Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.31265241_31265247delinsTGAAAAACA2255578943NF1c.539_545delinsTGAAAAA (n.539_545delinsTGAAAAA)
c.4719_4725delinsTGAAAAA (p.His1573=)
n.843_849delinsTGAAAAA
c.728_734delinsTGAAAAA
n.1382_1388delinsTGAAAAA
c.4767_4773delinsTGAAAAA (p.His1589=)
c.4737_4743delinsTGAAAAA (p.His1579=)
c.4674_4680delinsTGAAAAA (p.His1558=)
c.3672_3678delinsTGAAAAA (p.His1224=)
n.3210_3216delinsTGAAAAA
c.4776_4782delinsTGAAAAA (p.His1592=)
c.4728_4734delinsTGAAAAA (p.His1576=)
c.4704_4710delinsTGAAAAA (p.His1568=)
c.4764_4770delinsTGAAAAA (p.His1588=)
17g.31265241_31265249delinsTGAAAAAGACA2255578945NF1c.539_547delinsTGAAAAAGA (n.539_547delinsTGAAAAAGA)
c.4719_4727delinsTGAAAAAGA (p.His1573=)
n.843_851delinsTGAAAAAGA
c.728_736delinsTGAAAAAGA
n.1382_1390delinsTGAAAAAGA
c.4767_4775delinsTGAAAAAGA (p.His1589=)
c.4737_4745delinsTGAAAAAGA (p.His1579=)
c.4674_4682delinsTGAAAAAGA (p.His1558=)
c.3672_3680delinsTGAAAAAGA (p.His1224=)
n.3210_3218delinsTGAAAAAGA
c.4776_4784delinsTGAAAAAGA (p.His1592=)
c.4728_4736delinsTGAAAAAGA (p.His1576=)
c.4704_4712delinsTGAAAAAGA (p.His1568=)
c.4764_4772delinsTGAAAAAGA (p.His1588=)
17g.31265242G>ACA399001172NF1c.540G>A (n.540G>A)
c.4720G>A (p.Glu1574Lys)
n.844G>A
c.729G>A
n.1383G>A
c.4768G>A (p.Glu1590Lys)
c.4738G>A (p.Glu1580Lys)
c.4675G>A (p.Glu1559Lys)
c.3673G>A (p.Glu1225Lys)
n.3211G>A
c.4777G>A (p.Glu1593Lys)
c.4729G>A (p.Glu1577Lys)
c.4705G>A (p.Glu1569Lys)
c.4765G>A (p.Glu1589Lys)
 COSMIC COSMIC
17g.31265242G>CCA399001173NF1c.540G>C (n.540G>C)
c.4720G>C (p.Glu1574Gln)
n.844G>C
c.729G>C
n.1383G>C
c.4768G>C (p.Glu1590Gln)
c.4738G>C (p.Glu1580Gln)
c.4675G>C (p.Glu1559Gln)
c.3673G>C (p.Glu1225Gln)
n.3211G>C
c.4777G>C (p.Glu1593Gln)
c.4729G>C (p.Glu1577Gln)
c.4705G>C (p.Glu1569Gln)
c.4765G>C (p.Glu1589Gln)
17g.31265242G=CA2255578946NF1c.540G= (n.540G=)
c.4720G= (p.Glu1574=)
n.844G=
c.729G=
n.1383G=
c.4768G= (p.Glu1590=)
c.4738G= (p.Glu1580=)
c.4675G= (p.Glu1559=)
c.3673G= (p.Glu1225=)
n.3211G=
c.4777G= (p.Glu1593=)
c.4729G= (p.Glu1577=)
c.4705G= (p.Glu1569=)
c.4765G= (p.Glu1589=)
17g.31265242G>TCA399001174NF1c.540G>T (n.540G>T)
c.4720G>T (p.Glu1574Ter)
n.844G>T
c.729G>T
n.1383G>T
c.4768G>T (p.Glu1590Ter)
c.4738G>T (p.Glu1580Ter)
c.4675G>T (p.Glu1559Ter)
c.3673G>T (p.Glu1225Ter)
n.3211G>T
c.4777G>T (p.Glu1593Ter)
c.4729G>T (p.Glu1577Ter)
c.4705G>T (p.Glu1569Ter)
c.4765G>T (p.Glu1589Ter)
 ClinVar dbSNP
17g.31265242_31265249delinsAAAAAGGCA915949669NF1c.540_547delinsAAAAAGG (n.540_547delinsAAAAAGG)
c.4720_4727delinsAAAAAGG (p.Glu1574LysfsTer8)
n.844_851delinsAAAAAGG
c.729_736delinsAAAAAGG
n.1383_1390delinsAAAAAGG
c.4768_4775delinsAAAAAGG (p.Glu1590LysfsTer8)
c.4738_4745delinsAAAAAGG (p.Glu1580LysfsTer8)
c.4675_4682delinsAAAAAGG (p.Glu1559LysfsTer8)
c.3673_3680delinsAAAAAGG (p.Glu1225LysfsTer8)
n.3211_3218delinsAAAAAGG
c.4777_4784delinsAAAAAGG (p.Glu1593LysfsTer8)
c.4729_4736delinsAAAAAGG (p.Glu1577LysfsTer8)
c.4705_4712delinsAAAAAGG (p.Glu1569LysfsTer8)
c.4765_4772delinsAAAAAGG (p.Glu1589LysfsTer8)
 ClinVar dbSNP
17g.31265245_31265250delCA8486471NF1c.543_548del (n.543_548del)
c.4723_4728del (p.Lys1575_Glu1576del)
n.847_852del
c.732_737del
n.1386_1391del
c.4771_4776del (p.Lys1591_Glu1592del)
c.4741_4746del (p.Lys1581_Glu1582del)
c.4678_4683del (p.Lys1560_Glu1561del)
c.3676_3681del (p.Lys1226_Glu1227del)
n.3214_3219del
c.4780_4785del (p.Lys1594_Glu1595del)
c.4732_4737del (p.Lys1578_Glu1579del)
c.4708_4713del (p.Lys1570_Glu1571del)
c.4768_4773del (p.Lys1590_Glu1591del)
 dbSNP ExAC gnomAD v2
17g.31265243A>CCA399001175NF1c.541A>C (n.541A>C)
c.4721A>C (p.Glu1574Ala)
n.845A>C
c.730A>C
n.1384A>C
c.4769A>C (p.Glu1590Ala)
c.4739A>C (p.Glu1580Ala)
c.4676A>C (p.Glu1559Ala)
c.3674A>C (p.Glu1225Ala)
n.3212A>C
c.4778A>C (p.Glu1593Ala)
c.4730A>C (p.Glu1577Ala)
c.4706A>C (p.Glu1569Ala)
c.4766A>C (p.Glu1589Ala)
17g.31265243A>GCA399001176NF1c.541A>G (n.541A>G)
c.4721A>G (p.Glu1574Gly)
n.845A>G
c.730A>G
n.1384A>G
c.4769A>G (p.Glu1590Gly)
c.4739A>G (p.Glu1580Gly)
c.4676A>G (p.Glu1559Gly)
c.3674A>G (p.Glu1225Gly)
n.3212A>G
c.4778A>G (p.Glu1593Gly)
c.4730A>G (p.Glu1577Gly)
c.4706A>G (p.Glu1569Gly)
c.4766A>G (p.Glu1589Gly)
 dbSNP
17g.31265243A>TCA399001177NF1c.541A>T (n.541A>T)
c.4721A>T (p.Glu1574Val)
n.845A>T
c.730A>T
n.1384A>T
c.4769A>T (p.Glu1590Val)
c.4739A>T (p.Glu1580Val)
c.4676A>T (p.Glu1559Val)
c.3674A>T (p.Glu1225Val)
n.3212A>T
c.4778A>T (p.Glu1593Val)
c.4730A>T (p.Glu1577Val)
c.4706A>T (p.Glu1569Val)
c.4766A>T (p.Glu1589Val)
17g.31265247dupCA891843830NF1c.545dup (n.545dup)
c.4725dup (p.Glu1576ArgfsTer?)
n.849dup
c.734dup
n.1388dup
c.4773dup (p.Glu1592ArgfsTer?)
c.4743dup (p.Glu1582ArgfsTer?)
c.4680dup (p.Glu1561ArgfsTer?)
c.3678dup (p.Glu1227ArgfsTer?)
n.3216dup
c.4782dup (p.Glu1595ArgfsTer?)
c.4734dup (p.Glu1579ArgfsTer?)
c.4710dup (p.Glu1571ArgfsTer?)
c.4770dup (p.Glu1591ArgfsTer?)
 ClinVar dbSNP
17g.31265247delCA2697559539NF1c.545del (n.545del)
c.4725del (p.Glu1576LysfsTer6)
n.849del
c.734del
n.1388del
c.4773del (p.Glu1592LysfsTer6)
c.4743del (p.Glu1582LysfsTer6)
c.4680del (p.Glu1561LysfsTer6)
c.3678del (p.Glu1227LysfsTer6)
n.3216del
c.4782del (p.Glu1595LysfsTer6)
c.4734del (p.Glu1579LysfsTer6)
c.4710del (p.Glu1571LysfsTer6)
c.4770del (p.Glu1591LysfsTer6)
 ClinVar
17g.31265244A>CCA399001179NF1c.542A>C (n.542A>C)
c.4722A>C (p.Glu1574Asp)
n.846A>C
c.731A>C
n.1385A>C
c.4770A>C (p.Glu1590Asp)
c.4740A>C (p.Glu1580Asp)
c.4677A>C (p.Glu1559Asp)
c.3675A>C (p.Glu1225Asp)
n.3213A>C
c.4779A>C (p.Glu1593Asp)
c.4731A>C (p.Glu1577Asp)
c.4707A>C (p.Glu1569Asp)
c.4767A>C (p.Glu1589Asp)
17g.31265244A>GCA499234098NF1c.542A>G (n.542A>G)
c.4722A>G (p.Glu1574=)
n.846A>G
c.731A>G
n.1385A>G
c.4770A>G (p.Glu1590=)
c.4740A>G (p.Glu1580=)
c.4677A>G (p.Glu1559=)
c.3675A>G (p.Glu1225=)
n.3213A>G
c.4779A>G (p.Glu1593=)
c.4731A>G (p.Glu1577=)
c.4707A>G (p.Glu1569=)
c.4767A>G (p.Glu1589=)
17g.31265244A>TCA399001178NF1c.542A>T (n.542A>T)
c.4722A>T (p.Glu1574Asp)
n.846A>T
c.731A>T
n.1385A>T
c.4770A>T (p.Glu1590Asp)
c.4740A>T (p.Glu1580Asp)
c.4677A>T (p.Glu1559Asp)
c.3675A>T (p.Glu1225Asp)
n.3213A>T
c.4779A>T (p.Glu1593Asp)
c.4731A>T (p.Glu1577Asp)
c.4707A>T (p.Glu1569Asp)
c.4767A>T (p.Glu1589Asp)
 ClinVar
17g.31265245A>CCA399001180NF1c.543A>C (n.543A>C)
c.4723A>C (p.Lys1575Gln)
n.847A>C
c.732A>C
n.1386A>C
c.4771A>C (p.Lys1591Gln)
c.4741A>C (p.Lys1581Gln)
c.4678A>C (p.Lys1560Gln)
c.3676A>C (p.Lys1226Gln)
n.3214A>C
c.4780A>C (p.Lys1594Gln)
c.4732A>C (p.Lys1578Gln)
c.4708A>C (p.Lys1570Gln)
c.4768A>C (p.Lys1590Gln)
17g.31265245A>GCA399001181NF1c.543A>G (n.543A>G)
c.4723A>G (p.Lys1575Glu)
n.847A>G
c.732A>G
n.1386A>G
c.4771A>G (p.Lys1591Glu)
c.4741A>G (p.Lys1581Glu)
c.4678A>G (p.Lys1560Glu)
c.3676A>G (p.Lys1226Glu)
n.3214A>G
c.4780A>G (p.Lys1594Glu)
c.4732A>G (p.Lys1578Glu)
c.4708A>G (p.Lys1570Glu)
c.4768A>G (p.Lys1590Glu)
17g.31265245A>TCA399001182NF1c.543A>T (n.543A>T)
c.4723A>T (p.Lys1575Ter)
n.847A>T
c.732A>T
n.1386A>T
c.4771A>T (p.Lys1591Ter)
c.4741A>T (p.Lys1581Ter)
c.4678A>T (p.Lys1560Ter)
c.3676A>T (p.Lys1226Ter)
n.3214A>T
c.4780A>T (p.Lys1594Ter)
c.4732A>T (p.Lys1578Ter)
c.4708A>T (p.Lys1570Ter)
c.4768A>T (p.Lys1590Ter)
17g.31265247_31265250delCA2695225417NF1c.545_548del (n.545_548del)
c.4725_4728del (p.Glu1576AsnfsTer5)
n.849_852del
c.734_737del
n.1388_1391del
c.4773_4776del (p.Glu1592AsnfsTer5)
c.4743_4746del (p.Glu1582AsnfsTer5)
c.4680_4683del (p.Glu1561AsnfsTer5)
c.3678_3681del (p.Glu1227AsnfsTer5)
n.3216_3219del
c.4782_4785del (p.Glu1595AsnfsTer5)
c.4734_4737del (p.Glu1579AsnfsTer5)
c.4710_4713del (p.Glu1571AsnfsTer5)
c.4770_4773del (p.Glu1591AsnfsTer5)
17g.31265246A>CCA399001183NF1c.544A>C (n.544A>C)
c.4724A>C (p.Lys1575Thr)
n.848A>C
c.733A>C
n.1387A>C
c.4772A>C (p.Lys1591Thr)
c.4742A>C (p.Lys1581Thr)
c.4679A>C (p.Lys1560Thr)
c.3677A>C (p.Lys1226Thr)
n.3215A>C
c.4781A>C (p.Lys1594Thr)
c.4733A>C (p.Lys1578Thr)
c.4709A>C (p.Lys1570Thr)
c.4769A>C (p.Lys1590Thr)
17g.31265246A>GCA399001184NF1c.544A>G (n.544A>G)
c.4724A>G (p.Lys1575Arg)
n.848A>G
c.733A>G
n.1387A>G
c.4772A>G (p.Lys1591Arg)
c.4742A>G (p.Lys1581Arg)
c.4679A>G (p.Lys1560Arg)
c.3677A>G (p.Lys1226Arg)
n.3215A>G
c.4781A>G (p.Lys1594Arg)
c.4733A>G (p.Lys1578Arg)
c.4709A>G (p.Lys1570Arg)
c.4769A>G (p.Lys1590Arg)
17g.31265246A>TCA399001185NF1c.544A>T (n.544A>T)
c.4724A>T (p.Lys1575Ile)
n.848A>T
c.733A>T
n.1387A>T
c.4772A>T (p.Lys1591Ile)
c.4742A>T (p.Lys1581Ile)
c.4679A>T (p.Lys1560Ile)
c.3677A>T (p.Lys1226Ile)
n.3215A>T
c.4781A>T (p.Lys1594Ile)
c.4733A>T (p.Lys1578Ile)
c.4709A>T (p.Lys1570Ile)
c.4769A>T (p.Lys1590Ile)
17g.31265246_31265248delinsAAGCA2255578947NF1c.544_546delinsAAG (n.544_546delinsAAG)
c.4724_4726delinsAAG (p.Lys1575=)
n.848_850delinsAAG
c.733_735delinsAAG
n.1387_1389delinsAAG
c.4772_4774delinsAAG (p.Lys1591=)
c.4742_4744delinsAAG (p.Lys1581=)
c.4679_4681delinsAAG (p.Lys1560=)
c.3677_3679delinsAAG (p.Lys1226=)
n.3215_3217delinsAAG
c.4781_4783delinsAAG (p.Lys1594=)
c.4733_4735delinsAAG (p.Lys1578=)
c.4709_4711delinsAAG (p.Lys1570=)
c.4769_4771delinsAAG (p.Lys1590=)
17g.31265247A>CCA399001186NF1c.545A>C (n.545A>C)
c.4725A>C (p.Lys1575Asn)
n.849A>C
c.734A>C
n.1388A>C
c.4773A>C (p.Lys1591Asn)
c.4743A>C (p.Lys1581Asn)
c.4680A>C (p.Lys1560Asn)
c.3678A>C (p.Lys1226Asn)
n.3216A>C
c.4782A>C (p.Lys1594Asn)
c.4734A>C (p.Lys1578Asn)
c.4710A>C (p.Lys1570Asn)
c.4770A>C (p.Lys1590Asn)
17g.31265247A>GCA499234100NF1c.545A>G (n.545A>G)
c.4725A>G (p.Lys1575=)
n.849A>G
c.734A>G
n.1388A>G
c.4773A>G (p.Lys1591=)
c.4743A>G (p.Lys1581=)
c.4680A>G (p.Lys1560=)
c.3678A>G (p.Lys1226=)
n.3216A>G
c.4782A>G (p.Lys1594=)
c.4734A>G (p.Lys1578=)
c.4710A>G (p.Lys1570=)
c.4770A>G (p.Lys1590=)
17g.31265247A>TCA399001187NF1c.545A>T (n.545A>T)
c.4725A>T (p.Lys1575Asn)
n.849A>T
c.734A>T
n.1388A>T
c.4773A>T (p.Lys1591Asn)
c.4743A>T (p.Lys1581Asn)
c.4680A>T (p.Lys1560Asn)
c.3678A>T (p.Lys1226Asn)
n.3216A>T
c.4782A>T (p.Lys1594Asn)
c.4734A>T (p.Lys1578Asn)
c.4710A>T (p.Lys1570Asn)
c.4770A>T (p.Lys1590Asn)
17g.31265248_31265249delCA658824768NF1c.546_547del (n.546_547del)
c.4726_4727del (p.Glu1576ArgfsTer?)
n.850_851del
c.735_736del
n.1389_1390del
c.4774_4775del (p.Glu1592ArgfsTer?)
c.4744_4745del (p.Glu1582ArgfsTer?)
c.4681_4682del (p.Glu1561ArgfsTer?)
c.3679_3680del (p.Glu1227ArgfsTer?)
n.3217_3218del
c.4783_4784del (p.Glu1595ArgfsTer?)
c.4735_4736del (p.Glu1579ArgfsTer?)
c.4711_4712del (p.Glu1571ArgfsTer?)
c.4771_4772del (p.Glu1591ArgfsTer?)
 ClinVar dbSNP
17g.31265248G>ACA399001188NF1c.546G>A (n.546G>A)
c.4726G>A (p.Glu1576Lys)
n.850G>A
c.735G>A
n.1389G>A
c.4774G>A (p.Glu1592Lys)
c.4744G>A (p.Glu1582Lys)
c.4681G>A (p.Glu1561Lys)
c.3679G>A (p.Glu1227Lys)
n.3217G>A
c.4783G>A (p.Glu1595Lys)
c.4735G>A (p.Glu1579Lys)
c.4711G>A (p.Glu1571Lys)
c.4771G>A (p.Glu1591Lys)
 dbSNP
17g.31265248G>CCA399001189NF1c.546G>C (n.546G>C)
c.4726G>C (p.Glu1576Gln)
n.850G>C
c.735G>C
n.1389G>C
c.4774G>C (p.Glu1592Gln)
c.4744G>C (p.Glu1582Gln)
c.4681G>C (p.Glu1561Gln)
c.3679G>C (p.Glu1227Gln)
n.3217G>C
c.4783G>C (p.Glu1595Gln)
c.4735G>C (p.Glu1579Gln)
c.4711G>C (p.Glu1571Gln)
c.4771G>C (p.Glu1591Gln)
 dbSNP gnomAD v2 gnomAD v4
17g.31265248G=CA2255578948NF1c.546G= (n.546G=)
c.4726G= (p.Glu1576=)
n.850G=
c.735G=
n.1389G=
c.4774G= (p.Glu1592=)
c.4744G= (p.Glu1582=)
c.4681G= (p.Glu1561=)
c.3679G= (p.Glu1227=)
n.3217G=
c.4783G= (p.Glu1595=)
c.4735G= (p.Glu1579=)
c.4711G= (p.Glu1571=)
c.4771G= (p.Glu1591=)
17g.31265248G>TCA399001190NF1c.546G>T (n.546G>T)
c.4726G>T (p.Glu1576Ter)
n.850G>T
c.735G>T
n.1389G>T
c.4774G>T (p.Glu1592Ter)
c.4744G>T (p.Glu1582Ter)
c.4681G>T (p.Glu1561Ter)
c.3679G>T (p.Glu1227Ter)
n.3217G>T
c.4783G>T (p.Glu1595Ter)
c.4735G>T (p.Glu1579Ter)
c.4711G>T (p.Glu1571Ter)
c.4771G>T (p.Glu1591Ter)
 ClinVar dbSNP
17g.31265249A=CA2255578949NF1c.547A= (n.547A=)
c.4727A= (p.Glu1576=)
n.851A=
c.736A=
n.1390A=
c.4775A= (p.Glu1592=)
c.4745A= (p.Glu1582=)
c.4682A= (p.Glu1561=)
c.3680A= (p.Glu1227=)
n.3218A=
c.4784A= (p.Glu1595=)
c.4736A= (p.Glu1579=)
c.4712A= (p.Glu1571=)
c.4772A= (p.Glu1591=)
17g.31265249A>CCA399001191NF1c.547A>C (n.547A>C)
c.4727A>C (p.Glu1576Ala)
n.851A>C
c.736A>C
n.1390A>C
c.4775A>C (p.Glu1592Ala)
c.4745A>C (p.Glu1582Ala)
c.4682A>C (p.Glu1561Ala)
c.3680A>C (p.Glu1227Ala)
n.3218A>C
c.4784A>C (p.Glu1595Ala)
c.4736A>C (p.Glu1579Ala)
c.4712A>C (p.Glu1571Ala)
c.4772A>C (p.Glu1591Ala)
17g.31265249A>GCA399001192NF1c.547A>G (n.547A>G)
c.4727A>G (p.Glu1576Gly)
n.851A>G
c.736A>G
n.1390A>G
c.4775A>G (p.Glu1592Gly)
c.4745A>G (p.Glu1582Gly)
c.4682A>G (p.Glu1561Gly)
c.3680A>G (p.Glu1227Gly)
n.3218A>G
c.4784A>G (p.Glu1595Gly)
c.4736A>G (p.Glu1579Gly)
c.4712A>G (p.Glu1571Gly)
c.4772A>G (p.Glu1591Gly)
17g.31265249A>TCA399001193NF1c.547A>T (n.547A>T)
c.4727A>T (p.Glu1576Val)
n.851A>T
c.736A>T
n.1390A>T
c.4775A>T (p.Glu1592Val)
c.4745A>T (p.Glu1582Val)
c.4682A>T (p.Glu1561Val)
c.3680A>T (p.Glu1227Val)
n.3218A>T
c.4784A>T (p.Glu1595Val)
c.4736A>T (p.Glu1579Val)
c.4712A>T (p.Glu1571Val)
c.4772A>T (p.Glu1591Val)
 dbSNP
17g.31265250A>CCA399001194NF1c.548A>C (n.548A>C)
c.4728A>C (p.Glu1576Asp)
n.852A>C
c.737A>C
n.1391A>C
c.4776A>C (p.Glu1592Asp)
c.4746A>C (p.Glu1582Asp)
c.4683A>C (p.Glu1561Asp)
c.3681A>C (p.Glu1227Asp)
n.3219A>C
c.4785A>C (p.Glu1595Asp)
c.4737A>C (p.Glu1579Asp)
c.4713A>C (p.Glu1571Asp)
c.4773A>C (p.Glu1591Asp)
17g.31265250A>GCA499234107NF1c.548A>G (n.548A>G)
c.4728A>G (p.Glu1576=)
n.852A>G
c.737A>G
n.1391A>G
c.4776A>G (p.Glu1592=)
c.4746A>G (p.Glu1582=)
c.4683A>G (p.Glu1561=)
c.3681A>G (p.Glu1227=)
n.3219A>G
c.4785A>G (p.Glu1595=)
c.4737A>G (p.Glu1579=)
c.4713A>G (p.Glu1571=)
c.4773A>G (p.Glu1591=)
17g.31265250A>TCA399001195NF1c.548A>T (n.548A>T)
c.4728A>T (p.Glu1576Asp)
n.852A>T
c.737A>T
n.1391A>T
c.4776A>T (p.Glu1592Asp)
c.4746A>T (p.Glu1582Asp)
c.4683A>T (p.Glu1561Asp)
c.3681A>T (p.Glu1227Asp)
n.3219A>T
c.4785A>T (p.Glu1595Asp)
c.4737A>T (p.Glu1579Asp)
c.4713A>T (p.Glu1571Asp)
c.4773A>T (p.Glu1591Asp)
 dbSNP
17g.31265251_31265252dupCA16615252NF1c.549_550dup (n.549_550dup)
c.4729_4730dup (p.Phe1578AsnfsTer5)
n.853_854dup
c.738_739dup
n.1392_1393dup
c.4777_4778dup (p.Phe1594AsnfsTer5)
c.4747_4748dup (p.Phe1584AsnfsTer5)
c.4684_4685dup (p.Phe1563AsnfsTer5)
c.3682_3683dup (p.Phe1229AsnfsTer5)
n.3220_3221dup
c.4786_4787dup (p.Phe1597AsnfsTer5)
c.4738_4739dup (p.Phe1581AsnfsTer5)
c.4714_4715dup (p.Phe1573AsnfsTer5)
c.4774_4775dup (p.Phe1593AsnfsTer5)
 ClinVar dbSNP
17g.31265251G>ACA399001196NF1c.549G>A (n.549G>A)
c.4729G>A (p.Glu1577Lys)
n.853G>A
c.738G>A
n.1392G>A
c.4777G>A (p.Glu1593Lys)
c.4747G>A (p.Glu1583Lys)
c.4684G>A (p.Glu1562Lys)
c.3682G>A (p.Glu1228Lys)
n.3220G>A
c.4786G>A (p.Glu1596Lys)
c.4738G>A (p.Glu1580Lys)
c.4714G>A (p.Glu1572Lys)
c.4774G>A (p.Glu1592Lys)
 dbSNP
17g.31265251G>CCA399001197NF1c.549G>C (n.549G>C)
c.4729G>C (p.Glu1577Gln)
n.853G>C
c.738G>C
n.1392G>C
c.4777G>C (p.Glu1593Gln)
c.4747G>C (p.Glu1583Gln)
c.4684G>C (p.Glu1562Gln)
c.3682G>C (p.Glu1228Gln)
n.3220G>C
c.4786G>C (p.Glu1596Gln)
c.4738G>C (p.Glu1580Gln)
c.4714G>C (p.Glu1572Gln)
c.4774G>C (p.Glu1592Gln)
 dbSNP
17g.31265251G=CA2255578951NF1c.549G= (n.549G=)
c.4729G= (p.Glu1577=)
n.853G=
c.738G=
n.1392G=
c.4777G= (p.Glu1593=)
c.4747G= (p.Glu1583=)
c.4684G= (p.Glu1562=)
c.3682G= (p.Glu1228=)
n.3220G=
c.4786G= (p.Glu1596=)
c.4738G= (p.Glu1580=)
c.4714G= (p.Glu1572=)
c.4774G= (p.Glu1592=)
17g.31265251G>TCA399001198NF1c.549G>T (n.549G>T)
c.4729G>T (p.Glu1577Ter)
n.853G>T
c.738G>T
n.1392G>T
c.4777G>T (p.Glu1593Ter)
c.4747G>T (p.Glu1583Ter)
c.4684G>T (p.Glu1562Ter)
c.3682G>T (p.Glu1228Ter)
n.3220G>T
c.4786G>T (p.Glu1596Ter)
c.4738G>T (p.Glu1580Ter)
c.4714G>T (p.Glu1572Ter)
c.4774G>T (p.Glu1592Ter)
 ClinVar dbSNP COSMIC COSMIC
17g.31265251_31265252delinsGACA2255578950NF1c.549_550delinsGA (n.549_550delinsGA)
c.4729_4730delinsGA (p.Glu1577=)
n.853_854delinsGA
c.738_739delinsGA
n.1392_1393delinsGA
c.4777_4778delinsGA (p.Glu1593=)
c.4747_4748delinsGA (p.Glu1583=)
c.4684_4685delinsGA (p.Glu1562=)
c.3682_3683delinsGA (p.Glu1228=)
n.3220_3221delinsGA
c.4786_4787delinsGA (p.Glu1596=)
c.4738_4739delinsGA (p.Glu1580=)
c.4714_4715delinsGA (p.Glu1572=)
c.4774_4775delinsGA (p.Glu1592=)
17g.31265252A>CCA399001199NF1c.550A>C (n.550A>C)
c.4730A>C (p.Glu1577Ala)
n.854A>C
c.739A>C
n.1393A>C
c.4778A>C (p.Glu1593Ala)
c.4748A>C (p.Glu1583Ala)
c.4685A>C (p.Glu1562Ala)
c.3683A>C (p.Glu1228Ala)
n.3221A>C
c.4787A>C (p.Glu1596Ala)
c.4739A>C (p.Glu1580Ala)
c.4715A>C (p.Glu1572Ala)
c.4775A>C (p.Glu1592Ala)
17g.31265252A>GCA399001200NF1c.550A>G (n.550A>G)
c.4730A>G (p.Glu1577Gly)
n.854A>G
c.739A>G
n.1393A>G
c.4778A>G (p.Glu1593Gly)
c.4748A>G (p.Glu1583Gly)
c.4685A>G (p.Glu1562Gly)
c.3683A>G (p.Glu1228Gly)
n.3221A>G
c.4787A>G (p.Glu1596Gly)
c.4739A>G (p.Glu1580Gly)
c.4715A>G (p.Glu1572Gly)
c.4775A>G (p.Glu1592Gly)
17g.31265252A>TCA399001201NF1c.550A>T (n.550A>T)
c.4730A>T (p.Glu1577Val)
n.854A>T
c.739A>T
n.1393A>T
c.4778A>T (p.Glu1593Val)
c.4748A>T (p.Glu1583Val)
c.4685A>T (p.Glu1562Val)
c.3683A>T (p.Glu1228Val)
n.3221A>T
c.4787A>T (p.Glu1596Val)
c.4739A>T (p.Glu1580Val)
c.4715A>T (p.Glu1572Val)
c.4775A>T (p.Glu1592Val)
17g.31265253delCA891843831NF1c.551del (n.551del)
c.4731del (p.Glu1577AspfsTer5)
n.855del
c.740del
n.1394del
c.4779del (p.Glu1593AspfsTer5)
c.4749del (p.Glu1583AspfsTer5)
c.4686del (p.Glu1562AspfsTer5)
c.3684del (p.Glu1228AspfsTer5)
n.3222del
c.4788del (p.Glu1596AspfsTer5)
c.4740del (p.Glu1580AspfsTer5)
c.4716del (p.Glu1572AspfsTer5)
c.4776del (p.Glu1592AspfsTer5)
 ClinVar dbSNP
17g.31265254_31265258delCA645582468NF1c.552_556del (n.552_556del)
c.4732_4736del (p.Phe1578GlyfsTer?)
n.856_860del
c.741_745del
n.1395_1399del
c.4780_4784del (p.Phe1594GlyfsTer?)
c.4750_4754del (p.Phe1584GlyfsTer?)
c.4687_4691del (p.Phe1563GlyfsTer?)
c.3685_3689del (p.Phe1229GlyfsTer?)
n.3223_3227del
c.4789_4793del (p.Phe1597GlyfsTer?)
c.4741_4745del (p.Phe1581GlyfsTer?)
c.4717_4721del (p.Phe1573GlyfsTer?)
c.4777_4781del (p.Phe1593GlyfsTer?)
 COSMIC
17g.31265253A=CA2255578952NF1c.551A= (n.551A=)
c.4731A= (p.Glu1577=)
n.855A=
c.740A=
n.1394A=
c.4779A= (p.Glu1593=)
c.4749A= (p.Glu1583=)
c.4686A= (p.Glu1562=)
c.3684A= (p.Glu1228=)
n.3222A=
c.4788A= (p.Glu1596=)
c.4740A= (p.Glu1580=)
c.4716A= (p.Glu1572=)
c.4776A= (p.Glu1592=)
17g.31265253A>CCA399001202NF1c.551A>C (n.551A>C)
c.4731A>C (p.Glu1577Asp)
n.855A>C
c.740A>C
n.1394A>C
c.4779A>C (p.Glu1593Asp)
c.4749A>C (p.Glu1583Asp)
c.4686A>C (p.Glu1562Asp)
c.3684A>C (p.Glu1228Asp)
n.3222A>C
c.4788A>C (p.Glu1596Asp)
c.4740A>C (p.Glu1580Asp)
c.4716A>C (p.Glu1572Asp)
c.4776A>C (p.Glu1592Asp)
17g.31265253A>GCA189401NF1c.551A>G (n.551A>G)
c.4731A>G (p.Glu1577=)
n.855A>G
c.740A>G
n.1394A>G
c.4779A>G (p.Glu1593=)
c.4749A>G (p.Glu1583=)
c.4686A>G (p.Glu1562=)
c.3684A>G (p.Glu1228=)
n.3222A>G
c.4788A>G (p.Glu1596=)
c.4740A>G (p.Glu1580=)
c.4716A>G (p.Glu1572=)
c.4776A>G (p.Glu1592=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
17g.31265253A>TCA399001203NF1c.551A>T (n.551A>T)
c.4731A>T (p.Glu1577Asp)
n.855A>T
c.740A>T
n.1394A>T
c.4779A>T (p.Glu1593Asp)
c.4749A>T (p.Glu1583Asp)
c.4686A>T (p.Glu1562Asp)
c.3684A>T (p.Glu1228Asp)
n.3222A>T
c.4788A>T (p.Glu1596Asp)
c.4740A>T (p.Glu1580Asp)
c.4716A>T (p.Glu1572Asp)
c.4776A>T (p.Glu1592Asp)
 ClinVar dbSNP
17g.31265254T>ACA399001204NF1c.552T>A (n.552T>A)
c.4732T>A (p.Phe1578Ile)
n.856T>A
c.741T>A
n.1395T>A
c.4780T>A (p.Phe1594Ile)
c.4750T>A (p.Phe1584Ile)
c.4687T>A (p.Phe1563Ile)
c.3685T>A (p.Phe1229Ile)
n.3223T>A
c.4789T>A (p.Phe1597Ile)
c.4741T>A (p.Phe1581Ile)
c.4717T>A (p.Phe1573Ile)
c.4777T>A (p.Phe1593Ile)
 COSMIC COSMIC
17g.31265254T>CCA399001205NF1c.552T>C (n.552T>C)
c.4732T>C (p.Phe1578Leu)
n.856T>C
c.741T>C
n.1395T>C
c.4780T>C (p.Phe1594Leu)
c.4750T>C (p.Phe1584Leu)
c.4687T>C (p.Phe1563Leu)
c.3685T>C (p.Phe1229Leu)
n.3223T>C
c.4789T>C (p.Phe1597Leu)
c.4741T>C (p.Phe1581Leu)
c.4717T>C (p.Phe1573Leu)
c.4777T>C (p.Phe1593Leu)
17g.31265254T>GCA399001206NF1c.552T>G (n.552T>G)
c.4732T>G (p.Phe1578Val)
n.856T>G
c.741T>G
n.1395T>G
c.4780T>G (p.Phe1594Val)
c.4750T>G (p.Phe1584Val)
c.4687T>G (p.Phe1563Val)
c.3685T>G (p.Phe1229Val)
n.3223T>G
c.4789T>G (p.Phe1597Val)
c.4741T>G (p.Phe1581Val)
c.4717T>G (p.Phe1573Val)
c.4777T>G (p.Phe1593Val)
17g.31265255delCA2573153669NF1c.553del (n.553del)
c.4733del (p.Phe1578SerfsTer4)
n.857del
c.742del
n.1396del
c.4781del (p.Phe1594SerfsTer4)
c.4751del (p.Phe1584SerfsTer4)
c.4688del (p.Phe1563SerfsTer4)
c.3686del (p.Phe1229SerfsTer4)
n.3224del
c.4790del (p.Phe1597SerfsTer4)
c.4742del (p.Phe1581SerfsTer4)
c.4718del (p.Phe1573SerfsTer4)
c.4778del (p.Phe1593SerfsTer4)
 ClinVar dbSNP
17g.31265255T>ACA399001209NF1c.553T>A (n.553T>A)
c.4733T>A (p.Phe1578Tyr)
n.857T>A
c.742T>A
n.1396T>A
c.4781T>A (p.Phe1594Tyr)
c.4751T>A (p.Phe1584Tyr)
c.4688T>A (p.Phe1563Tyr)
c.3686T>A (p.Phe1229Tyr)
n.3224T>A
c.4790T>A (p.Phe1597Tyr)
c.4742T>A (p.Phe1581Tyr)
c.4718T>A (p.Phe1573Tyr)
c.4778T>A (p.Phe1593Tyr)
17g.31265255T>CCA399001208NF1c.553T>C (n.553T>C)
c.4733T>C (p.Phe1578Ser)
n.857T>C
c.742T>C
n.1396T>C
c.4781T>C (p.Phe1594Ser)
c.4751T>C (p.Phe1584Ser)
c.4688T>C (p.Phe1563Ser)
c.3686T>C (p.Phe1229Ser)
n.3224T>C
c.4790T>C (p.Phe1597Ser)
c.4742T>C (p.Phe1581Ser)
c.4718T>C (p.Phe1573Ser)
c.4778T>C (p.Phe1593Ser)
17g.31265255T>GCA399001207NF1c.553T>G (n.553T>G)
c.4733T>G (p.Phe1578Cys)
n.857T>G
c.742T>G
n.1396T>G
c.4781T>G (p.Phe1594Cys)
c.4751T>G (p.Phe1584Cys)
c.4688T>G (p.Phe1563Cys)
c.3686T>G (p.Phe1229Cys)
n.3224T>G
c.4790T>G (p.Phe1597Cys)
c.4742T>G (p.Phe1581Cys)
c.4718T>G (p.Phe1573Cys)
c.4778T>G (p.Phe1593Cys)
17g.31265255_31265257delCA2573153670NF1c.553_555del (n.553_555del)
c.4733_4735del (p.Phe1578Ter)
n.857_859del
c.742_744del
n.1396_1398del
c.4781_4783del (p.Phe1594Ter)
c.4751_4753del (p.Phe1584Ter)
c.4688_4690del (p.Phe1563Ter)
c.3686_3688del (p.Phe1229Ter)
n.3224_3226del
c.4790_4792del (p.Phe1597Ter)
c.4742_4744del (p.Phe1581Ter)
c.4718_4720del (p.Phe1573Ter)
c.4778_4780del (p.Phe1593Ter)
 ClinVar dbSNP
17g.31265255_31265256insAACA2695225418NF1c.553_554insAA (n.553_554insAA)
c.4733_4734insAA (p.Phe1578LeufsTer5)
n.857_858insAA
c.742_743insAA
n.1396_1397insAA
c.4781_4782insAA (p.Phe1594LeufsTer5)
c.4751_4752insAA (p.Phe1584LeufsTer5)
c.4688_4689insAA (p.Phe1563LeufsTer5)
c.3686_3687insAA (p.Phe1229LeufsTer5)
n.3224_3225insAA
c.4790_4791insAA (p.Phe1597LeufsTer5)
c.4742_4743insAA (p.Phe1581LeufsTer5)
c.4718_4719insAA (p.Phe1573LeufsTer5)
c.4778_4779insAA (p.Phe1593LeufsTer5)
17g.31265256C>ACA399001210NF1c.554C>A (n.554C>A)
c.4734C>A (p.Phe1578Leu)
n.858C>A
c.743C>A
n.1397C>A
c.4782C>A (p.Phe1594Leu)
c.4752C>A (p.Phe1584Leu)
c.4689C>A (p.Phe1563Leu)
c.3687C>A (p.Phe1229Leu)
n.3225C>A
c.4791C>A (p.Phe1597Leu)
c.4743C>A (p.Phe1581Leu)
c.4719C>A (p.Phe1573Leu)
c.4779C>A (p.Phe1593Leu)
 dbSNP
17g.31265256C=CA2255578953NF1c.554C= (n.554C=)
c.4734C= (p.Phe1578=)
n.858C=
c.743C=
n.1397C=
c.4782C= (p.Phe1594=)
c.4752C= (p.Phe1584=)
c.4689C= (p.Phe1563=)
c.3687C= (p.Phe1229=)
n.3225C=
c.4791C= (p.Phe1597=)
c.4743C= (p.Phe1581=)
c.4719C= (p.Phe1573=)
c.4779C= (p.Phe1593=)
17g.31265256C>GCA399001211NF1c.554C>G (n.554C>G)
c.4734C>G (p.Phe1578Leu)
n.858C>G
c.743C>G
n.1397C>G
c.4782C>G (p.Phe1594Leu)
c.4752C>G (p.Phe1584Leu)
c.4689C>G (p.Phe1563Leu)
c.3687C>G (p.Phe1229Leu)
n.3225C>G
c.4791C>G (p.Phe1597Leu)
c.4743C>G (p.Phe1581Leu)
c.4719C>G (p.Phe1573Leu)
c.4779C>G (p.Phe1593Leu)
 dbSNP
17g.31265256C>TCA10577033NF1c.554C>T (n.554C>T)
c.4734C>T (p.Phe1578=)
n.858C>T
c.743C>T
n.1397C>T
c.4782C>T (p.Phe1594=)
c.4752C>T (p.Phe1584=)
c.4689C>T (p.Phe1563=)
c.3687C>T (p.Phe1229=)
n.3225C>T
c.4791C>T (p.Phe1597=)
c.4743C>T (p.Phe1581=)
c.4719C>T (p.Phe1573=)
c.4779C>T (p.Phe1593=)
 ClinVar dbSNP gnomAD v4
17g.31265256_31265273delinsCAAGGCTTTGAAAACGTTCA2255578954NF1c.554_571delinsCAAGGCTTTGAAAACGTT (n.554_571delinsCAAGGCTTTGAAAACGTT)
c.4734_4751delinsCAAGGCTTTGAAAACGTT (p.Phe1578=)
n.858_875delinsCAAGGCTTTGAAAACGTT
c.743_760delinsCAAGGCTTTGAAAACGTT
n.1397_1414delinsCAAGGCTTTGAAAACGTT
c.4782_4799delinsCAAGGCTTTGAAAACGTT (p.Phe1594=)
c.4752_4769delinsCAAGGCTTTGAAAACGTT (p.Phe1584=)
c.4689_4706delinsCAAGGCTTTGAAAACGTT (p.Phe1563=)
c.3687_3704delinsCAAGGCTTTGAAAACGTT (p.Phe1229=)
n.3225_3242delinsCAAGGCTTTGAAAACGTT
c.4791_4808delinsCAAGGCTTTGAAAACGTT (p.Phe1597=)
c.4743_4760delinsCAAGGCTTTGAAAACGTT (p.Phe1581=)
c.4719_4736delinsCAAGGCTTTGAAAACGTT (p.Phe1573=)
c.4779_4796delinsCAAGGCTTTGAAAACGTT (p.Phe1593=)
17g.31265257A=CA2255578955NF1c.555A= (n.555A=)
c.4735A= (p.Lys1579=)
n.859A=
c.744A=
n.1398A=
c.4783A= (p.Lys1595=)
c.4753A= (p.Lys1585=)
c.4690A= (p.Lys1564=)
c.3688A= (p.Lys1230=)
n.3226A=
c.4792A= (p.Lys1598=)
c.4744A= (p.Lys1582=)
c.4720A= (p.Lys1574=)
c.4780A= (p.Lys1594=)
17g.31265257A>CCA399001212NF1c.555A>C (n.555A>C)
c.4735A>C (p.Lys1579Gln)
n.859A>C
c.744A>C
n.1398A>C
c.4783A>C (p.Lys1595Gln)
c.4753A>C (p.Lys1585Gln)
c.4690A>C (p.Lys1564Gln)
c.3688A>C (p.Lys1230Gln)
n.3226A>C
c.4792A>C (p.Lys1598Gln)
c.4744A>C (p.Lys1582Gln)
c.4720A>C (p.Lys1574Gln)
c.4780A>C (p.Lys1594Gln)
17g.31265257A>GCA399001214NF1c.555A>G (n.555A>G)
c.4735A>G (p.Lys1579Glu)
n.859A>G
c.744A>G
n.1398A>G
c.4783A>G (p.Lys1595Glu)
c.4753A>G (p.Lys1585Glu)
c.4690A>G (p.Lys1564Glu)
c.3688A>G (p.Lys1230Glu)
n.3226A>G
c.4792A>G (p.Lys1598Glu)
c.4744A>G (p.Lys1582Glu)
c.4720A>G (p.Lys1574Glu)
c.4780A>G (p.Lys1594Glu)
17g.31265257A>TCA399001213NF1c.555A>T (n.555A>T)
c.4735A>T (p.Lys1579Ter)
n.859A>T
c.744A>T
n.1398A>T
c.4783A>T (p.Lys1595Ter)
c.4753A>T (p.Lys1585Ter)
c.4690A>T (p.Lys1564Ter)
c.3688A>T (p.Lys1230Ter)
n.3226A>T
c.4792A>T (p.Lys1598Ter)
c.4744A>T (p.Lys1582Ter)
c.4720A>T (p.Lys1574Ter)
c.4780A>T (p.Lys1594Ter)
 ClinVar dbSNP
17g.31265258delCA2695225419NF1c.556del (n.556del)
c.4736del (p.Lys1579ArgfsTer3)
n.860del
c.745del
n.1399del
c.4784del (p.Lys1595ArgfsTer3)
c.4754del (p.Lys1585ArgfsTer3)
c.4691del (p.Lys1564ArgfsTer3)
c.3689del (p.Lys1230ArgfsTer3)
n.3227del
c.4793del (p.Lys1598ArgfsTer3)
c.4745del (p.Lys1582ArgfsTer3)
c.4721del (p.Lys1574ArgfsTer3)
c.4781del (p.Lys1594ArgfsTer3)
17g.31265260_31265276delCA915949670NF1c.558_574del (n.558_574del)
c.4738_4754del (p.Ala1580TyrfsTer30)
n.862_878del
c.747_763del
n.1401_1417del
c.4786_4802del (p.Ala1596TyrfsTer30)
c.4756_4772del (p.Ala1586TyrfsTer30)
c.4693_4709del (p.Ala1565TyrfsTer30)
c.3691_3707del (p.Ala1231TyrfsTer30)
n.3229_3245del
c.4795_4811del (p.Ala1599TyrfsTer?)
c.4747_4763del (p.Ala1583TyrfsTer30)
c.4723_4739del (p.Ala1575TyrfsTer30)
c.4786_4802del (p.Ala1596TyrfsTer?)
c.4783_4799del (p.Ala1595TyrfsTer30)
 ClinVar dbSNP
17g.31265258A>CCA399001215NF1c.556A>C (n.556A>C)
c.4736A>C (p.Lys1579Thr)
n.860A>C
c.745A>C
n.1399A>C
c.4784A>C (p.Lys1595Thr)
c.4754A>C (p.Lys1585Thr)
c.4691A>C (p.Lys1564Thr)
c.3689A>C (p.Lys1230Thr)
n.3227A>C
c.4793A>C (p.Lys1598Thr)
c.4745A>C (p.Lys1582Thr)
c.4721A>C (p.Lys1574Thr)
c.4781A>C (p.Lys1594Thr)
17g.31265258A>GCA399001217NF1c.556A>G (n.556A>G)
c.4736A>G (p.Lys1579Arg)
n.860A>G
c.745A>G
n.1399A>G
c.4784A>G (p.Lys1595Arg)
c.4754A>G (p.Lys1585Arg)
c.4691A>G (p.Lys1564Arg)
c.3689A>G (p.Lys1230Arg)
n.3227A>G
c.4793A>G (p.Lys1598Arg)
c.4745A>G (p.Lys1582Arg)
c.4721A>G (p.Lys1574Arg)
c.4781A>G (p.Lys1594Arg)
 ClinVar gnomAD v4
17g.31265258A>TCA399001216NF1c.556A>T (n.556A>T)
c.4736A>T (p.Lys1579Met)
n.860A>T
c.745A>T
n.1399A>T
c.4784A>T (p.Lys1595Met)
c.4754A>T (p.Lys1585Met)
c.4691A>T (p.Lys1564Met)
c.3689A>T (p.Lys1230Met)
n.3227A>T
c.4793A>T (p.Lys1598Met)
c.4745A>T (p.Lys1582Met)
c.4721A>T (p.Lys1574Met)
c.4781A>T (p.Lys1594Met)
17g.31265259G>ACA499234115NF1c.557G>A (n.557G>A)
c.4737G>A (p.Lys1579=)
n.861G>A
c.746G>A
n.1400G>A
c.4785G>A (p.Lys1595=)
c.4755G>A (p.Lys1585=)
c.4692G>A (p.Lys1564=)
c.3690G>A (p.Lys1230=)
n.3228G>A
c.4794G>A (p.Lys1598=)
c.4746G>A (p.Lys1582=)
c.4722G>A (p.Lys1574=)
c.4782G>A (p.Lys1594=)
 ClinVar dbSNP gnomAD v4
17g.31265259G>CCA399001218NF1c.557G>C (n.557G>C)
c.4737G>C (p.Lys1579Asn)
n.861G>C
c.746G>C
n.1400G>C
c.4785G>C (p.Lys1595Asn)
c.4755G>C (p.Lys1585Asn)
c.4692G>C (p.Lys1564Asn)
c.3690G>C (p.Lys1230Asn)
n.3228G>C
c.4794G>C (p.Lys1598Asn)
c.4746G>C (p.Lys1582Asn)
c.4722G>C (p.Lys1574Asn)
c.4782G>C (p.Lys1594Asn)
 dbSNP
17g.31265259G>TCA399001219NF1c.557G>T (n.557G>T)
c.4737G>T (p.Lys1579Asn)
n.861G>T
c.746G>T
n.1400G>T
c.4785G>T (p.Lys1595Asn)
c.4755G>T (p.Lys1585Asn)
c.4692G>T (p.Lys1564Asn)
c.3690G>T (p.Lys1230Asn)
n.3228G>T
c.4794G>T (p.Lys1598Asn)
c.4746G>T (p.Lys1582Asn)
c.4722G>T (p.Lys1574Asn)
c.4782G>T (p.Lys1594Asn)
17g.31265260dupCA499234116NF1c.558dup (n.558dup)
c.4738dup (p.Ala1580GlyfsTer?)
n.862dup
c.747dup
n.1401dup
c.4786dup (p.Ala1596GlyfsTer?)
c.4756dup (p.Ala1586GlyfsTer?)
c.4693dup (p.Ala1565GlyfsTer?)
c.3691dup (p.Ala1231GlyfsTer?)
n.3229dup
c.4795dup (p.Ala1599GlyfsTer?)
c.4747dup (p.Ala1583GlyfsTer?)
c.4723dup (p.Ala1575GlyfsTer?)
c.4783dup (p.Ala1595GlyfsTer?)
 COSMIC
17g.31265260G>ACA399001220NF1c.558G>A (n.558G>A)
c.4738G>A (p.Ala1580Thr)
n.862G>A
c.747G>A
n.1401G>A
c.4786G>A (p.Ala1596Thr)
c.4756G>A (p.Ala1586Thr)
c.4693G>A (p.Ala1565Thr)
c.3691G>A (p.Ala1231Thr)
n.3229G>A
c.4795G>A (p.Ala1599Thr)
c.4747G>A (p.Ala1583Thr)
c.4723G>A (p.Ala1575Thr)
c.4783G>A (p.Ala1595Thr)
 ClinVar dbSNP gnomAD v4
17g.31265260G>CCA399001221NF1c.558G>C (n.558G>C)
c.4738G>C (p.Ala1580Pro)
n.862G>C
c.747G>C
n.1401G>C
c.4786G>C (p.Ala1596Pro)
c.4756G>C (p.Ala1586Pro)
c.4693G>C (p.Ala1565Pro)
c.3691G>C (p.Ala1231Pro)
n.3229G>C
c.4795G>C (p.Ala1599Pro)
c.4747G>C (p.Ala1583Pro)
c.4723G>C (p.Ala1575Pro)
c.4783G>C (p.Ala1595Pro)
17g.31265260G=CA2255578956NF1c.558G= (n.558G=)
c.4738G= (p.Ala1580=)
n.862G=
c.747G=
n.1401G=
c.4786G= (p.Ala1596=)
c.4756G= (p.Ala1586=)
c.4693G= (p.Ala1565=)
c.3691G= (p.Ala1231=)
n.3229G=
c.4795G= (p.Ala1599=)
c.4747G= (p.Ala1583=)
c.4723G= (p.Ala1575=)
c.4783G= (p.Ala1595=)
17g.31265260G>TCA8486472NF1c.558G>T (n.558G>T)
c.4738G>T (p.Ala1580Ser)
n.862G>T
c.747G>T
n.1401G>T
c.4786G>T (p.Ala1596Ser)
c.4756G>T (p.Ala1586Ser)
c.4693G>T (p.Ala1565Ser)
c.3691G>T (p.Ala1231Ser)
n.3229G>T
c.4795G>T (p.Ala1599Ser)
c.4747G>T (p.Ala1583Ser)
c.4723G>T (p.Ala1575Ser)
c.4783G>T (p.Ala1595Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.31265261C>ACA399001222NF1c.559C>A (n.559C>A)
c.4739C>A (p.Ala1580Asp)
n.863C>A
c.748C>A
n.1402C>A
c.4787C>A (p.Ala1596Asp)
c.4757C>A (p.Ala1586Asp)
c.4694C>A (p.Ala1565Asp)
c.3692C>A (p.Ala1231Asp)
n.3230C>A
c.4796C>A (p.Ala1599Asp)
c.4748C>A (p.Ala1583Asp)
c.4724C>A (p.Ala1575Asp)
c.4784C>A (p.Ala1595Asp)
17g.31265261C>GCA399001223NF1c.559C>G (n.559C>G)
c.4739C>G (p.Ala1580Gly)
n.863C>G
c.748C>G
n.1402C>G
c.4787C>G (p.Ala1596Gly)
c.4757C>G (p.Ala1586Gly)
c.4694C>G (p.Ala1565Gly)
c.3692C>G (p.Ala1231Gly)
n.3230C>G
c.4796C>G (p.Ala1599Gly)
c.4748C>G (p.Ala1583Gly)
c.4724C>G (p.Ala1575Gly)
c.4784C>G (p.Ala1595Gly)
 dbSNP
17g.31265261C>TCA399001224NF1c.559C>T (n.559C>T)
c.4739C>T (p.Ala1580Val)
n.863C>T
c.748C>T
n.1402C>T
c.4787C>T (p.Ala1596Val)
c.4757C>T (p.Ala1586Val)
c.4694C>T (p.Ala1565Val)
c.3692C>T (p.Ala1231Val)
n.3230C>T
c.4796C>T (p.Ala1599Val)
c.4748C>T (p.Ala1583Val)
c.4724C>T (p.Ala1575Val)
c.4784C>T (p.Ala1595Val)
17g.31265262T>ACA499234118NF1c.560T>A (n.560T>A)
c.4740T>A (p.Ala1580=)
n.864T>A
c.749T>A
n.1403T>A
c.4788T>A (p.Ala1596=)
c.4758T>A (p.Ala1586=)
c.4695T>A (p.Ala1565=)
c.3693T>A (p.Ala1231=)
n.3231T>A
c.4797T>A (p.Ala1599=)
c.4749T>A (p.Ala1583=)
c.4725T>A (p.Ala1575=)
c.4785T>A (p.Ala1595=)
 dbSNP
17g.31265262T>CCA499234119NF1c.560T>C (n.560T>C)
c.4740T>C (p.Ala1580=)
n.864T>C
c.749T>C
n.1403T>C
c.4788T>C (p.Ala1596=)
c.4758T>C (p.Ala1586=)
c.4695T>C (p.Ala1565=)
c.3693T>C (p.Ala1231=)
n.3231T>C
c.4797T>C (p.Ala1599=)
c.4749T>C (p.Ala1583=)
c.4725T>C (p.Ala1575=)
c.4785T>C (p.Ala1595=)
17g.31265262T>GCA499234120NF1c.560T>G (n.560T>G)
c.4740T>G (p.Ala1580=)
n.864T>G
c.749T>G
n.1403T>G
c.4788T>G (p.Ala1596=)
c.4758T>G (p.Ala1586=)
c.4695T>G (p.Ala1565=)
c.3693T>G (p.Ala1231=)
n.3231T>G
c.4797T>G (p.Ala1599=)
c.4749T>G (p.Ala1583=)
c.4725T>G (p.Ala1575=)
c.4785T>G (p.Ala1595=)
17g.31265264delCA2573153671NF1c.562del (n.562del)
c.4742del (p.Leu1581Ter)
n.866del
c.751del
n.1405del
c.4790del (p.Leu1597Ter)
c.4760del (p.Leu1587Ter)
c.4697del (p.Leu1566Ter)
c.3695del (p.Leu1232Ter)
n.3233del
c.4799del (p.Leu1600Ter)
c.4751del (p.Leu1584Ter)
c.4727del (p.Leu1576Ter)
c.4787del (p.Leu1596Ter)
 ClinVar dbSNP
17g.31265263_31265264delCA2695225420NF1c.561_562del (n.561_562del)
c.4741_4742del (p.Leu1581GlufsTer?)
n.865_866del
c.750_751del
n.1404_1405del
c.4789_4790del (p.Leu1597GlufsTer?)
c.4759_4760del (p.Leu1587GlufsTer?)
c.4696_4697del (p.Leu1566GlufsTer?)
c.3694_3695del (p.Leu1232GlufsTer?)
n.3232_3233del
c.4798_4799del (p.Leu1600GlufsTer?)
c.4750_4751del (p.Leu1584GlufsTer?)
c.4726_4727del (p.Leu1576GlufsTer?)
c.4786_4787del (p.Leu1596GlufsTer?)
17g.31265263T>ACA399001225NF1c.561T>A (n.561T>A)
c.4741T>A (p.Leu1581Met)
n.865T>A
c.750T>A
n.1404T>A
c.4789T>A (p.Leu1597Met)
c.4759T>A (p.Leu1587Met)
c.4696T>A (p.Leu1566Met)
c.3694T>A (p.Leu1232Met)
n.3232T>A
c.4798T>A (p.Leu1600Met)
c.4750T>A (p.Leu1584Met)
c.4726T>A (p.Leu1576Met)
c.4786T>A (p.Leu1596Met)
17g.31265263T>CCA499234121NF1c.561T>C (n.561T>C)
c.4741T>C (p.Leu1581=)
n.865T>C
c.750T>C
n.1404T>C
c.4789T>C (p.Leu1597=)
c.4759T>C (p.Leu1587=)
c.4696T>C (p.Leu1566=)
c.3694T>C (p.Leu1232=)
n.3232T>C
c.4798T>C (p.Leu1600=)
c.4750T>C (p.Leu1584=)
c.4726T>C (p.Leu1576=)
c.4786T>C (p.Leu1596=)
17g.31265263T>GCA399001226NF1c.561T>G (n.561T>G)
c.4741T>G (p.Leu1581Val)
n.865T>G
c.750T>G
n.1404T>G
c.4789T>G (p.Leu1597Val)
c.4759T>G (p.Leu1587Val)
c.4696T>G (p.Leu1566Val)
c.3694T>G (p.Leu1232Val)
n.3232T>G
c.4798T>G (p.Leu1600Val)
c.4750T>G (p.Leu1584Val)
c.4726T>G (p.Leu1576Val)
c.4786T>G (p.Leu1596Val)
17g.31265264T>ACA399001229NF1c.562T>A (n.562T>A)
c.4742T>A (p.Leu1581Ter)
n.866T>A
c.751T>A
n.1405T>A
c.4790T>A (p.Leu1597Ter)
c.4760T>A (p.Leu1587Ter)
c.4697T>A (p.Leu1566Ter)
c.3695T>A (p.Leu1232Ter)
n.3233T>A
c.4799T>A (p.Leu1600Ter)
c.4751T>A (p.Leu1584Ter)
c.4727T>A (p.Leu1576Ter)
c.4787T>A (p.Leu1596Ter)
 COSMIC
17g.31265264T>CCA399001228NF1c.562T>C (n.562T>C)
c.4742T>C (p.Leu1581Ser)
n.866T>C
c.751T>C
n.1405T>C
c.4790T>C (p.Leu1597Ser)
c.4760T>C (p.Leu1587Ser)
c.4697T>C (p.Leu1566Ser)
c.3695T>C (p.Leu1232Ser)
n.3233T>C
c.4799T>C (p.Leu1600Ser)
c.4751T>C (p.Leu1584Ser)
c.4727T>C (p.Leu1576Ser)
c.4787T>C (p.Leu1596Ser)
 ClinVar
17g.31265264T>GCA399001227NF1c.562T>G (n.562T>G)
c.4742T>G (p.Leu1581Trp)
n.866T>G
c.751T>G
n.1405T>G
c.4790T>G (p.Leu1597Trp)
c.4760T>G (p.Leu1587Trp)
c.4697T>G (p.Leu1566Trp)
c.3695T>G (p.Leu1232Trp)
n.3233T>G
c.4799T>G (p.Leu1600Trp)
c.4751T>G (p.Leu1584Trp)
c.4727T>G (p.Leu1576Trp)
c.4787T>G (p.Leu1596Trp)
17g.31265264_31265265insACA2695225421NF1c.562_563insA (n.562_563insA)
c.4742_4743insA (p.Lys1582GlufsTer?)
n.866_867insA
c.751_752insA
n.1405_1406insA
c.4790_4791insA (p.Lys1598GlufsTer?)
c.4760_4761insA (p.Lys1588GlufsTer?)
c.4697_4698insA (p.Lys1567GlufsTer?)
c.3695_3696insA (p.Lys1233GlufsTer?)
n.3233_3234insA
c.4799_4800insA (p.Lys1601GlufsTer?)
c.4751_4752insA (p.Lys1585GlufsTer?)
c.4727_4728insA (p.Lys1577GlufsTer?)
c.4787_4788insA (p.Lys1597GlufsTer?)
17g.31265265G>ACA499234125NF1c.563G>A (n.563G>A)
c.4743G>A (p.Leu1581=)
n.867G>A
c.752G>A
n.1406G>A
c.4791G>A (p.Leu1597=)
c.4761G>A (p.Leu1587=)
c.4698G>A (p.Leu1566=)
c.3696G>A (p.Leu1232=)
n.3234G>A
c.4800G>A (p.Leu1600=)
c.4752G>A (p.Leu1584=)
c.4728G>A (p.Leu1576=)
c.4788G>A (p.Leu1596=)
 dbSNP
17g.31265265G>CCA399001230NF1c.563G>C (n.563G>C)
c.4743G>C (p.Leu1581Phe)
n.867G>C
c.752G>C
n.1406G>C
c.4791G>C (p.Leu1597Phe)
c.4761G>C (p.Leu1587Phe)
c.4698G>C (p.Leu1566Phe)
c.3696G>C (p.Leu1232Phe)
n.3234G>C
c.4800G>C (p.Leu1600Phe)
c.4752G>C (p.Leu1584Phe)
c.4728G>C (p.Leu1576Phe)
c.4788G>C (p.Leu1596Phe)
 dbSNP
17g.31265265G>TCA399001231NF1c.563G>T (n.563G>T)
c.4743G>T (p.Leu1581Phe)
n.867G>T
c.752G>T
n.1406G>T
c.4791G>T (p.Leu1597Phe)
c.4761G>T (p.Leu1587Phe)
c.4698G>T (p.Leu1566Phe)
c.3696G>T (p.Leu1232Phe)
n.3234G>T
c.4800G>T (p.Leu1600Phe)
c.4752G>T (p.Leu1584Phe)
c.4728G>T (p.Leu1576Phe)
c.4788G>T (p.Leu1596Phe)
17g.31265265_31265266delinsGACA2255578957NF1c.563_564delinsGA (n.563_564delinsGA)
c.4743_4744delinsGA (p.Leu1581=)
n.867_868delinsGA
c.752_753delinsGA
n.1406_1407delinsGA
c.4791_4792delinsGA (p.Leu1597=)
c.4761_4762delinsGA (p.Leu1587=)
c.4698_4699delinsGA (p.Leu1566=)
c.3696_3697delinsGA (p.Leu1232=)
n.3234_3235delinsGA
c.4800_4801delinsGA (p.Leu1600=)
c.4752_4753delinsGA (p.Leu1584=)
c.4728_4729delinsGA (p.Leu1576=)
c.4788_4789delinsGA (p.Leu1596=)
17g.31265266A=CA2255578958NF1c.564A= (n.564A=)
c.4744A= (p.Lys1582=)
n.868A=
c.753A=
n.1407A=
c.4792A= (p.Lys1598=)
c.4762A= (p.Lys1588=)
c.4699A= (p.Lys1567=)
c.3697A= (p.Lys1233=)
n.3235A=
c.4801A= (p.Lys1601=)
c.4753A= (p.Lys1585=)
c.4729A= (p.Lys1577=)
c.4789A= (p.Lys1597=)
17g.31265266A>CCA399001232NF1c.564A>C (n.564A>C)
c.4744A>C (p.Lys1582Gln)
n.868A>C
c.753A>C
n.1407A>C
c.4792A>C (p.Lys1598Gln)
c.4762A>C (p.Lys1588Gln)
c.4699A>C (p.Lys1567Gln)
c.3697A>C (p.Lys1233Gln)
n.3235A>C
c.4801A>C (p.Lys1601Gln)
c.4753A>C (p.Lys1585Gln)
c.4729A>C (p.Lys1577Gln)
c.4789A>C (p.Lys1597Gln)
17g.31265266A>GCA399001233NF1c.564A>G (n.564A>G)
c.4744A>G (p.Lys1582Glu)
n.868A>G
c.753A>G
n.1407A>G
c.4792A>G (p.Lys1598Glu)
c.4762A>G (p.Lys1588Glu)
c.4699A>G (p.Lys1567Glu)
c.3697A>G (p.Lys1233Glu)
n.3235A>G
c.4801A>G (p.Lys1601Glu)
c.4753A>G (p.Lys1585Glu)
c.4729A>G (p.Lys1577Glu)
c.4789A>G (p.Lys1597Glu)
 ClinVar dbSNP
17g.31265266A>TCA399001234NF1c.564A>T (n.564A>T)
c.4744A>T (p.Lys1582Ter)
n.868A>T
c.753A>T
n.1407A>T
c.4792A>T (p.Lys1598Ter)
c.4762A>T (p.Lys1588Ter)
c.4699A>T (p.Lys1567Ter)
c.3697A>T (p.Lys1233Ter)
n.3235A>T
c.4801A>T (p.Lys1601Ter)
c.4753A>T (p.Lys1585Ter)
c.4729A>T (p.Lys1577Ter)
c.4789A>T (p.Lys1597Ter)
 dbSNP
17g.31265269dupCA2580093336NF1c.567dup (n.567dup)
c.4747dup (p.Thr1583AsnfsTer?)
n.871dup
c.756dup
n.1410dup
c.4795dup (p.Thr1599AsnfsTer?)
c.4765dup (p.Thr1589AsnfsTer?)
c.4702dup (p.Thr1568AsnfsTer?)
c.3700dup (p.Thr1234AsnfsTer?)
n.3238dup
c.4804dup (p.Thr1602AsnfsTer?)
c.4756dup (p.Thr1586AsnfsTer?)
c.4732dup (p.Thr1578AsnfsTer?)
c.4792dup (p.Thr1598AsnfsTer?)
 ClinVar
17g.31265269delCA645369647NF1c.567del (n.567del)
c.4747del (p.Thr1583ArgfsTer2)
n.871del
c.756del
n.1410del
c.4795del (p.Thr1599ArgfsTer2)
c.4765del (p.Thr1589ArgfsTer2)
c.4702del (p.Thr1568ArgfsTer2)
c.3700del (p.Thr1234ArgfsTer2)
n.3238del
c.4804del (p.Thr1602ArgfsTer2)
c.4756del (p.Thr1586ArgfsTer2)
c.4732del (p.Thr1578ArgfsTer2)
c.4792del (p.Thr1598ArgfsTer2)
 ClinVar dbSNP
17g.31265268_31265275delCA2695225422NF1c.566_573del (n.566_573del)
c.4746_4753del (p.Thr1583TyrfsTer?)
n.870_877del
c.755_762del
n.1409_1416del
c.4794_4801del (p.Thr1599TyrfsTer?)
c.4764_4771del (p.Thr1589TyrfsTer?)
c.4701_4708del (p.Thr1568TyrfsTer?)
c.3699_3706del (p.Thr1234TyrfsTer?)
n.3237_3244del
c.4803_4810del (p.Thr1602TyrfsTer?)
c.4755_4762del (p.Thr1586TyrfsTer?)
c.4731_4738del (p.Thr1578TyrfsTer?)
c.4791_4798del (p.Thr1598TyrfsTer?)
17g.31265267A>CCA399001235NF1c.565A>C (n.565A>C)
c.4745A>C (p.Lys1582Thr)
n.869A>C
c.754A>C
n.1408A>C
c.4793A>C (p.Lys1598Thr)
c.4763A>C (p.Lys1588Thr)
c.4700A>C (p.Lys1567Thr)
c.3698A>C (p.Lys1233Thr)
n.3236A>C
c.4802A>C (p.Lys1601Thr)
c.4754A>C (p.Lys1585Thr)
c.4730A>C (p.Lys1577Thr)
c.4790A>C (p.Lys1597Thr)
17g.31265267A>GCA399001236NF1c.565A>G (n.565A>G)
c.4745A>G (p.Lys1582Arg)
n.869A>G
c.754A>G
n.1408A>G
c.4793A>G (p.Lys1598Arg)
c.4763A>G (p.Lys1588Arg)
c.4700A>G (p.Lys1567Arg)
c.3698A>G (p.Lys1233Arg)
n.3236A>G
c.4802A>G (p.Lys1601Arg)
c.4754A>G (p.Lys1585Arg)
c.4730A>G (p.Lys1577Arg)
c.4790A>G (p.Lys1597Arg)
17g.31265267A>TCA399001237NF1c.565A>T (n.565A>T)
c.4745A>T (p.Lys1582Ile)
n.869A>T
c.754A>T
n.1408A>T
c.4793A>T (p.Lys1598Ile)
c.4763A>T (p.Lys1588Ile)
c.4700A>T (p.Lys1567Ile)
c.3698A>T (p.Lys1233Ile)
n.3236A>T
c.4802A>T (p.Lys1601Ile)
c.4754A>T (p.Lys1585Ile)
c.4730A>T (p.Lys1577Ile)
c.4790A>T (p.Lys1597Ile)
 dbSNP
17g.31265268A>CCA399001238NF1c.566A>C (n.566A>C)
c.4746A>C (p.Lys1582Asn)
n.870A>C
c.755A>C
n.1409A>C
c.4794A>C (p.Lys1598Asn)
c.4764A>C (p.Lys1588Asn)
c.4701A>C (p.Lys1567Asn)
c.3699A>C (p.Lys1233Asn)
n.3237A>C
c.4803A>C (p.Lys1601Asn)
c.4755A>C (p.Lys1585Asn)
c.4731A>C (p.Lys1577Asn)
c.4791A>C (p.Lys1597Asn)
17g.31265268A>GCA499234127NF1c.566A>G (n.566A>G)
c.4746A>G (p.Lys1582=)
n.870A>G
c.755A>G
n.1409A>G
c.4794A>G (p.Lys1598=)
c.4764A>G (p.Lys1588=)
c.4701A>G (p.Lys1567=)
c.3699A>G (p.Lys1233=)
n.3237A>G
c.4803A>G (p.Lys1601=)
c.4755A>G (p.Lys1585=)
c.4731A>G (p.Lys1577=)
c.4791A>G (p.Lys1597=)
17g.31265268A>TCA399001239NF1c.566A>T (n.566A>T)
c.4746A>T (p.Lys1582Asn)
n.870A>T
c.755A>T
n.1409A>T
c.4794A>T (p.Lys1598Asn)
c.4764A>T (p.Lys1588Asn)
c.4701A>T (p.Lys1567Asn)
c.3699A>T (p.Lys1233Asn)
n.3237A>T
c.4803A>T (p.Lys1601Asn)
c.4755A>T (p.Lys1585Asn)
c.4731A>T (p.Lys1577Asn)
c.4791A>T (p.Lys1597Asn)
 dbSNP
17g.31265269A=CA2255578959NF1c.567A= (n.567A=)
c.4747A= (p.Thr1583=)
n.871A=
c.756A=
n.1410A=
c.4795A= (p.Thr1599=)
c.4765A= (p.Thr1589=)
c.4702A= (p.Thr1568=)
c.3700A= (p.Thr1234=)
n.3238A=
c.4804A= (p.Thr1602=)
c.4756A= (p.Thr1586=)
c.4732A= (p.Thr1578=)
c.4792A= (p.Thr1598=)
17g.31265269A>CCA399001242NF1c.567A>C (n.567A>C)
c.4747A>C (p.Thr1583Pro)
n.871A>C
c.756A>C
n.1410A>C
c.4795A>C (p.Thr1599Pro)
c.4765A>C (p.Thr1589Pro)
c.4702A>C (p.Thr1568Pro)
c.3700A>C (p.Thr1234Pro)
n.3238A>C
c.4804A>C (p.Thr1602Pro)
c.4756A>C (p.Thr1586Pro)
c.4732A>C (p.Thr1578Pro)
c.4792A>C (p.Thr1598Pro)
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.31265269A>GCA399001241NF1c.567A>G (n.567A>G)
c.4747A>G (p.Thr1583Ala)
n.871A>G
c.756A>G
n.1410A>G
c.4795A>G (p.Thr1599Ala)
c.4765A>G (p.Thr1589Ala)
c.4702A>G (p.Thr1568Ala)
c.3700A>G (p.Thr1234Ala)
n.3238A>G
c.4804A>G (p.Thr1602Ala)
c.4756A>G (p.Thr1586Ala)
c.4732A>G (p.Thr1578Ala)
c.4792A>G (p.Thr1598Ala)
 ClinVar dbSNP
17g.31265269A>TCA399001240NF1c.567A>T (n.567A>T)
c.4747A>T (p.Thr1583Ser)
n.871A>T
c.756A>T
n.1410A>T
c.4795A>T (p.Thr1599Ser)
c.4765A>T (p.Thr1589Ser)
c.4702A>T (p.Thr1568Ser)
c.3700A>T (p.Thr1234Ser)
n.3238A>T
c.4804A>T (p.Thr1602Ser)
c.4756A>T (p.Thr1586Ser)
c.4732A>T (p.Thr1578Ser)
c.4792A>T (p.Thr1598Ser)
17g.31265270delCA2695225423NF1c.568del (n.568del)
c.4748del (p.Thr1583SerfsTer2)
n.872del
c.757del
n.1411del
c.4796del (p.Thr1599SerfsTer2)
c.4766del (p.Thr1589SerfsTer2)
c.4703del (p.Thr1568SerfsTer2)
c.3701del (p.Thr1234SerfsTer2)
n.3239del
c.4805del (p.Thr1602SerfsTer2)
c.4757del (p.Thr1586SerfsTer2)
c.4733del (p.Thr1578SerfsTer2)
c.4793del (p.Thr1598SerfsTer2)
17g.31265270C>ACA399001243NF1c.568C>A (n.568C>A)
c.4748C>A (p.Thr1583Lys)
n.872C>A
c.757C>A
n.1411C>A
c.4796C>A (p.Thr1599Lys)
c.4766C>A (p.Thr1589Lys)
c.4703C>A (p.Thr1568Lys)
c.3701C>A (p.Thr1234Lys)
n.3239C>A
c.4805C>A (p.Thr1602Lys)
c.4757C>A (p.Thr1586Lys)
c.4733C>A (p.Thr1578Lys)
c.4793C>A (p.Thr1598Lys)
17g.31265270C=CA2255578960NF1c.568C= (n.568C=)
c.4748C= (p.Thr1583=)
n.872C=
c.757C=
n.1411C=
c.4796C= (p.Thr1599=)
c.4766C= (p.Thr1589=)
c.4703C= (p.Thr1568=)
c.3701C= (p.Thr1234=)
n.3239C=
c.4805C= (p.Thr1602=)
c.4757C= (p.Thr1586=)
c.4733C= (p.Thr1578=)
c.4793C= (p.Thr1598=)
17g.31265270C>GCA399001244NF1c.568C>G (n.568C>G)
c.4748C>G (p.Thr1583Arg)
n.872C>G
c.757C>G
n.1411C>G
c.4796C>G (p.Thr1599Arg)
c.4766C>G (p.Thr1589Arg)
c.4703C>G (p.Thr1568Arg)
c.3701C>G (p.Thr1234Arg)
n.3239C>G
c.4805C>G (p.Thr1602Arg)
c.4757C>G (p.Thr1586Arg)
c.4733C>G (p.Thr1578Arg)
c.4793C>G (p.Thr1598Arg)
 dbSNP
17g.31265270C>TCA335711NF1c.568C>T (n.568C>T)
c.4748C>T (p.Thr1583Met)
n.872C>T
c.757C>T
n.1411C>T
c.4796C>T (p.Thr1599Met)
c.4766C>T (p.Thr1589Met)
c.4703C>T (p.Thr1568Met)
c.3701C>T (p.Thr1234Met)
n.3239C>T
c.4805C>T (p.Thr1602Met)
c.4757C>T (p.Thr1586Met)
c.4733C>T (p.Thr1578Met)
c.4793C>T (p.Thr1598Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
17g.31265271G>ACA8486473NF1c.569G>A (n.569G>A)
c.4749G>A (p.Thr1583=)
n.873G>A
c.758G>A
n.1412G>A
c.4797G>A (p.Thr1599=)
c.4767G>A (p.Thr1589=)
c.4704G>A (p.Thr1568=)
c.3702G>A (p.Thr1234=)
n.3240G>A
c.4806G>A (p.Thr1602=)
c.4758G>A (p.Thr1586=)
c.4734G>A (p.Thr1578=)
c.4794G>A (p.Thr1598=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.31265271G>CCA499234133NF1c.569G>C (n.569G>C)
c.4749G>C (p.Thr1583=)
n.873G>C
c.758G>C
n.1412G>C
c.4797G>C (p.Thr1599=)
c.4767G>C (p.Thr1589=)
c.4704G>C (p.Thr1568=)
c.3702G>C (p.Thr1234=)
n.3240G>C
c.4806G>C (p.Thr1602=)
c.4758G>C (p.Thr1586=)
c.4734G>C (p.Thr1578=)
c.4794G>C (p.Thr1598=)
 ClinVar
17g.31265271G=CA2255578961NF1c.569G= (n.569G=)
c.4749G= (p.Thr1583=)
n.873G=
c.758G=
n.1412G=
c.4797G= (p.Thr1599=)
c.4767G= (p.Thr1589=)
c.4704G= (p.Thr1568=)
c.3702G= (p.Thr1234=)
n.3240G=
c.4806G= (p.Thr1602=)
c.4758G= (p.Thr1586=)
c.4734G= (p.Thr1578=)
c.4794G= (p.Thr1598=)
17g.31265271G>TCA499234134NF1c.569G>T (n.569G>T)
c.4749G>T (p.Thr1583=)
n.873G>T
c.758G>T
n.1412G>T
c.4797G>T (p.Thr1599=)
c.4767G>T (p.Thr1589=)
c.4704G>T (p.Thr1568=)
c.3702G>T (p.Thr1234=)
n.3240G>T
c.4806G>T (p.Thr1602=)
c.4758G>T (p.Thr1586=)
c.4734G>T (p.Thr1578=)
c.4794G>T (p.Thr1598=)
17g.31265271_31265279delinsGTTAAGTATCA2255578962NF1c.569_577delinsGTTAAGTAT (n.569_577delinsGTTAAGTAT)
c.4749_4757delinsGTTAAGTAT (p.Thr1583=)
n.873_881delinsGTTAAGTAT
c.758_766delinsGTTAAGTAT
n.1412_1420delinsGTTAAGTAT
c.4797_4805delinsGTTAAGTAT (p.Thr1599=)
c.4767_4775delinsGTTAAGTAT (p.Thr1589=)
c.4704_4712delinsGTTAAGTAT (p.Thr1568=)
c.3702_3710delinsGTTAAGTAT (p.Thr1234=)
n.3240_3248delinsGTTAAGTAT
c.4806_4814delinsGTTAAGTAT (p.Thr1602=)
c.4758_4766delinsGTTAAGTAT (p.Thr1586=)
c.4734_4742delinsGTTAAGTAT (p.Thr1578=)
c.4794_4802delinsGTTAAGTAT (p.Thr1598=)
17g.31265272T>ACA399001245NF1c.570T>A (n.570T>A)
c.4750T>A (p.Leu1584Ile)
n.874T>A
c.759T>A
n.1413T>A
c.4798T>A (p.Leu1600Ile)
c.4768T>A (p.Leu1590Ile)
c.4705T>A (p.Leu1569Ile)
c.3703T>A (p.Leu1235Ile)
n.3241T>A
c.4807T>A (p.Leu1603Ile)
c.4759T>A (p.Leu1587Ile)
c.4735T>A (p.Leu1579Ile)
c.4795T>A (p.Leu1599Ile)
 dbSNP
17g.31265272T>CCA499234135NF1c.570T>C (n.570T>C)
c.4750T>C (p.Leu1584=)
n.874T>C
c.759T>C
n.1413T>C
c.4798T>C (p.Leu1600=)
c.4768T>C (p.Leu1590=)
c.4705T>C (p.Leu1569=)
c.3703T>C (p.Leu1235=)
n.3241T>C
c.4807T>C (p.Leu1603=)
c.4759T>C (p.Leu1587=)
c.4735T>C (p.Leu1579=)
c.4795T>C (p.Leu1599=)
17g.31265272T>GCA399001246NF1c.570T>G (n.570T>G)
c.4750T>G (p.Leu1584Val)
n.874T>G
c.759T>G
n.1413T>G
c.4798T>G (p.Leu1600Val)
c.4768T>G (p.Leu1590Val)
c.4705T>G (p.Leu1569Val)
c.3703T>G (p.Leu1235Val)
n.3241T>G
c.4807T>G (p.Leu1603Val)
c.4759T>G (p.Leu1587Val)
c.4735T>G (p.Leu1579Val)
c.4795T>G (p.Leu1599Val)
 ClinVar dbSNP
17g.31265272T=CA2255578963NF1c.570T= (n.570T=)
c.4750T= (p.Leu1584=)
n.874T=
c.759T=
n.1413T=
c.4798T= (p.Leu1600=)
c.4768T= (p.Leu1590=)
c.4705T= (p.Leu1569=)
c.3703T= (p.Leu1235=)
n.3241T=
c.4807T= (p.Leu1603=)
c.4759T= (p.Leu1587=)
c.4735T= (p.Leu1579=)
c.4795T= (p.Leu1599=)
17g.31265274_31265281delCA658798809NF1c.572_579del (n.572_579del)
c.4752_4759del (p.Leu1584PhefsTer29)
n.876_883del
c.761_768del
n.1415_1422del
c.4800_4807del (p.Leu1600PhefsTer29)
c.4770_4777del (p.Leu1590PhefsTer29)
c.4707_4714del (p.Leu1569PhefsTer29)
c.3705_3712del (p.Leu1235PhefsTer29)
n.3243_3250del
c.4809_4816del (p.Leu1603PhefsTer?)
c.4761_4768del (p.Leu1587PhefsTer29)
c.4737_4744del (p.Leu1579PhefsTer29)
c.4800_4807del (p.Leu1600PhefsTer?)
c.4797_4804del (p.Leu1599PhefsTer29)
 ClinVar dbSNP
17g.31265273T>ACA399001247NF1c.571T>A (n.571T>A)
c.4751T>A (p.Leu1584Ter)
n.875T>A
c.760T>A
n.1414T>A
c.4799T>A (p.Leu1600Ter)
c.4769T>A (p.Leu1590Ter)
c.4706T>A (p.Leu1569Ter)
c.3704T>A (p.Leu1235Ter)
n.3242T>A
c.4808T>A (p.Leu1603Ter)
c.4760T>A (p.Leu1587Ter)
c.4736T>A (p.Leu1579Ter)
c.4796T>A (p.Leu1599Ter)
 ClinVar dbSNP
17g.31265273T>CCA399001248NF1c.571T>C (n.571T>C)
c.4751T>C (p.Leu1584Ser)
n.875T>C
c.760T>C
n.1414T>C
c.4799T>C (p.Leu1600Ser)
c.4769T>C (p.Leu1590Ser)
c.4706T>C (p.Leu1569Ser)
c.3704T>C (p.Leu1235Ser)
n.3242T>C
c.4808T>C (p.Leu1603Ser)
c.4760T>C (p.Leu1587Ser)
c.4736T>C (p.Leu1579Ser)
c.4796T>C (p.Leu1599Ser)
 ClinVar
17g.31265273T>GCA399001249NF1c.571T>G (n.571T>G)
c.4751T>G (p.Leu1584Ter)
n.875T>G
c.760T>G
n.1414T>G
c.4799T>G (p.Leu1600Ter)
c.4769T>G (p.Leu1590Ter)
c.4706T>G (p.Leu1569Ter)
c.3704T>G (p.Leu1235Ter)
n.3242T>G
c.4808T>G (p.Leu1603Ter)
c.4760T>G (p.Leu1587Ter)
c.4736T>G (p.Leu1579Ter)
c.4796T>G (p.Leu1599Ter)
 ClinVar dbSNP COSMIC
17g.31265273T=CA2255578964NF1c.571T= (n.571T=)
c.4751T= (p.Leu1584=)
n.875T=
c.760T=
n.1414T=
c.4799T= (p.Leu1600=)
c.4769T= (p.Leu1590=)
c.4706T= (p.Leu1569=)
c.3704T= (p.Leu1235=)
n.3242T=
c.4808T= (p.Leu1603=)
c.4760T= (p.Leu1587=)
c.4736T= (p.Leu1579=)
c.4796T= (p.Leu1599=)
17g.31265273_31265275delinsTAACA2255578965NF1c.571_573delinsTAA (n.571_573delinsTAA)
c.4751_4753delinsTAA (p.Leu1584=)
n.875_877delinsTAA
c.760_762delinsTAA
n.1414_1416delinsTAA
c.4799_4801delinsTAA (p.Leu1600=)
c.4769_4771delinsTAA (p.Leu1590=)
c.4706_4708delinsTAA (p.Leu1569=)
c.3704_3706delinsTAA (p.Leu1235=)
n.3242_3244delinsTAA
c.4808_4810delinsTAA (p.Leu1603=)
c.4760_4762delinsTAA (p.Leu1587=)
c.4736_4738delinsTAA (p.Leu1579=)
c.4796_4798delinsTAA (p.Leu1599=)
17g.31265274A=CA2255578967NF1c.572A= (n.572A=)
c.4752A= (p.Leu1584=)
n.876A=
c.761A=
n.1415A=
c.4800A= (p.Leu1600=)
c.4770A= (p.Leu1590=)
c.4707A= (p.Leu1569=)
c.3705A= (p.Leu1235=)
n.3243A=
c.4809A= (p.Leu1603=)
c.4761A= (p.Leu1587=)
c.4737A= (p.Leu1579=)
c.4797A= (p.Leu1599=)
17g.31265274A>CCA399001250NF1c.572A>C (n.572A>C)
c.4752A>C (p.Leu1584Phe)
n.876A>C
c.761A>C
n.1415A>C
c.4800A>C (p.Leu1600Phe)
c.4770A>C (p.Leu1590Phe)
c.4707A>C (p.Leu1569Phe)
c.3705A>C (p.Leu1235Phe)
n.3243A>C
c.4809A>C (p.Leu1603Phe)
c.4761A>C (p.Leu1587Phe)
c.4737A>C (p.Leu1579Phe)
c.4797A>C (p.Leu1599Phe)
 ClinVar dbSNP
17g.31265274A>GCA499234141NF1c.572A>G (n.572A>G)
c.4752A>G (p.Leu1584=)
n.876A>G
c.761A>G
n.1415A>G
c.4800A>G (p.Leu1600=)
c.4770A>G (p.Leu1590=)
c.4707A>G (p.Leu1569=)
c.3705A>G (p.Leu1235=)
n.3243A>G
c.4809A>G (p.Leu1603=)
c.4761A>G (p.Leu1587=)
c.4737A>G (p.Leu1579=)
c.4797A>G (p.Leu1599=)
 ClinVar dbSNP
17g.31265274A>TCA399001251NF1c.572A>T (n.572A>T)
c.4752A>T (p.Leu1584Phe)
n.876A>T
c.761A>T
n.1415A>T
c.4800A>T (p.Leu1600Phe)
c.4770A>T (p.Leu1590Phe)
c.4707A>T (p.Leu1569Phe)
c.3705A>T (p.Leu1235Phe)
n.3243A>T
c.4809A>T (p.Leu1603Phe)
c.4761A>T (p.Leu1587Phe)
c.4737A>T (p.Leu1579Phe)
c.4797A>T (p.Leu1599Phe)
 dbSNP
17g.31265274_31265275delCA2580093339NF1c.572_573del (n.572_573del)
c.4752_4753del (p.Ser1585TyrfsTer?)
n.876_877del
c.761_762del
n.1415_1416del
c.4800_4801del (p.Ser1601TyrfsTer?)
c.4770_4771del (p.Ser1591TyrfsTer?)
c.4707_4708del (p.Ser1570TyrfsTer?)
c.3705_3706del (p.Ser1236TyrfsTer?)
n.3243_3244del
c.4809_4810del (p.Ser1604TyrfsTer?)
c.4761_4762del (p.Ser1588TyrfsTer?)
c.4737_4738del (p.Ser1580TyrfsTer?)
c.4797_4798del (p.Ser1600TyrfsTer?)
 ClinVar dbSNP
17g.31265274_31265275delinsTCA2255578966NF1c.572_573delinsT (n.572_573delinsT)
c.4752_4753delinsT (p.Leu1584PhefsTer?)
n.876_877delinsT
c.761_762delinsT
n.1415_1416delinsT
c.4800_4801delinsT (p.Leu1600PhefsTer?)
c.4770_4771delinsT (p.Leu1590PhefsTer?)
c.4707_4708delinsT (p.Leu1569PhefsTer?)
c.3705_3706delinsT (p.Leu1235PhefsTer?)
n.3243_3244delinsT
c.4809_4810delinsT (p.Leu1603PhefsTer30)
c.4761_4762delinsT (p.Leu1587PhefsTer?)
c.4737_4738delinsT (p.Leu1579PhefsTer?)
c.4797_4798delinsT (p.Leu1599PhefsTer?)
 ClinVar dbSNP
17g.31265275dupCA2739267414NF1c.573dup (n.573dup)
c.4753dup (p.Ser1585LysfsTer?)
n.877dup
c.762dup
n.1416dup
c.4801dup (p.Ser1601LysfsTer?)
c.4771dup (p.Ser1591LysfsTer?)
c.4708dup (p.Ser1570LysfsTer?)
c.3706dup (p.Ser1236LysfsTer?)
n.3244dup
c.4810dup (p.Ser1604LysfsTer?)
c.4762dup (p.Ser1588LysfsTer?)
c.4738dup (p.Ser1580LysfsTer?)
c.4798dup (p.Ser1600LysfsTer?)
 ClinVar
17g.31265275A>CCA399001254NF1c.573A>C (n.573A>C)
c.4753A>C (p.Ser1585Arg)
n.877A>C
c.762A>C
n.1416A>C
c.4801A>C (p.Ser1601Arg)
c.4771A>C (p.Ser1591Arg)
c.4708A>C (p.Ser1570Arg)
c.3706A>C (p.Ser1236Arg)
n.3244A>C
c.4810A>C (p.Ser1604Arg)
c.4762A>C (p.Ser1588Arg)
c.4738A>C (p.Ser1580Arg)
c.4798A>C (p.Ser1600Arg)
17g.31265275A>GCA399001253NF1c.573A>G (n.573A>G)
c.4753A>G (p.Ser1585Gly)
n.877A>G
c.762A>G
n.1416A>G
c.4801A>G (p.Ser1601Gly)
c.4771A>G (p.Ser1591Gly)
c.4708A>G (p.Ser1570Gly)
c.3706A>G (p.Ser1236Gly)
n.3244A>G
c.4810A>G (p.Ser1604Gly)
c.4762A>G (p.Ser1588Gly)
c.4738A>G (p.Ser1580Gly)
c.4798A>G (p.Ser1600Gly)
17g.31265275A>TCA399001252NF1c.573A>T (n.573A>T)
c.4753A>T (p.Ser1585Cys)
n.877A>T
c.762A>T
n.1416A>T
c.4801A>T (p.Ser1601Cys)
c.4771A>T (p.Ser1591Cys)
c.4708A>T (p.Ser1570Cys)
c.3706A>T (p.Ser1236Cys)
n.3244A>T
c.4810A>T (p.Ser1604Cys)
c.4762A>T (p.Ser1588Cys)
c.4738A>T (p.Ser1580Cys)
c.4798A>T (p.Ser1600Cys)
 dbSNP
17g.31265276delCA2739267415NF1c.574del (n.574del)
c.4754del (p.Ser1585IlefsTer?)
n.878del
c.763del
n.1417del
c.4802del (p.Ser1601IlefsTer?)
c.4772del (p.Ser1591IlefsTer?)
c.4709del (p.Ser1570IlefsTer?)
c.3707del (p.Ser1236IlefsTer?)
n.3245del
c.4811del (p.Ser1604IlefsTer29)
c.4763del (p.Ser1588IlefsTer?)
c.4739del (p.Ser1580IlefsTer?)
c.4799del (p.Ser1600IlefsTer?)
 ClinVar
17g.31265276G>ACA399001255NF1c.574G>A (n.574G>A)
c.4754G>A (p.Ser1585Asn)
n.878G>A
c.763G>A
n.1417G>A
c.4802G>A (p.Ser1601Asn)
c.4772G>A (p.Ser1591Asn)
c.4709G>A (p.Ser1570Asn)
c.3707G>A (p.Ser1236Asn)
n.3245G>A
c.4811G>A (p.Ser1604Asn)
c.4763G>A (p.Ser1588Asn)
c.4739G>A (p.Ser1580Asn)
c.4799G>A (p.Ser1600Asn)
 ClinVar dbSNP COSMIC COSMIC
17g.31265276G>CCA399001256NF1c.574G>C (n.574G>C)
c.4754G>C (p.Ser1585Thr)
n.878G>C
c.763G>C
n.1417G>C
c.4802G>C (p.Ser1601Thr)
c.4772G>C (p.Ser1591Thr)
c.4709G>C (p.Ser1570Thr)
c.3707G>C (p.Ser1236Thr)
n.3245G>C
c.4811G>C (p.Ser1604Thr)
c.4763G>C (p.Ser1588Thr)
c.4739G>C (p.Ser1580Thr)
c.4799G>C (p.Ser1600Thr)
 ClinVar dbSNP
17g.31265276G=CA2255578968NF1c.574G= (n.574G=)
c.4754G= (p.Ser1585=)
n.878G=
c.763G=
n.1417G=
c.4802G= (p.Ser1601=)
c.4772G= (p.Ser1591=)
c.4709G= (p.Ser1570=)
c.3707G= (p.Ser1236=)
n.3245G=
c.4811G= (p.Ser1604=)
c.4763G= (p.Ser1588=)
c.4739G= (p.Ser1580=)
c.4799G= (p.Ser1600=)
17g.31265276G>TCA399001257NF1c.574G>T (n.574G>T)
c.4754G>T (p.Ser1585Ile)
n.878G>T
c.763G>T
n.1417G>T
c.4802G>T (p.Ser1601Ile)
c.4772G>T (p.Ser1591Ile)
c.4709G>T (p.Ser1570Ile)
c.3707G>T (p.Ser1236Ile)
n.3245G>T
c.4811G>T (p.Ser1604Ile)
c.4763G>T (p.Ser1588Ile)
c.4739G>T (p.Ser1580Ile)
c.4799G>T (p.Ser1600Ile)
 dbSNP
17g.31265276_31265280delCA645582469NF1c.574_578del (n.574_578del)
c.4754_4758del (p.Ser1585IlefsTer29)
n.878_882del
c.763_767del
n.1417_1421del
c.4802_4806del (p.Ser1601IlefsTer29)
c.4772_4776del (p.Ser1591IlefsTer29)
c.4709_4713del (p.Ser1570IlefsTer29)
c.3707_3711del (p.Ser1236IlefsTer29)
n.3245_3249del
c.4811_4815del (p.Ser1604IlefsTer?)
c.4763_4767del (p.Ser1588IlefsTer29)
c.4739_4743del (p.Ser1580IlefsTer29)
c.4802_4806del (p.Ser1601IlefsTer?)
c.4799_4803del (p.Ser1600IlefsTer29)
 COSMIC
17g.31265277T>ACA399001258NF1c.575T>A (n.575T>A)
c.4755T>A (p.Ser1585Arg)
n.879T>A
c.764T>A
n.1418T>A
c.4803T>A (p.Ser1601Arg)
c.4773T>A (p.Ser1591Arg)
c.4710T>A (p.Ser1570Arg)
c.3708T>A (p.Ser1236Arg)
n.3246T>A
c.4812T>A (p.Ser1604Arg)
c.4764T>A (p.Ser1588Arg)
c.4740T>A (p.Ser1580Arg)
c.4800T>A (p.Ser1600Arg)
 dbSNP
17g.31265277T>CCA499234144NF1c.575T>C (n.575T>C)
c.4755T>C (p.Ser1585=)
n.879T>C
c.764T>C
n.1418T>C
c.4803T>C (p.Ser1601=)
c.4773T>C (p.Ser1591=)
c.4710T>C (p.Ser1570=)
c.3708T>C (p.Ser1236=)
n.3246T>C
c.4812T>C (p.Ser1604=)
c.4764T>C (p.Ser1588=)
c.4740T>C (p.Ser1580=)
c.4800T>C (p.Ser1600=)
 ClinVar dbSNP
17g.31265277T>GCA399001259NF1c.575T>G (n.575T>G)
c.4755T>G (p.Ser1585Arg)
n.879T>G
c.764T>G
n.1418T>G
c.4803T>G (p.Ser1601Arg)
c.4773T>G (p.Ser1591Arg)
c.4710T>G (p.Ser1570Arg)
c.3708T>G (p.Ser1236Arg)
n.3246T>G
c.4812T>G (p.Ser1604Arg)
c.4764T>G (p.Ser1588Arg)
c.4740T>G (p.Ser1580Arg)
c.4800T>G (p.Ser1600Arg)
 dbSNP
17g.31265278_31265281dupCA2580093342NF1c.576_579dup (n.576_579dup)
c.4756_4759dup (p.Phe1587TyrfsTer30)
n.880_883dup
c.765_768dup
n.1419_1422dup
c.4804_4807dup (p.Phe1603TyrfsTer30)
c.4774_4777dup (p.Phe1593TyrfsTer30)
c.4711_4714dup (p.Phe1572TyrfsTer30)
c.3709_3712dup (p.Phe1238TyrfsTer30)
n.3247_3250dup
c.4813_4816dup (p.Phe1606TyrfsTer?)
c.4765_4768dup (p.Phe1590TyrfsTer30)
c.4741_4744dup (p.Phe1582TyrfsTer30)
c.4804_4807dup (p.Phe1603TyrfsTer?)
c.4801_4804dup (p.Phe1602TyrfsTer30)
 ClinVar
17g.31265278A=CA2255578970NF1c.576A= (n.576A=)
c.4756A= (p.Ile1586=)
n.880A=
c.765A=
n.1419A=
c.4804A= (p.Ile1602=)
c.4774A= (p.Ile1592=)
c.4711A= (p.Ile1571=)
c.3709A= (p.Ile1237=)
n.3247A=
c.4813A= (p.Ile1605=)
c.4765A= (p.Ile1589=)
c.4741A= (p.Ile1581=)
c.4801A= (p.Ile1601=)
17g.31265278A>CCA399001260NF1c.576A>C (n.576A>C)
c.4756A>C (p.Ile1586Leu)
n.880A>C
c.765A>C
n.1419A>C
c.4804A>C (p.Ile1602Leu)
c.4774A>C (p.Ile1592Leu)
c.4711A>C (p.Ile1571Leu)
c.3709A>C (p.Ile1237Leu)
n.3247A>C
c.4813A>C (p.Ile1605Leu)
c.4765A>C (p.Ile1589Leu)
c.4741A>C (p.Ile1581Leu)
c.4801A>C (p.Ile1601Leu)
17g.31265278A>GCA399001261NF1c.576A>G (n.576A>G)
c.4756A>G (p.Ile1586Val)
n.880A>G
c.765A>G
n.1419A>G
c.4804A>G (p.Ile1602Val)
c.4774A>G (p.Ile1592Val)
c.4711A>G (p.Ile1571Val)
c.3709A>G (p.Ile1237Val)
n.3247A>G
c.4813A>G (p.Ile1605Val)
c.4765A>G (p.Ile1589Val)
c.4741A>G (p.Ile1581Val)
c.4801A>G (p.Ile1601Val)
 ClinVar dbSNP gnomAD v4
17g.31265278A>TCA399001262NF1c.576A>T (n.576A>T)
c.4756A>T (p.Ile1586Phe)
n.880A>T
c.765A>T
n.1419A>T
c.4804A>T (p.Ile1602Phe)
c.4774A>T (p.Ile1592Phe)
c.4711A>T (p.Ile1571Phe)
c.3709A>T (p.Ile1237Phe)
n.3247A>T
c.4813A>T (p.Ile1605Phe)
c.4765A>T (p.Ile1589Phe)
c.4741A>T (p.Ile1581Phe)
c.4801A>T (p.Ile1601Phe)
17g.31265278_31265279delinsATCA2255578969NF1c.576_577delinsAT (n.576_577delinsAT)
c.4756_4757delinsAT (p.Ile1586=)
n.880_881delinsAT
c.765_766delinsAT
n.1419_1420delinsAT
c.4804_4805delinsAT (p.Ile1602=)
c.4774_4775delinsAT (p.Ile1592=)
c.4711_4712delinsAT (p.Ile1571=)
c.3709_3710delinsAT (p.Ile1237=)
n.3247_3248delinsAT
c.4813_4814delinsAT (p.Ile1605=)
c.4765_4766delinsAT (p.Ile1589=)
c.4741_4742delinsAT (p.Ile1581=)
c.4801_4802delinsAT (p.Ile1601=)
17g.31265279T>ACA399001263NF1c.577T>A (n.577T>A)
c.4757T>A (p.Ile1586Asn)
n.881T>A
c.766T>A
n.1420T>A
c.4805T>A (p.Ile1602Asn)
c.4775T>A (p.Ile1592Asn)
c.4712T>A (p.Ile1571Asn)
c.3710T>A (p.Ile1237Asn)
n.3248T>A
c.4814T>A (p.Ile1605Asn)
c.4766T>A (p.Ile1589Asn)
c.4742T>A (p.Ile1581Asn)
c.4802T>A (p.Ile1601Asn)
 dbSNP
17g.31265279T>CCA8486474NF1c.577T>C (n.577T>C)
c.4757T>C (p.Ile1586Thr)
n.881T>C
c.766T>C
n.1420T>C
c.4805T>C (p.Ile1602Thr)
c.4775T>C (p.Ile1592Thr)
c.4712T>C (p.Ile1571Thr)
c.3710T>C (p.Ile1237Thr)
n.3248T>C
c.4814T>C (p.Ile1605Thr)
c.4766T>C (p.Ile1589Thr)
c.4742T>C (p.Ile1581Thr)
c.4802T>C (p.Ile1601Thr)
 ClinVar dbSNP ExAC
17g.31265279T>GCA399001264NF1c.577T>G (n.577T>G)
c.4757T>G (p.Ile1586Ser)
n.881T>G
c.766T>G
n.1420T>G
c.4805T>G (p.Ile1602Ser)
c.4775T>G (p.Ile1592Ser)
c.4712T>G (p.Ile1571Ser)
c.3710T>G (p.Ile1237Ser)
n.3248T>G
c.4814T>G (p.Ile1605Ser)
c.4766T>G (p.Ile1589Ser)
c.4742T>G (p.Ile1581Ser)
c.4802T>G (p.Ile1601Ser)
17g.31265279T=CA2255578971NF1c.577T= (n.577T=)
c.4757T= (p.Ile1586=)
n.881T=
c.766T=
n.1420T=
c.4805T= (p.Ile1602=)
c.4775T= (p.Ile1592=)
c.4712T= (p.Ile1571=)
c.3710T= (p.Ile1237=)
n.3248T=
c.4814T= (p.Ile1605=)
c.4766T= (p.Ile1589=)
c.4742T= (p.Ile1581=)
c.4802T= (p.Ile1601=)
17g.31265282delCA1139665377NF1c.580del (n.580del)
c.4760del (p.Phe1587SerfsTer?)
n.884del
c.769del
n.1423del
c.4808del (p.Phe1603SerfsTer?)
c.4778del (p.Phe1593SerfsTer?)
c.4715del (p.Phe1572SerfsTer?)
c.3713del (p.Phe1238SerfsTer?)
n.3251del
c.4817del (p.Phe1606SerfsTer27)
c.4769del (p.Phe1590SerfsTer?)
c.4745del (p.Phe1582SerfsTer?)
c.4805del (p.Phe1602SerfsTer?)
 ClinVar dbSNP
17g.31265281_31265282delCA2695225424NF1c.579_580del (n.579_580del)
c.4759_4760del (p.Phe1587LeufsTer28)
n.883_884del
c.768_769del
n.1422_1423del
c.4807_4808del (p.Phe1603LeufsTer28)
c.4777_4778del (p.Phe1593LeufsTer28)
c.4714_4715del (p.Phe1572LeufsTer28)
c.3712_3713del (p.Phe1238LeufsTer28)
n.3250_3251del
c.4816_4817del (p.Phe1606LeufsTer?)
c.4768_4769del (p.Phe1590LeufsTer28)
c.4744_4745del (p.Phe1582LeufsTer28)
c.4807_4808del (p.Phe1603LeufsTer?)
c.4804_4805del (p.Phe1602LeufsTer28)
17g.31265280T>ACA499234146NF1c.578T>A (n.578T>A)
c.4758T>A (p.Ile1586=)
n.882T>A
c.767T>A
n.1421T>A
c.4806T>A (p.Ile1602=)
c.4776T>A (p.Ile1592=)
c.4713T>A (p.Ile1571=)
c.3711T>A (p.Ile1237=)
n.3249T>A
c.4815T>A (p.Ile1605=)
c.4767T>A (p.Ile1589=)
c.4743T>A (p.Ile1581=)
c.4803T>A (p.Ile1601=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.31265280T>CCA499234148NF1c.578T>C (n.578T>C)
c.4758T>C (p.Ile1586=)
n.882T>C
c.767T>C
n.1421T>C
c.4806T>C (p.Ile1602=)
c.4776T>C (p.Ile1592=)
c.4713T>C (p.Ile1571=)
c.3711T>C (p.Ile1237=)
n.3249T>C
c.4815T>C (p.Ile1605=)
c.4767T>C (p.Ile1589=)
c.4743T>C (p.Ile1581=)
c.4803T>C (p.Ile1601=)
 dbSNP gnomAD v3 gnomAD v4
17g.31265280T>GCA399001265NF1c.578T>G (n.578T>G)
c.4758T>G (p.Ile1586Met)
n.882T>G
c.767T>G
n.1421T>G
c.4806T>G (p.Ile1602Met)
c.4776T>G (p.Ile1592Met)
c.4713T>G (p.Ile1571Met)
c.3711T>G (p.Ile1237Met)
n.3249T>G
c.4815T>G (p.Ile1605Met)
c.4767T>G (p.Ile1589Met)
c.4743T>G (p.Ile1581Met)
c.4803T>G (p.Ile1601Met)
17g.31265280T=CA2255578972NF1c.578T= (n.578T=)
c.4758T= (p.Ile1586=)
n.882T=
c.767T=
n.1421T=
c.4806T= (p.Ile1602=)
c.4776T= (p.Ile1592=)
c.4713T= (p.Ile1571=)
c.3711T= (p.Ile1237=)
n.3249T=
c.4815T= (p.Ile1605=)
c.4767T= (p.Ile1589=)
c.4743T= (p.Ile1581=)
c.4803T= (p.Ile1601=)
17g.31265281T>ACA399001267NF1c.579T>A (n.579T>A)
c.4759T>A (p.Phe1587Ile)
n.883T>A
c.768T>A
n.1422T>A
c.4807T>A (p.Phe1603Ile)
c.4777T>A (p.Phe1593Ile)
c.4714T>A (p.Phe1572Ile)
c.3712T>A (p.Phe1238Ile)
n.3250T>A
c.4816T>A (p.Phe1606Ile)
c.4768T>A (p.Phe1590Ile)
c.4744T>A (p.Phe1582Ile)
c.4804T>A (p.Phe1602Ile)
17g.31265281T>CCA399001268NF1c.579T>C (n.579T>C)
c.4759T>C (p.Phe1587Leu)
n.883T>C
c.768T>C
n.1422T>C
c.4807T>C (p.Phe1603Leu)
c.4777T>C (p.Phe1593Leu)
c.4714T>C (p.Phe1572Leu)
c.3712T>C (p.Phe1238Leu)
n.3250T>C
c.4816T>C (p.Phe1606Leu)
c.4768T>C (p.Phe1590Leu)
c.4744T>C (p.Phe1582Leu)
c.4804T>C (p.Phe1602Leu)
17g.31265281T>GCA399001266NF1c.579T>G (n.579T>G)
c.4759T>G (p.Phe1587Val)
n.883T>G
c.768T>G
n.1422T>G
c.4807T>G (p.Phe1603Val)
c.4777T>G (p.Phe1593Val)
c.4714T>G (p.Phe1572Val)
c.3712T>G (p.Phe1238Val)
n.3250T>G
c.4816T>G (p.Phe1606Val)
c.4768T>G (p.Phe1590Val)
c.4744T>G (p.Phe1582Val)
c.4804T>G (p.Phe1602Val)
17g.31265282T>ACA399001271NF1c.580T>A (n.580T>A)
c.4760T>A (p.Phe1587Tyr)
n.884T>A
c.769T>A
n.1423T>A
c.4808T>A (p.Phe1603Tyr)
c.4778T>A (p.Phe1593Tyr)
c.4715T>A (p.Phe1572Tyr)
c.3713T>A (p.Phe1238Tyr)
n.3251T>A
c.4817T>A (p.Phe1606Tyr)
c.4769T>A (p.Phe1590Tyr)
c.4745T>A (p.Phe1582Tyr)
c.4805T>A (p.Phe1602Tyr)
17g.31265282T>CCA399001269NF1c.580T>C (n.580T>C)
c.4760T>C (p.Phe1587Ser)
n.884T>C
c.769T>C
n.1423T>C
c.4808T>C (p.Phe1603Ser)
c.4778T>C (p.Phe1593Ser)
c.4715T>C (p.Phe1572Ser)
c.3713T>C (p.Phe1238Ser)
n.3251T>C
c.4817T>C (p.Phe1606Ser)
c.4769T>C (p.Phe1590Ser)
c.4745T>C (p.Phe1582Ser)
c.4805T>C (p.Phe1602Ser)
 gnomAD v4
17g.31265282T>GCA399001270NF1c.580T>G (n.580T>G)
c.4760T>G (p.Phe1587Cys)
n.884T>G
c.769T>G
n.1423T>G
c.4808T>G (p.Phe1603Cys)
c.4778T>G (p.Phe1593Cys)
c.4715T>G (p.Phe1572Cys)
c.3713T>G (p.Phe1238Cys)
n.3251T>G
c.4817T>G (p.Phe1606Cys)
c.4769T>G (p.Phe1590Cys)
c.4745T>G (p.Phe1582Cys)
c.4805T>G (p.Phe1602Cys)
17g.31265283C>ACA399001272NF1c.581C>A (n.581C>A)
c.4761C>A (p.Phe1587Leu)
n.885C>A
c.770C>A
n.1424C>A
c.4809C>A (p.Phe1603Leu)
c.4779C>A (p.Phe1593Leu)
c.4716C>A (p.Phe1572Leu)
c.3714C>A (p.Phe1238Leu)
n.3252C>A
c.4818C>A (p.Phe1606Leu)
c.4770C>A (p.Phe1590Leu)
c.4746C>A (p.Phe1582Leu)
c.4806C>A (p.Phe1602Leu)
 ClinVar dbSNP
17g.31265283C>GCA399001273NF1c.581C>G (n.581C>G)
c.4761C>G (p.Phe1587Leu)
n.885C>G
c.770C>G
n.1424C>G
c.4809C>G (p.Phe1603Leu)
c.4779C>G (p.Phe1593Leu)
c.4716C>G (p.Phe1572Leu)
c.3714C>G (p.Phe1238Leu)
n.3252C>G
c.4818C>G (p.Phe1606Leu)
c.4770C>G (p.Phe1590Leu)
c.4746C>G (p.Phe1582Leu)
c.4806C>G (p.Phe1602Leu)
 dbSNP
17g.31265283C>TCA499234154NF1c.581C>T (n.581C>T)
c.4761C>T (p.Phe1587=)
n.885C>T
c.770C>T
n.1424C>T
c.4809C>T (p.Phe1603=)
c.4779C>T (p.Phe1593=)
c.4716C>T (p.Phe1572=)
c.3714C>T (p.Phe1238=)
n.3252C>T
c.4818C>T (p.Phe1606=)
c.4770C>T (p.Phe1590=)
c.4746C>T (p.Phe1582=)
c.4806C>T (p.Phe1602=)
 dbSNP COSMIC COSMIC
17g.31265284T>ACA399001274NF1c.582T>A (n.582T>A)
c.4762T>A (p.Tyr1588Asn)
n.886T>A
c.771T>A
n.1425T>A
c.4810T>A (p.Tyr1604Asn)
c.4780T>A (p.Tyr1594Asn)
c.4717T>A (p.Tyr1573Asn)
c.3715T>A (p.Tyr1239Asn)
n.3253T>A
c.4819T>A (p.Tyr1607Asn)
c.4771T>A (p.Tyr1591Asn)
c.4747T>A (p.Tyr1583Asn)
c.4807T>A (p.Tyr1603Asn)
 dbSNP
17g.31265284T>CCA399001275NF1c.582T>C (n.582T>C)
c.4762T>C (p.Tyr1588His)
n.886T>C
c.771T>C
n.1425T>C
c.4810T>C (p.Tyr1604His)
c.4780T>C (p.Tyr1594His)
c.4717T>C (p.Tyr1573His)
c.3715T>C (p.Tyr1239His)
n.3253T>C
c.4819T>C (p.Tyr1607His)
c.4771T>C (p.Tyr1591His)
c.4747T>C (p.Tyr1583His)
c.4807T>C (p.Tyr1603His)
17g.31265284T>GCA399001276NF1c.582T>G (n.582T>G)
c.4762T>G (p.Tyr1588Asp)
n.886T>G
c.771T>G
n.1425T>G
c.4810T>G (p.Tyr1604Asp)
c.4780T>G (p.Tyr1594Asp)
c.4717T>G (p.Tyr1573Asp)
c.3715T>G (p.Tyr1239Asp)
n.3253T>G
c.4819T>G (p.Tyr1607Asp)
c.4771T>G (p.Tyr1591Asp)
c.4747T>G (p.Tyr1583Asp)
c.4807T>G (p.Tyr1603Asp)
17g.31265285A=CA2255578973NF1c.583A= (n.583A=)
c.4763A= (p.Tyr1588=)
n.887A=
c.772A=
n.1426A=
c.4811A= (p.Tyr1604=)
c.4781A= (p.Tyr1594=)
c.4718A= (p.Tyr1573=)
c.3716A= (p.Tyr1239=)
n.3254A=
c.4820A= (p.Tyr1607=)
c.4772A= (p.Tyr1591=)
c.4748A= (p.Tyr1583=)
c.4808A= (p.Tyr1603=)
17g.31265285A>CCA399001277NF1c.583A>C (n.583A>C)
c.4763A>C (p.Tyr1588Ser)
n.887A>C
c.772A>C
n.1426A>C
c.4811A>C (p.Tyr1604Ser)
c.4781A>C (p.Tyr1594Ser)
c.4718A>C (p.Tyr1573Ser)
c.3716A>C (p.Tyr1239Ser)
n.3254A>C
c.4820A>C (p.Tyr1607Ser)
c.4772A>C (p.Tyr1591Ser)
c.4748A>C (p.Tyr1583Ser)
c.4808A>C (p.Tyr1603Ser)
17g.31265285A>GCA16615251NF1c.583A>G (n.583A>G)
c.4763A>G (p.Tyr1588Cys)
n.887A>G
c.772A>G
n.1426A>G
c.4811A>G (p.Tyr1604Cys)
c.4781A>G (p.Tyr1594Cys)
c.4718A>G (p.Tyr1573Cys)
c.3716A>G (p.Tyr1239Cys)
n.3254A>G
c.4820A>G (p.Tyr1607Cys)
c.4772A>G (p.Tyr1591Cys)
c.4748A>G (p.Tyr1583Cys)
c.4808A>G (p.Tyr1603Cys)
 ClinVar dbSNP gnomAD v4
17g.31265285A>TCA399001278NF1c.583A>T (n.583A>T)
c.4763A>T (p.Tyr1588Phe)
n.887A>T
c.772A>T
n.1426A>T
c.4811A>T (p.Tyr1604Phe)
c.4781A>T (p.Tyr1594Phe)
c.4718A>T (p.Tyr1573Phe)
c.3716A>T (p.Tyr1239Phe)
n.3254A>T
c.4820A>T (p.Tyr1607Phe)
c.4772A>T (p.Tyr1591Phe)
c.4748A>T (p.Tyr1583Phe)
c.4808A>T (p.Tyr1603Phe)
 dbSNP
17g.31265285_31265286delinsACCA2255578974NF1c.583_584delinsAC (n.583_584delinsAC)
c.4763_4764delinsAC (p.Tyr1588=)
n.887_888delinsAC
c.772_773delinsAC
n.1426_1427delinsAC
c.4811_4812delinsAC (p.Tyr1604=)
c.4781_4782delinsAC (p.Tyr1594=)
c.4718_4719delinsAC (p.Tyr1573=)
c.3716_3717delinsAC (p.Tyr1239=)
n.3254_3255delinsAC
c.4820_4821delinsAC (p.Tyr1607=)
c.4772_4773delinsAC (p.Tyr1591=)
c.4748_4749delinsAC (p.Tyr1583=)
c.4808_4809delinsAC (p.Tyr1603=)
17g.31265285_31265286dupCA2695225425NF1c.583_584dup (n.583_584dup)
c.4763_4764dup (p.Gln1589ThrfsTer30)
n.887_888dup
c.772_773dup
n.1426_1427dup
c.4811_4812dup (p.Gln1605ThrfsTer30)
c.4781_4782dup (p.Gln1595ThrfsTer30)
c.4718_4719dup (p.Gln1574ThrfsTer30)
c.3716_3717dup (p.Gln1240ThrfsTer30)
n.3254_3255dup
c.4820_4821dup (p.Gln1608ThrfsTer26)
c.4772_4773dup (p.Gln1592ThrfsTer30)
c.4748_4749dup (p.Gln1584ThrfsTer30)
c.4811_4812dup (p.Gln1605ThrfsTer?)
c.4808_4809dup (p.Gln1604ThrfsTer30)
17g.31265286C>ACA399001279NF1c.584C>A (n.584C>A)
c.4764C>A (p.Tyr1588Ter)
n.888C>A
c.773C>A
n.1427C>A
c.4812C>A (p.Tyr1604Ter)
c.4782C>A (p.Tyr1594Ter)
c.4719C>A (p.Tyr1573Ter)
c.3717C>A (p.Tyr1239Ter)
n.3255C>A
c.4821C>A (p.Tyr1607Ter)
c.4773C>A (p.Tyr1591Ter)
c.4749C>A (p.Tyr1583Ter)
c.4809C>A (p.Tyr1603Ter)
 ClinVar dbSNP
17g.31265286C>GCA399001280NF1c.584C>G (n.584C>G)
c.4764C>G (p.Tyr1588Ter)
n.888C>G
c.773C>G
n.1427C>G
c.4812C>G (p.Tyr1604Ter)
c.4782C>G (p.Tyr1594Ter)
c.4719C>G (p.Tyr1573Ter)
c.3717C>G (p.Tyr1239Ter)
n.3255C>G
c.4821C>G (p.Tyr1607Ter)
c.4773C>G (p.Tyr1591Ter)
c.4749C>G (p.Tyr1583Ter)
c.4809C>G (p.Tyr1603Ter)
 ClinVar dbSNP COSMIC COSMIC
17g.31265286C>TCA499234158NF1c.584C>T (n.584C>T)
c.4764C>T (p.Tyr1588=)
n.888C>T
c.773C>T
n.1427C>T
c.4812C>T (p.Tyr1604=)
c.4782C>T (p.Tyr1594=)
c.4719C>T (p.Tyr1573=)
c.3717C>T (p.Tyr1239=)
n.3255C>T
c.4821C>T (p.Tyr1607=)
c.4773C>T (p.Tyr1591=)
c.4749C>T (p.Tyr1583=)
c.4809C>T (p.Tyr1603=)
 ClinVar
17g.31265287delCA658824481NF1c.585del (n.585del)
c.4765del (p.Gln1589LysfsTer29)
n.889del
c.774del
n.1428del
c.4813del (p.Gln1605LysfsTer29)
c.4783del (p.Gln1595LysfsTer29)
c.4720del (p.Gln1574LysfsTer29)
c.3718del (p.Gln1240LysfsTer29)
n.3256del
c.4822del (p.Gln1608LysfsTer25)
c.4774del (p.Gln1592LysfsTer29)
c.4750del (p.Gln1584LysfsTer29)
c.4813del (p.Gln1605LysfsTer?)
c.4810del (p.Gln1604LysfsTer29)
 ClinVar dbSNP
17g.31265287C>ACA399001283NF1c.585C>A (n.585C>A)
c.4765C>A (p.Gln1589Lys)
n.889C>A
c.774C>A
n.1428C>A
c.4813C>A (p.Gln1605Lys)
c.4783C>A (p.Gln1595Lys)
c.4720C>A (p.Gln1574Lys)
c.3718C>A (p.Gln1240Lys)
n.3256C>A
c.4822C>A (p.Gln1608Lys)
c.4774C>A (p.Gln1592Lys)
c.4750C>A (p.Gln1584Lys)
c.4810C>A (p.Gln1604Lys)
 dbSNP
17g.31265287C=CA2255578975NF1c.585C= (n.585C=)
c.4765C= (p.Gln1589=)
n.889C=
c.774C=
n.1428C=
c.4813C= (p.Gln1605=)
c.4783C= (p.Gln1595=)
c.4720C= (p.Gln1574=)
c.3718C= (p.Gln1240=)
n.3256C=
c.4822C= (p.Gln1608=)
c.4774C= (p.Gln1592=)
c.4750C= (p.Gln1584=)
c.4810C= (p.Gln1604=)
17g.31265287C>GCA399001281NF1c.585C>G (n.585C>G)
c.4765C>G (p.Gln1589Glu)
n.889C>G
c.774C>G
n.1428C>G
c.4813C>G (p.Gln1605Glu)
c.4783C>G (p.Gln1595Glu)
c.4720C>G (p.Gln1574Glu)
c.3718C>G (p.Gln1240Glu)
n.3256C>G
c.4822C>G (p.Gln1608Glu)
c.4774C>G (p.Gln1592Glu)
c.4750C>G (p.Gln1584Glu)
c.4810C>G (p.Gln1604Glu)
17g.31265287C>TCA399001282NF1c.585C>T (n.585C>T)
c.4765C>T (p.Gln1589Ter)
n.889C>T
c.774C>T
n.1428C>T
c.4813C>T (p.Gln1605Ter)
c.4783C>T (p.Gln1595Ter)
c.4720C>T (p.Gln1574Ter)
c.3718C>T (p.Gln1240Ter)
n.3256C>T
c.4822C>T (p.Gln1608Ter)
c.4774C>T (p.Gln1592Ter)
c.4750C>T (p.Gln1584Ter)
c.4810C>T (p.Gln1604Ter)
 ClinVar dbSNP
17g.31265288A>CCA399001284NF1c.586A>C (n.586A>C)
c.4766A>C (p.Gln1589Pro)
n.890A>C
c.775A>C
n.1429A>C
c.4814A>C (p.Gln1605Pro)
c.4784A>C (p.Gln1595Pro)
c.4721A>C (p.Gln1574Pro)
c.3719A>C (p.Gln1240Pro)
n.3257A>C
c.4823A>C (p.Gln1608Pro)
c.4775A>C (p.Gln1592Pro)
c.4751A>C (p.Gln1584Pro)
c.4811A>C (p.Gln1604Pro)
17g.31265288A>GCA399001285NF1c.586A>G (n.586A>G)
c.4766A>G (p.Gln1589Arg)
n.890A>G
c.775A>G
n.1429A>G
c.4814A>G (p.Gln1605Arg)
c.4784A>G (p.Gln1595Arg)
c.4721A>G (p.Gln1574Arg)
c.3719A>G (p.Gln1240Arg)
n.3257A>G
c.4823A>G (p.Gln1608Arg)
c.4775A>G (p.Gln1592Arg)
c.4751A>G (p.Gln1584Arg)
c.4811A>G (p.Gln1604Arg)
 ClinVar dbSNP
17g.31265288A>TCA399001286NF1c.586A>T (n.586A>T)
c.4766A>T (p.Gln1589Leu)
n.890A>T
c.775A>T
n.1429A>T
c.4814A>T (p.Gln1605Leu)
c.4784A>T (p.Gln1595Leu)
c.4721A>T (p.Gln1574Leu)
c.3719A>T (p.Gln1240Leu)
n.3257A>T
c.4823A>T (p.Gln1608Leu)
c.4775A>T (p.Gln1592Leu)
c.4751A>T (p.Gln1584Leu)
c.4811A>T (p.Gln1604Leu)
17g.31265297_31265311delCA2695201278NF1c.595_609del (n.595_609del)
c.4775_4789del (p.Thr1592_Gly1596del)
n.899_913del
c.784_798del
n.1438_1452del
c.4823_4837del (p.Thr1608_Gly1612del)
c.4793_4807del (p.Thr1598_Gly1602del)
c.4730_4744del (p.Thr1577_Gly1581del)
c.3728_3742del (p.Thr1243_Gly1247del)
n.3266_3280del
c.4832_4846del (p.Thr1611_Gly1615del)
c.4784_4798del (p.Thr1595_Gly1599del)
c.4760_4774del (p.Thr1587_Gly1591del)
c.4820_4834del (p.Thr1607_Gly1611del)
 ClinVar
17g.31265289A>CCA399001287NF1c.587A>C (n.587A>C)
c.4767A>C (p.Gln1589His)
n.891A>C
c.776A>C
n.1430A>C
c.4815A>C (p.Gln1605His)
c.4785A>C (p.Gln1595His)
c.4722A>C (p.Gln1574His)
c.3720A>C (p.Gln1240His)
n.3258A>C
c.4824A>C (p.Gln1608His)
c.4776A>C (p.Gln1592His)
c.4752A>C (p.Gln1584His)
c.4812A>C (p.Gln1604His)
 gnomAD v4
17g.31265289A>GCA499234161NF1c.587A>G (n.587A>G)
c.4767A>G (p.Gln1589=)
n.891A>G
c.776A>G
n.1430A>G
c.4815A>G (p.Gln1605=)
c.4785A>G (p.Gln1595=)
c.4722A>G (p.Gln1574=)
c.3720A>G (p.Gln1240=)
n.3258A>G
c.4824A>G (p.Gln1608=)
c.4776A>G (p.Gln1592=)
c.4752A>G (p.Gln1584=)
c.4812A>G (p.Gln1604=)
17g.31265289A>TCA399001288NF1c.587A>T (n.587A>T)
c.4767A>T (p.Gln1589His)
n.891A>T
c.776A>T
n.1430A>T
c.4815A>T (p.Gln1605His)
c.4785A>T (p.Gln1595His)
c.4722A>T (p.Gln1574His)
c.3720A>T (p.Gln1240His)
n.3258A>T
c.4824A>T (p.Gln1608His)
c.4776A>T (p.Gln1592His)
c.4752A>T (p.Gln1584His)
c.4812A>T (p.Gln1604His)
 dbSNP
17g.31265290G>ACA399001289NF1c.588G>A (n.588G>A)
c.4768G>A (p.Ala1590Thr)
n.892G>A
c.777G>A
n.1431G>A
c.4816G>A (p.Ala1606Thr)
c.4786G>A (p.Ala1596Thr)
c.4723G>A (p.Ala1575Thr)
c.3721G>A (p.Ala1241Thr)
n.3259G>A
c.4825G>A (p.Ala1609Thr)
c.4777G>A (p.Ala1593Thr)
c.4753G>A (p.Ala1585Thr)
c.4813G>A (p.Ala1605Thr)
 dbSNP gnomAD v4
17g.31265290G>CCA399001290NF1c.588G>C (n.588G>C)
c.4768G>C (p.Ala1590Pro)
n.892G>C
c.777G>C
n.1431G>C
c.4816G>C (p.Ala1606Pro)
c.4786G>C (p.Ala1596Pro)
c.4723G>C (p.Ala1575Pro)
c.3721G>C (p.Ala1241Pro)
n.3259G>C
c.4825G>C (p.Ala1609Pro)
c.4777G>C (p.Ala1593Pro)
c.4753G>C (p.Ala1585Pro)
c.4813G>C (p.Ala1605Pro)
 ClinVar dbSNP
17g.31265290G>TCA399001291NF1c.588G>T (n.588G>T)
c.4768G>T (p.Ala1590Ser)
n.892G>T
c.777G>T
n.1431G>T
c.4816G>T (p.Ala1606Ser)
c.4786G>T (p.Ala1596Ser)
c.4723G>T (p.Ala1575Ser)
c.3721G>T (p.Ala1241Ser)
n.3259G>T
c.4825G>T (p.Ala1609Ser)
c.4777G>T (p.Ala1593Ser)
c.4753G>T (p.Ala1585Ser)
c.4813G>T (p.Ala1605Ser)
17g.31265291_31265294dupCA2580093349NF1c.589_592dup (n.589_592dup)
c.4769_4772dup (p.Thr1592TrpfsTer25)
n.893_896dup
c.778_781dup
n.1432_1435dup
c.4817_4820dup (p.Thr1608TrpfsTer25)
c.4787_4790dup (p.Thr1598TrpfsTer25)
c.4724_4727dup (p.Thr1577TrpfsTer25)
c.3722_3725dup (p.Thr1243TrpfsTer25)
n.3260_3263dup
c.4826_4829dup (p.Thr1611TrpfsTer?)
c.4778_4781dup (p.Thr1595TrpfsTer25)
c.4754_4757dup (p.Thr1587TrpfsTer25)
c.4817_4820dup (p.Thr1608TrpfsTer?)
c.4814_4817dup (p.Thr1607TrpfsTer25)
 ClinVar
17g.31265291C>ACA399001292NF1c.589C>A (n.589C>A)
c.4769C>A (p.Ala1590Asp)
n.893C>A
c.778C>A
n.1432C>A
c.4817C>A (p.Ala1606Asp)
c.4787C>A (p.Ala1596Asp)
c.4724C>A (p.Ala1575Asp)
c.3722C>A (p.Ala1241Asp)
n.3260C>A
c.4826C>A (p.Ala1609Asp)
c.4778C>A (p.Ala1593Asp)
c.4754C>A (p.Ala1585Asp)
c.4814C>A (p.Ala1605Asp)
 ClinVar dbSNP
17g.31265291C=CA2255578976NF1c.589C= (n.589C=)
c.4769C= (p.Ala1590=)
n.893C=
c.778C=
n.1432C=
c.4817C= (p.Ala1606=)
c.4787C= (p.Ala1596=)
c.4724C= (p.Ala1575=)
c.3722C= (p.Ala1241=)
n.3260C=
c.4826C= (p.Ala1609=)
c.4778C= (p.Ala1593=)
c.4754C= (p.Ala1585=)
c.4814C= (p.Ala1605=)
17g.31265291C>GCA399001293NF1c.589C>G (n.589C>G)
c.4769C>G (p.Ala1590Gly)
n.893C>G
c.778C>G
n.1432C>G
c.4817C>G (p.Ala1606Gly)
c.4787C>G (p.Ala1596Gly)
c.4724C>G (p.Ala1575Gly)
c.3722C>G (p.Ala1241Gly)
n.3260C>G
c.4826C>G (p.Ala1609Gly)
c.4778C>G (p.Ala1593Gly)
c.4754C>G (p.Ala1585Gly)
c.4814C>G (p.Ala1605Gly)
 ClinVar dbSNP gnomAD v4
17g.31265291C>TCA399001294NF1c.589C>T (n.589C>T)
c.4769C>T (p.Ala1590Val)
n.893C>T
c.778C>T
n.1432C>T
c.4817C>T (p.Ala1606Val)
c.4787C>T (p.Ala1596Val)
c.4724C>T (p.Ala1575Val)
c.3722C>T (p.Ala1241Val)
n.3260C>T
c.4826C>T (p.Ala1609Val)
c.4778C>T (p.Ala1593Val)
c.4754C>T (p.Ala1585Val)
c.4814C>T (p.Ala1605Val)
 dbSNP
17g.31265292T>ACA499234164NF1c.590T>A (n.590T>A)
c.4770T>A (p.Ala1590=)
n.894T>A
c.779T>A
n.1433T>A
c.4818T>A (p.Ala1606=)
c.4788T>A (p.Ala1596=)
c.4725T>A (p.Ala1575=)
c.3723T>A (p.Ala1241=)
n.3261T>A
c.4827T>A (p.Ala1609=)
c.4779T>A (p.Ala1593=)
c.4755T>A (p.Ala1585=)
c.4815T>A (p.Ala1605=)
17g.31265292T>CCA499234165NF1c.590T>C (n.590T>C)
c.4770T>C (p.Ala1590=)
n.894T>C
c.779T>C
n.1433T>C
c.4818T>C (p.Ala1606=)
c.4788T>C (p.Ala1596=)
c.4725T>C (p.Ala1575=)
c.3723T>C (p.Ala1241=)
n.3261T>C
c.4827T>C (p.Ala1609=)
c.4779T>C (p.Ala1593=)
c.4755T>C (p.Ala1585=)
c.4815T>C (p.Ala1605=)
17g.31265292T>GCA499234166NF1c.590T>G (n.590T>G)
c.4770T>G (p.Ala1590=)
n.894T>G
c.779T>G
n.1433T>G
c.4818T>G (p.Ala1606=)
c.4788T>G (p.Ala1596=)
c.4725T>G (p.Ala1575=)
c.3723T>G (p.Ala1241=)
n.3261T>G
c.4827T>G (p.Ala1609=)
c.4779T>G (p.Ala1593=)
c.4755T>G (p.Ala1585=)
c.4815T>G (p.Ala1605=)
17g.31265292_31265293delinsTGCA2255578977NF1c.590_591delinsTG (n.590_591delinsTG)
c.4770_4771delinsTG (p.Ala1590=)
n.894_895delinsTG
c.779_780delinsTG
n.1433_1434delinsTG
c.4818_4819delinsTG (p.Ala1606=)
c.4788_4789delinsTG (p.Ala1596=)
c.4725_4726delinsTG (p.Ala1575=)
c.3723_3724delinsTG (p.Ala1241=)
n.3261_3262delinsTG
c.4827_4828delinsTG (p.Ala1609=)
c.4779_4780delinsTG (p.Ala1593=)
c.4755_4756delinsTG (p.Ala1585=)
c.4815_4816delinsTG (p.Ala1605=)
17g.31265293G>ACA399001296NF1c.591G>A (n.591G>A)
c.4771G>A (p.Gly1591Arg)
n.895G>A
c.780G>A
n.1434G>A
c.4819G>A (p.Gly1607Arg)
c.4789G>A (p.Gly1597Arg)
c.4726G>A (p.Gly1576Arg)
c.3724G>A (p.Gly1242Arg)
n.3262G>A
c.4828G>A (p.Gly1610Arg)
c.4780G>A (p.Gly1594Arg)
c.4756G>A (p.Gly1586Arg)
c.4816G>A (p.Gly1606Arg)
 ClinVar
17g.31265293G>CCA399001297NF1c.591G>C (n.591G>C)
c.4771G>C (p.Gly1591Arg)
n.895G>C
c.780G>C
n.1434G>C
c.4819G>C (p.Gly1607Arg)
c.4789G>C (p.Gly1597Arg)
c.4726G>C (p.Gly1576Arg)
c.3724G>C (p.Gly1242Arg)
n.3262G>C
c.4828G>C (p.Gly1610Arg)
c.4780G>C (p.Gly1594Arg)
c.4756G>C (p.Gly1586Arg)
c.4816G>C (p.Gly1606Arg)
17g.31265293G>TCA399001295NF1c.591G>T (n.591G>T)
c.4771G>T (p.Gly1591Trp)
n.895G>T
c.780G>T
n.1434G>T
c.4819G>T (p.Gly1607Trp)
c.4789G>T (p.Gly1597Trp)
c.4726G>T (p.Gly1576Trp)
c.3724G>T (p.Gly1242Trp)
n.3262G>T
c.4828G>T (p.Gly1610Trp)
c.4780G>T (p.Gly1594Trp)
c.4756G>T (p.Gly1586Trp)
c.4816G>T (p.Gly1606Trp)
17g.31265295dupCA658684014NF1c.593dup (n.593dup)
c.4773dup (p.Thr1592AspfsTer24)
n.897dup
c.782dup
n.1436dup
c.4821dup (p.Thr1608AspfsTer24)
c.4791dup (p.Thr1598AspfsTer24)
c.4728dup (p.Thr1577AspfsTer24)
c.3726dup (p.Thr1243AspfsTer24)
n.3264dup
c.4830dup (p.Thr1611AspfsTer?)
c.4782dup (p.Thr1595AspfsTer24)
c.4758dup (p.Thr1587AspfsTer24)
c.4821dup (p.Thr1608AspfsTer?)
c.4818dup (p.Thr1607AspfsTer24)
 ClinVar dbSNP
17g.31265295delCA728030602NF1c.593del (n.593del)
c.4773del (p.Thr1592LeufsTer26)
n.897del
c.782del
n.1436del
c.4821del (p.Thr1608LeufsTer26)
c.4791del (p.Thr1598LeufsTer26)
c.4728del (p.Thr1577LeufsTer26)
c.3726del (p.Thr1243LeufsTer26)
n.3264del
c.4830del (p.Thr1611LeufsTer22)
c.4782del (p.Thr1595LeufsTer26)
c.4758del (p.Thr1587LeufsTer26)
c.4821del (p.Thr1608LeufsTer?)
c.4818del (p.Thr1607LeufsTer26)
 dbSNP
17g.31265294G>ACA399001298NF1c.592G>A (n.592G>A)
c.4772G>A (p.Gly1591Glu)
n.896G>A
c.781G>A
n.1435G>A
c.4820G>A (p.Gly1607Glu)
c.4790G>A (p.Gly1597Glu)
c.4727G>A (p.Gly1576Glu)
c.3725G>A (p.Gly1242Glu)
n.3263G>A
c.4829G>A (p.Gly1610Glu)
c.4781G>A (p.Gly1594Glu)
c.4757G>A (p.Gly1586Glu)
c.4817G>A (p.Gly1606Glu)
 ClinVar dbSNP
17g.31265294G>CCA399001299NF1c.592G>C (n.592G>C)
c.4772G>C (p.Gly1591Ala)
n.896G>C
c.781G>C
n.1435G>C
c.4820G>C (p.Gly1607Ala)
c.4790G>C (p.Gly1597Ala)
c.4727G>C (p.Gly1576Ala)
c.3725G>C (p.Gly1242Ala)
n.3263G>C
c.4829G>C (p.Gly1610Ala)
c.4781G>C (p.Gly1594Ala)
c.4757G>C (p.Gly1586Ala)
c.4817G>C (p.Gly1606Ala)
 ClinVar dbSNP
17g.31265294G=CA2255578978NF1c.592G= (n.592G=)
c.4772G= (p.Gly1591=)
n.896G=
c.781G=
n.1435G=
c.4820G= (p.Gly1607=)
c.4790G= (p.Gly1597=)
c.4727G= (p.Gly1576=)
c.3725G= (p.Gly1242=)
n.3263G=
c.4829G= (p.Gly1610=)
c.4781G= (p.Gly1594=)
c.4757G= (p.Gly1586=)
c.4817G= (p.Gly1606=)
17g.31265294G>TCA399001300NF1c.592G>T (n.592G>T)
c.4772G>T (p.Gly1591Val)
n.896G>T
c.781G>T
n.1435G>T
c.4820G>T (p.Gly1607Val)
c.4790G>T (p.Gly1597Val)
c.4727G>T (p.Gly1576Val)
c.3725G>T (p.Gly1242Val)
n.3263G>T
c.4829G>T (p.Gly1610Val)
c.4781G>T (p.Gly1594Val)
c.4757G>T (p.Gly1586Val)
c.4817G>T (p.Gly1606Val)
 ClinVar dbSNP
17g.31265295G>ACA499234168NF1c.593G>A (n.593G>A)
c.4773G>A (p.Gly1591=)
n.897G>A
c.782G>A
n.1436G>A
c.4821G>A (p.Gly1607=)
c.4791G>A (p.Gly1597=)
c.4728G>A (p.Gly1576=)
c.3726G>A (p.Gly1242=)
n.3264G>A
c.4830G>A (p.Gly1610=)
c.4782G>A (p.Gly1594=)
c.4758G>A (p.Gly1586=)
c.4818G>A (p.Gly1606=)
 ClinVar dbSNP gnomAD v4
17g.31265295G>CCA499234170NF1c.593G>C (n.593G>C)
c.4773G>C (p.Gly1591=)
n.897G>C
c.782G>C
n.1436G>C
c.4821G>C (p.Gly1607=)
c.4791G>C (p.Gly1597=)
c.4728G>C (p.Gly1576=)
c.3726G>C (p.Gly1242=)
n.3264G>C
c.4830G>C (p.Gly1610=)
c.4782G>C (p.Gly1594=)
c.4758G>C (p.Gly1586=)
c.4818G>C (p.Gly1606=)
 dbSNP
17g.31265295G=CA2255578979NF1c.593G= (n.593G=)
c.4773G= (p.Gly1591=)
n.897G=
c.782G=
n.1436G=
c.4821G= (p.Gly1607=)
c.4791G= (p.Gly1597=)
c.4728G= (p.Gly1576=)
c.3726G= (p.Gly1242=)
n.3264G=
c.4830G= (p.Gly1610=)
c.4782G= (p.Gly1594=)
c.4758G= (p.Gly1586=)
c.4818G= (p.Gly1606=)
17g.31265295G>TCA499234169NF1c.593G>T (n.593G>T)
c.4773G>T (p.Gly1591=)
n.897G>T
c.782G>T
n.1436G>T
c.4821G>T (p.Gly1607=)
c.4791G>T (p.Gly1597=)
c.4728G>T (p.Gly1576=)
c.3726G>T (p.Gly1242=)
n.3264G>T
c.4830G>T (p.Gly1610=)
c.4782G>T (p.Gly1594=)
c.4758G>T (p.Gly1586=)
c.4818G>T (p.Gly1606=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.31265296delCA499234173NF1c.594del (n.594del)
c.4774del (p.Thr1592LeufsTer26)
n.898del
c.783del
n.1437del
c.4822del (p.Thr1608LeufsTer26)
c.4792del (p.Thr1598LeufsTer26)
c.4729del (p.Thr1577LeufsTer26)
c.3727del (p.Thr1243LeufsTer26)
n.3265del
c.4831del (p.Thr1611LeufsTer22)
c.4783del (p.Thr1595LeufsTer26)
c.4759del (p.Thr1587LeufsTer26)
c.4822del (p.Thr1608LeufsTer?)
c.4819del (p.Thr1607LeufsTer26)
 COSMIC
17g.31265296A>CCA399001301NF1c.594A>C (n.594A>C)
c.4774A>C (p.Thr1592Pro)
n.898A>C
c.783A>C
n.1437A>C
c.4822A>C (p.Thr1608Pro)
c.4792A>C (p.Thr1598Pro)
c.4729A>C (p.Thr1577Pro)
c.3727A>C (p.Thr1243Pro)
n.3265A>C
c.4831A>C (p.Thr1611Pro)
c.4783A>C (p.Thr1595Pro)
c.4759A>C (p.Thr1587Pro)
c.4819A>C (p.Thr1607Pro)
17g.31265296A>GCA399001302NF1c.594A>G (n.594A>G)
c.4774A>G (p.Thr1592Ala)
n.898A>G
c.783A>G
n.1437A>G
c.4822A>G (p.Thr1608Ala)
c.4792A>G (p.Thr1598Ala)
c.4729A>G (p.Thr1577Ala)
c.3727A>G (p.Thr1243Ala)
n.3265A>G
c.4831A>G (p.Thr1611Ala)
c.4783A>G (p.Thr1595Ala)
c.4759A>G (p.Thr1587Ala)
c.4819A>G (p.Thr1607Ala)
 ClinVar COSMIC COSMIC
17g.31265296A>TCA399001303NF1c.594A>T (n.594A>T)
c.4774A>T (p.Thr1592Ser)
n.898A>T
c.783A>T
n.1437A>T
c.4822A>T (p.Thr1608Ser)
c.4792A>T (p.Thr1598Ser)
c.4729A>T (p.Thr1577Ser)
c.3727A>T (p.Thr1243Ser)
n.3265A>T
c.4831A>T (p.Thr1611Ser)
c.4783A>T (p.Thr1595Ser)
c.4759A>T (p.Thr1587Ser)
c.4819A>T (p.Thr1607Ser)
 dbSNP
17g.31265297C>ACA8486475NF1c.595C>A (n.595C>A)
c.4775C>A (p.Thr1592Asn)
n.899C>A
c.784C>A
n.1438C>A
c.4823C>A (p.Thr1608Asn)
c.4793C>A (p.Thr1598Asn)
c.4730C>A (p.Thr1577Asn)
c.3728C>A (p.Thr1243Asn)
n.3266C>A
c.4832C>A (p.Thr1611Asn)
c.4784C>A (p.Thr1595Asn)
c.4760C>A (p.Thr1587Asn)
c.4820C>A (p.Thr1607Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.31265297C=CA2255578980NF1c.595C= (n.595C=)
c.4775C= (p.Thr1592=)
n.899C=
c.784C=
n.1438C=
c.4823C= (p.Thr1608=)
c.4793C= (p.Thr1598=)
c.4730C= (p.Thr1577=)
c.3728C= (p.Thr1243=)
n.3266C=
c.4832C= (p.Thr1611=)
c.4784C= (p.Thr1595=)
c.4760C= (p.Thr1587=)
c.4820C= (p.Thr1607=)
17g.31265297C>GCA399001304NF1c.595C>G (n.595C>G)
c.4775C>G (p.Thr1592Ser)
n.899C>G
c.784C>G
n.1438C>G
c.4823C>G (p.Thr1608Ser)
c.4793C>G (p.Thr1598Ser)
c.4730C>G (p.Thr1577Ser)
c.3728C>G (p.Thr1243Ser)
n.3266C>G
c.4832C>G (p.Thr1611Ser)
c.4784C>G (p.Thr1595Ser)
c.4760C>G (p.Thr1587Ser)
c.4820C>G (p.Thr1607Ser)
 dbSNP
17g.31265297C>TCA399001305NF1c.595C>T (n.595C>T)
c.4775C>T (p.Thr1592Ile)
n.899C>T
c.784C>T
n.1438C>T
c.4823C>T (p.Thr1608Ile)
c.4793C>T (p.Thr1598Ile)
c.4730C>T (p.Thr1577Ile)
c.3728C>T (p.Thr1243Ile)
n.3266C>T
c.4832C>T (p.Thr1611Ile)
c.4784C>T (p.Thr1595Ile)
c.4760C>T (p.Thr1587Ile)
c.4820C>T (p.Thr1607Ile)
17g.31265297_31265306delCA2580093354NF1c.595_604del (n.595_604del)
c.4775_4784del (p.Thr1592MetfsTer23)
n.899_908del
c.784_793del
n.1438_1447del
c.4823_4832del (p.Thr1608MetfsTer23)
c.4793_4802del (p.Thr1598MetfsTer23)
c.4730_4739del (p.Thr1577MetfsTer23)
c.3728_3737del (p.Thr1243MetfsTer23)
n.3266_3275del
c.4832_4841del (p.Thr1611MetfsTer19)
c.4784_4793del (p.Thr1595MetfsTer23)
c.4760_4769del (p.Thr1587MetfsTer23)
c.4823_4832del (p.Thr1608MetfsTer?)
c.4820_4829del (p.Thr1607MetfsTer23)
 ClinVar
17g.31265298T>ACA499234174NF1c.596T>A (n.596T>A)
c.4776T>A (p.Thr1592=)
n.900T>A
c.785T>A
n.1439T>A
c.4824T>A (p.Thr1608=)
c.4794T>A (p.Thr1598=)
c.4731T>A (p.Thr1577=)
c.3729T>A (p.Thr1243=)
n.3267T>A
c.4833T>A (p.Thr1611=)
c.4785T>A (p.Thr1595=)
c.4761T>A (p.Thr1587=)
c.4821T>A (p.Thr1607=)
 dbSNP
17g.31265298T>CCA499234175NF1c.596T>C (n.596T>C)
c.4776T>C (p.Thr1592=)
n.900T>C
c.785T>C
n.1439T>C
c.4824T>C (p.Thr1608=)
c.4794T>C (p.Thr1598=)
c.4731T>C (p.Thr1577=)
c.3729T>C (p.Thr1243=)
n.3267T>C
c.4833T>C (p.Thr1611=)
c.4785T>C (p.Thr1595=)
c.4761T>C (p.Thr1587=)
c.4821T>C (p.Thr1607=)
 dbSNP
17g.31265298T>GCA499234176NF1c.596T>G (n.596T>G)
c.4776T>G (p.Thr1592=)
n.900T>G
c.785T>G
n.1439T>G
c.4824T>G (p.Thr1608=)
c.4794T>G (p.Thr1598=)
c.4731T>G (p.Thr1577=)
c.3729T>G (p.Thr1243=)
n.3267T>G
c.4833T>G (p.Thr1611=)
c.4785T>G (p.Thr1595=)
c.4761T>G (p.Thr1587=)
c.4821T>G (p.Thr1607=)
17g.31265299T>ACA399001306NF1c.597T>A (n.597T>A)
c.4777T>A (p.Ser1593Thr)
n.901T>A
c.786T>A
n.1440T>A
c.4825T>A (p.Ser1609Thr)
c.4795T>A (p.Ser1599Thr)
c.4732T>A (p.Ser1578Thr)
c.3730T>A (p.Ser1244Thr)
n.3268T>A
c.4834T>A (p.Ser1612Thr)
c.4786T>A (p.Ser1596Thr)
c.4762T>A (p.Ser1588Thr)
c.4822T>A (p.Ser1608Thr)
17g.31265299T>CCA399001307NF1c.597T>C (n.597T>C)
c.4777T>C (p.Ser1593Pro)
n.901T>C
c.786T>C
n.1440T>C
c.4825T>C (p.Ser1609Pro)
c.4795T>C (p.Ser1599Pro)
c.4732T>C (p.Ser1578Pro)
c.3730T>C (p.Ser1244Pro)
n.3268T>C
c.4834T>C (p.Ser1612Pro)
c.4786T>C (p.Ser1596Pro)
c.4762T>C (p.Ser1588Pro)
c.4822T>C (p.Ser1608Pro)
 ClinVar
17g.31265299T>GCA399001308NF1c.597T>G (n.597T>G)
c.4777T>G (p.Ser1593Ala)
n.901T>G
c.786T>G
n.1440T>G
c.4825T>G (p.Ser1609Ala)
c.4795T>G (p.Ser1599Ala)
c.4732T>G (p.Ser1578Ala)
c.3730T>G (p.Ser1244Ala)
n.3268T>G
c.4834T>G (p.Ser1612Ala)
c.4786T>G (p.Ser1596Ala)
c.4762T>G (p.Ser1588Ala)
c.4822T>G (p.Ser1608Ala)
17g.31265300C>ACA399001310NF1c.598C>A (n.598C>A)
c.4778C>A (p.Ser1593Tyr)
n.902C>A
c.787C>A
n.1441C>A
c.4826C>A (p.Ser1609Tyr)
c.4796C>A (p.Ser1599Tyr)
c.4733C>A (p.Ser1578Tyr)
c.3731C>A (p.Ser1244Tyr)
n.3269C>A
c.4835C>A (p.Ser1612Tyr)
c.4787C>A (p.Ser1596Tyr)
c.4763C>A (p.Ser1588Tyr)
c.4823C>A (p.Ser1608Tyr)
 ClinVar dbSNP COSMIC COSMIC
17g.31265300C=CA2255578981NF1c.598C= (n.598C=)
c.4778C= (p.Ser1593=)
n.902C=
c.787C=
n.1441C=
c.4826C= (p.Ser1609=)
c.4796C= (p.Ser1599=)
c.4733C= (p.Ser1578=)
c.3731C= (p.Ser1244=)
n.3269C=
c.4835C= (p.Ser1612=)
c.4787C= (p.Ser1596=)
c.4763C= (p.Ser1588=)
c.4823C= (p.Ser1608=)
17g.31265300C>GCA399001311NF1c.598C>G (n.598C>G)
c.4778C>G (p.Ser1593Cys)
n.902C>G
c.787C>G
n.1441C>G
c.4826C>G (p.Ser1609Cys)
c.4796C>G (p.Ser1599Cys)
c.4733C>G (p.Ser1578Cys)
c.3731C>G (p.Ser1244Cys)
n.3269C>G
c.4835C>G (p.Ser1612Cys)
c.4787C>G (p.Ser1596Cys)
c.4763C>G (p.Ser1588Cys)
c.4823C>G (p.Ser1608Cys)
 ClinVar dbSNP
17g.31265300C>TCA399001309NF1c.598C>T (n.598C>T)
c.4778C>T (p.Ser1593Phe)
n.902C>T
c.787C>T
n.1441C>T
c.4826C>T (p.Ser1609Phe)
c.4796C>T (p.Ser1599Phe)
c.4733C>T (p.Ser1578Phe)
c.3731C>T (p.Ser1244Phe)
n.3269C>T
c.4835C>T (p.Ser1612Phe)
c.4787C>T (p.Ser1596Phe)
c.4763C>T (p.Ser1588Phe)
c.4823C>T (p.Ser1608Phe)
 ClinVar dbSNP COSMIC COSMIC
17g.31265301delCA658761110NF1c.599del (n.599del)
c.4779del (p.Ala1595LeufsTer23)
n.903del
c.788del
n.1442del
c.4827del (p.Ala1611LeufsTer23)
c.4797del (p.Ala1601LeufsTer23)
c.4734del (p.Ala1580LeufsTer23)
c.3732del (p.Ala1246LeufsTer23)
n.3270del
c.4836del (p.Ala1614LeufsTer19)
c.4788del (p.Ala1598LeufsTer23)
c.4764del (p.Ala1590LeufsTer23)
c.4827del (p.Ala1611LeufsTer?)
c.4824del (p.Ala1610LeufsTer23)
17g.31265300_31265301insGCA1139665378NF1c.598_599insG (n.598_599insG)
c.4778_4779insG (p.Lys1594GlnfsTer22)
n.902_903insG
c.787_788insG
n.1441_1442insG
c.4826_4827insG (p.Lys1610GlnfsTer22)
c.4796_4797insG (p.Lys1600GlnfsTer22)
c.4733_4734insG (p.Lys1579GlnfsTer22)
c.3731_3732insG (p.Lys1245GlnfsTer22)
n.3269_3270insG
c.4835_4836insG (p.Lys1613GlnfsTer?)
c.4787_4788insG (p.Lys1597GlnfsTer22)
c.4763_4764insG (p.Lys1589GlnfsTer22)
c.4826_4827insG (p.Lys1610GlnfsTer?)
c.4823_4824insG (p.Lys1609GlnfsTer22)
 ClinVar dbSNP
17g.31265301C>ACA499234177NF1c.599C>A (n.599C>A)
c.4779C>A (p.Ser1593=)
n.903C>A
c.788C>A
n.1442C>A
c.4827C>A (p.Ser1609=)
c.4797C>A (p.Ser1599=)
c.4734C>A (p.Ser1578=)
c.3732C>A (p.Ser1244=)
n.3270C>A
c.4836C>A (p.Ser1612=)
c.4788C>A (p.Ser1596=)
c.4764C>A (p.Ser1588=)
c.4824C>A (p.Ser1608=)
 dbSNP
17g.31265301C>GCA499234178NF1c.599C>G (n.599C>G)
c.4779C>G (p.Ser1593=)
n.903C>G
c.788C>G
n.1442C>G
c.4827C>G (p.Ser1609=)
c.4797C>G (p.Ser1599=)
c.4734C>G (p.Ser1578=)
c.3732C>G (p.Ser1244=)
n.3270C>G
c.4836C>G (p.Ser1612=)
c.4788C>G (p.Ser1596=)
c.4764C>G (p.Ser1588=)
c.4824C>G (p.Ser1608=)
 dbSNP
17g.31265301C>TCA499234179NF1c.599C>T (n.599C>T)
c.4779C>T (p.Ser1593=)
n.903C>T
c.788C>T
n.1442C>T
c.4827C>T (p.Ser1609=)
c.4797C>T (p.Ser1599=)
c.4734C>T (p.Ser1578=)
c.3732C>T (p.Ser1244=)
n.3270C>T
c.4836C>T (p.Ser1612=)
c.4788C>T (p.Ser1596=)
c.4764C>T (p.Ser1588=)
c.4824C>T (p.Ser1608=)
17g.31265302A=CA2255578982NF1c.600A= (n.600A=)
c.4780A= (p.Lys1594=)
n.904A=
c.789A=
n.1443A=
c.4828A= (p.Lys1610=)
c.4798A= (p.Lys1600=)
c.4735A= (p.Lys1579=)
c.3733A= (p.Lys1245=)
n.3271A=
c.4837A= (p.Lys1613=)
c.4789A= (p.Lys1597=)
c.4765A= (p.Lys1589=)
c.4825A= (p.Lys1609=)
17g.31265302A>CCA399001312NF1c.600A>C (n.600A>C)
c.4780A>C (p.Lys1594Gln)
n.904A>C
c.789A>C
n.1443A>C
c.4828A>C (p.Lys1610Gln)
c.4798A>C (p.Lys1600Gln)
c.4735A>C (p.Lys1579Gln)
c.3733A>C (p.Lys1245Gln)
n.3271A>C
c.4837A>C (p.Lys1613Gln)
c.4789A>C (p.Lys1597Gln)
c.4765A>C (p.Lys1589Gln)
c.4825A>C (p.Lys1609Gln)
17g.31265302A>GCA399001313NF1c.600A>G (n.600A>G)
c.4780A>G (p.Lys1594Glu)
n.904A>G
c.789A>G
n.1443A>G
c.4828A>G (p.Lys1610Glu)
c.4798A>G (p.Lys1600Glu)
c.4735A>G (p.Lys1579Glu)
c.3733A>G (p.Lys1245Glu)
n.3271A>G
c.4837A>G (p.Lys1613Glu)
c.4789A>G (p.Lys1597Glu)
c.4765A>G (p.Lys1589Glu)
c.4825A>G (p.Lys1609Glu)
17g.31265302A>TCA399001314NF1c.600A>T (n.600A>T)
c.4780A>T (p.Lys1594Ter)
n.904A>T
c.789A>T
n.1443A>T
c.4828A>T (p.Lys1610Ter)
c.4798A>T (p.Lys1600Ter)
c.4735A>T (p.Lys1579Ter)
c.3733A>T (p.Lys1245Ter)
n.3271A>T
c.4837A>T (p.Lys1613Ter)
c.4789A>T (p.Lys1597Ter)
c.4765A>T (p.Lys1589Ter)
c.4825A>T (p.Lys1609Ter)
 ClinVar dbSNP
17g.31265303A>CCA399001315NF1c.601A>C (n.601A>C)
c.4781A>C (p.Lys1594Thr)
n.905A>C
c.790A>C
n.1444A>C
c.4829A>C (p.Lys1610Thr)
c.4799A>C (p.Lys1600Thr)
c.4736A>C (p.Lys1579Thr)
c.3734A>C (p.Lys1245Thr)
n.3272A>C
c.4838A>C (p.Lys1613Thr)
c.4790A>C (p.Lys1597Thr)
c.4766A>C (p.Lys1589Thr)
c.4826A>C (p.Lys1609Thr)
17g.31265303A>GCA399001316NF1c.601A>G (n.601A>G)
c.4781A>G (p.Lys1594Arg)
n.905A>G
c.790A>G
n.1444A>G
c.4829A>G (p.Lys1610Arg)
c.4799A>G (p.Lys1600Arg)
c.4736A>G (p.Lys1579Arg)
c.3734A>G (p.Lys1245Arg)
n.3272A>G
c.4838A>G (p.Lys1613Arg)
c.4790A>G (p.Lys1597Arg)
c.4766A>G (p.Lys1589Arg)
c.4826A>G (p.Lys1609Arg)
 gnomAD v4
17g.31265303A>TCA399001317NF1c.601A>T (n.601A>T)
c.4781A>T (p.Lys1594Ile)
n.905A>T
c.790A>T
n.1444A>T
c.4829A>T (p.Lys1610Ile)
c.4799A>T (p.Lys1600Ile)
c.4736A>T (p.Lys1579Ile)
c.3734A>T (p.Lys1245Ile)
n.3272A>T
c.4838A>T (p.Lys1613Ile)
c.4790A>T (p.Lys1597Ile)
c.4766A>T (p.Lys1589Ile)
c.4826A>T (p.Lys1609Ile)
 dbSNP
17g.31265304A=CA2255578983NF1c.602A= (n.602A=)
c.4782A= (p.Lys1594=)
n.906A=
c.791A=
n.1445A=
c.4830A= (p.Lys1610=)
c.4800A= (p.Lys1600=)
c.4737A= (p.Lys1579=)
c.3735A= (p.Lys1245=)
n.3273A=
c.4839A= (p.Lys1613=)
c.4791A= (p.Lys1597=)
c.4767A= (p.Lys1589=)
c.4827A= (p.Lys1609=)
17g.31265304A>CCA399001319NF1c.602A>C (n.602A>C)
c.4782A>C (p.Lys1594Asn)
n.906A>C
c.791A>C
n.1445A>C
c.4830A>C (p.Lys1610Asn)
c.4800A>C (p.Lys1600Asn)
c.4737A>C (p.Lys1579Asn)
c.3735A>C (p.Lys1245Asn)
n.3273A>C
c.4839A>C (p.Lys1613Asn)
c.4791A>C (p.Lys1597Asn)
c.4767A>C (p.Lys1589Asn)
c.4827A>C (p.Lys1609Asn)
17g.31265304A>GCA499234180NF1c.602A>G (n.602A>G)
c.4782A>G (p.Lys1594=)
n.906A>G
c.791A>G
n.1445A>G
c.4830A>G (p.Lys1610=)
c.4800A>G (p.Lys1600=)
c.4737A>G (p.Lys1579=)
c.3735A>G (p.Lys1245=)
n.3273A>G
c.4839A>G (p.Lys1613=)
c.4791A>G (p.Lys1597=)
c.4767A>G (p.Lys1589=)
c.4827A>G (p.Lys1609=)
 ClinVar dbSNP gnomAD v4
17g.31265304A>TCA399001318NF1c.602A>T (n.602A>T)
c.4782A>T (p.Lys1594Asn)
n.906A>T
c.791A>T
n.1445A>T
c.4830A>T (p.Lys1610Asn)
c.4800A>T (p.Lys1600Asn)
c.4737A>T (p.Lys1579Asn)
c.3735A>T (p.Lys1245Asn)
n.3273A>T
c.4839A>T (p.Lys1613Asn)
c.4791A>T (p.Lys1597Asn)
c.4767A>T (p.Lys1589Asn)
c.4827A>T (p.Lys1609Asn)
17g.31265305G>ACA8486476NF1c.603G>A (n.603G>A)
c.4783G>A (p.Ala1595Thr)
n.907G>A
c.792G>A
n.1446G>A
c.4831G>A (p.Ala1611Thr)
c.4801G>A (p.Ala1601Thr)
c.4738G>A (p.Ala1580Thr)
c.3736G>A (p.Ala1246Thr)
n.3274G>A
c.4840G>A (p.Ala1614Thr)
c.4792G>A (p.Ala1598Thr)
c.4768G>A (p.Ala1590Thr)
c.4828G>A (p.Ala1610Thr)
 ClinVar dbSNP ExAC gnomAD v4
17g.31265305G>CCA399001320NF1c.603G>C (n.603G>C)
c.4783G>C (p.Ala1595Pro)
n.907G>C
c.792G>C
n.1446G>C
c.4831G>C (p.Ala1611Pro)
c.4801G>C (p.Ala1601Pro)
c.4738G>C (p.Ala1580Pro)
c.3736G>C (p.Ala1246Pro)
n.3274G>C
c.4840G>C (p.Ala1614Pro)
c.4792G>C (p.Ala1598Pro)
c.4768G>C (p.Ala1590Pro)
c.4828G>C (p.Ala1610Pro)
 ClinVar dbSNP
17g.31265305G=CA2255578984NF1c.603G= (n.603G=)
c.4783G= (p.Ala1595=)
n.907G=
c.792G=
n.1446G=
c.4831G= (p.Ala1611=)
c.4801G= (p.Ala1601=)
c.4738G= (p.Ala1580=)
c.3736G= (p.Ala1246=)
n.3274G=
c.4840G= (p.Ala1614=)
c.4792G= (p.Ala1598=)
c.4768G= (p.Ala1590=)
c.4828G= (p.Ala1610=)
17g.31265305G>TCA399001321NF1c.603G>T (n.603G>T)
c.4783G>T (p.Ala1595Ser)
n.907G>T
c.792G>T
n.1446G>T
c.4831G>T (p.Ala1611Ser)
c.4801G>T (p.Ala1601Ser)
c.4738G>T (p.Ala1580Ser)
c.3736G>T (p.Ala1246Ser)
n.3274G>T
c.4840G>T (p.Ala1614Ser)
c.4792G>T (p.Ala1598Ser)
c.4768G>T (p.Ala1590Ser)
c.4828G>T (p.Ala1610Ser)
17g.31265305_31265306insACA2739267416NF1c.603_604insA (n.603_604insA)
c.4783_4784insA (p.Ala1595AspfsTer21)
n.907_908insA
c.792_793insA
n.1446_1447insA
c.4831_4832insA (p.Ala1611AspfsTer21)
c.4801_4802insA (p.Ala1601AspfsTer21)
c.4738_4739insA (p.Ala1580AspfsTer21)
c.3736_3737insA (p.Ala1246AspfsTer21)
n.3274_3275insA
c.4840_4841insA (p.Ala1614AspfsTer30)
c.4792_4793insA (p.Ala1598AspfsTer21)
c.4768_4769insA (p.Ala1590AspfsTer21)
c.4831_4832insA (p.Ala1611AspfsTer?)
c.4828_4829insA (p.Ala1610AspfsTer21)
 ClinVar
17g.31265306C>ACA399001322NF1c.604C>A (n.604C>A)
c.4784C>A (p.Ala1595Asp)
n.908C>A
c.793C>A
n.1447C>A
c.4832C>A (p.Ala1611Asp)
c.4802C>A (p.Ala1601Asp)
c.4739C>A (p.Ala1580Asp)
c.3737C>A (p.Ala1246Asp)
n.3275C>A
c.4841C>A (p.Ala1614Asp)
c.4793C>A (p.Ala1598Asp)
c.4769C>A (p.Ala1590Asp)
c.4829C>A (p.Ala1610Asp)
 ClinVar dbSNP
17g.31265306C>GCA399001323NF1c.604C>G (n.604C>G)
c.4784C>G (p.Ala1595Gly)
n.908C>G
c.793C>G
n.1447C>G
c.4832C>G (p.Ala1611Gly)
c.4802C>G (p.Ala1601Gly)
c.4739C>G (p.Ala1580Gly)
c.3737C>G (p.Ala1246Gly)
n.3275C>G
c.4841C>G (p.Ala1614Gly)
c.4793C>G (p.Ala1598Gly)
c.4769C>G (p.Ala1590Gly)
c.4829C>G (p.Ala1610Gly)
 dbSNP
17g.31265306C>TCA399001324NF1c.604C>T (n.604C>T)
c.4784C>T (p.Ala1595Val)
n.908C>T
c.793C>T
n.1447C>T
c.4832C>T (p.Ala1611Val)
c.4802C>T (p.Ala1601Val)
c.4739C>T (p.Ala1580Val)
c.3737C>T (p.Ala1246Val)
n.3275C>T
c.4841C>T (p.Ala1614Val)
c.4793C>T (p.Ala1598Val)
c.4769C>T (p.Ala1590Val)
c.4829C>T (p.Ala1610Val)
17g.31265307T>ACA499234181NF1c.605T>A (n.605T>A)
c.4785T>A (p.Ala1595=)
n.909T>A
c.794T>A
n.1448T>A
c.4833T>A (p.Ala1611=)
c.4803T>A (p.Ala1601=)
c.4740T>A (p.Ala1580=)
c.3738T>A (p.Ala1246=)
n.3276T>A
c.4842T>A (p.Ala1614=)
c.4794T>A (p.Ala1598=)
c.4770T>A (p.Ala1590=)
c.4830T>A (p.Ala1610=)
17g.31265307T>CCA192424NF1c.605T>C (n.605T>C)
c.4785T>C (p.Ala1595=)
n.909T>C
c.794T>C
n.1448T>C
c.4833T>C (p.Ala1611=)
c.4803T>C (p.Ala1601=)
c.4740T>C (p.Ala1580=)
c.3738T>C (p.Ala1246=)
n.3276T>C
c.4842T>C (p.Ala1614=)
c.4794T>C (p.Ala1598=)
c.4770T>C (p.Ala1590=)
c.4830T>C (p.Ala1610=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.31265307T>GCA499234182NF1c.605T>G (n.605T>G)
c.4785T>G (p.Ala1595=)
n.909T>G
c.794T>G
n.1448T>G
c.4833T>G (p.Ala1611=)
c.4803T>G (p.Ala1601=)
c.4740T>G (p.Ala1580=)
c.3738T>G (p.Ala1246=)
n.3276T>G
c.4842T>G (p.Ala1614=)
c.4794T>G (p.Ala1598=)
c.4770T>G (p.Ala1590=)
c.4830T>G (p.Ala1610=)
 ClinVar dbSNP
17g.31265307T=CA2255578985NF1c.605T= (n.605T=)
c.4785T= (p.Ala1595=)
n.909T=
c.794T=
n.1448T=
c.4833T= (p.Ala1611=)
c.4803T= (p.Ala1601=)
c.4740T= (p.Ala1580=)
c.3738T= (p.Ala1246=)
n.3276T=
c.4842T= (p.Ala1614=)
c.4794T= (p.Ala1598=)
c.4770T= (p.Ala1590=)
c.4830T= (p.Ala1610=)
17g.31265308G>ACA10583507NF1c.606G>A (n.606G>A)
c.4786G>A (p.Gly1596Arg)
n.910G>A
c.795G>A
n.1449G>A
c.4834G>A (p.Gly1612Arg)
c.4804G>A (p.Gly1602Arg)
c.4741G>A (p.Gly1581Arg)
c.3739G>A (p.Gly1247Arg)
n.3277G>A
c.4843G>A (p.Gly1615Arg)
c.4795G>A (p.Gly1599Arg)
c.4771G>A (p.Gly1591Arg)
c.4831G>A (p.Gly1611Arg)
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC
17g.31265308G>CCA399001326NF1c.606G>C (n.606G>C)
c.4786G>C (p.Gly1596Arg)
n.910G>C
c.795G>C
n.1449G>C
c.4834G>C (p.Gly1612Arg)
c.4804G>C (p.Gly1602Arg)
c.4741G>C (p.Gly1581Arg)
c.3739G>C (p.Gly1247Arg)
n.3277G>C
c.4843G>C (p.Gly1615Arg)
c.4795G>C (p.Gly1599Arg)
c.4771G>C (p.Gly1591Arg)
c.4831G>C (p.Gly1611Arg)
 dbSNP
17g.31265308G=CA2255578986NF1c.606G= (n.606G=)
c.4786G= (p.Gly1596=)
n.910G=
c.795G=
n.1449G=
c.4834G= (p.Gly1612=)
c.4804G= (p.Gly1602=)
c.4741G= (p.Gly1581=)
c.3739G= (p.Gly1247=)
n.3277G=
c.4843G= (p.Gly1615=)
c.4795G= (p.Gly1599=)
c.4771G= (p.Gly1591=)
c.4831G= (p.Gly1611=)
17g.31265308G>TCA399001325NF1c.606G>T (n.606G>T)
c.4786G>T (p.Gly1596Trp)
n.910G>T
c.795G>T
n.1449G>T
c.4834G>T (p.Gly1612Trp)
c.4804G>T (p.Gly1602Trp)
c.4741G>T (p.Gly1581Trp)
c.3739G>T (p.Gly1247Trp)
n.3277G>T
c.4843G>T (p.Gly1615Trp)
c.4795G>T (p.Gly1599Trp)
c.4771G>T (p.Gly1591Trp)
c.4831G>T (p.Gly1611Trp)
17g.31265310dupCA499234183NF1c.608dup (n.608dup)
c.4788dup (p.Asn1597GlufsTer19)
n.912dup
c.797dup
n.1451dup
c.4836dup (p.Asn1613GlufsTer19)
c.4806dup (p.Asn1603GlufsTer19)
c.4743dup (p.Asn1582GlufsTer19)
c.3741dup (p.Asn1248GlufsTer19)
n.3279dup
c.4845dup (p.Asn1616GlufsTer28)
c.4797dup (p.Asn1600GlufsTer19)
c.4773dup (p.Asn1592GlufsTer19)
c.4836dup (p.Asn1613GlufsTer?)
c.4833dup (p.Asn1612GlufsTer19)
 COSMIC
17g.31265310delCA499234184NF1c.608del (n.608del)
c.4788del (p.Asn1597IlefsTer21)
n.912del
c.797del
n.1451del
c.4836del (p.Asn1613IlefsTer21)
c.4806del (p.Asn1603IlefsTer21)
c.4743del (p.Asn1582IlefsTer21)
c.3741del (p.Asn1248IlefsTer21)
n.3279del
c.4845del (p.Asn1616IlefsTer17)
c.4797del (p.Asn1600IlefsTer21)
c.4773del (p.Asn1592IlefsTer21)
c.4836del (p.Asn1613IlefsTer?)
c.4833del (p.Asn1612IlefsTer21)
 COSMIC
17g.31265309G>ACA399001328NF1c.607G>A (n.607G>A)
c.4787G>A (p.Gly1596Glu)
n.911G>A
c.796G>A
n.1450G>A
c.4835G>A (p.Gly1612Glu)
c.4805G>A (p.Gly1602Glu)
c.4742G>A (p.Gly1581Glu)
c.3740G>A (p.Gly1247Glu)
n.3278G>A
c.4844G>A (p.Gly1615Glu)
c.4796G>A (p.Gly1599Glu)
c.4772G>A (p.Gly1591Glu)
c.4832G>A (p.Gly1611Glu)
 ClinVar dbSNP
17g.31265309G>CCA399001327NF1c.607G>C (n.607G>C)
c.4787G>C (p.Gly1596Ala)
n.911G>C
c.796G>C
n.1450G>C
c.4835G>C (p.Gly1612Ala)
c.4805G>C (p.Gly1602Ala)
c.4742G>C (p.Gly1581Ala)
c.3740G>C (p.Gly1247Ala)
n.3278G>C
c.4844G>C (p.Gly1615Ala)
c.4796G>C (p.Gly1599Ala)
c.4772G>C (p.Gly1591Ala)
c.4832G>C (p.Gly1611Ala)
 dbSNP
17g.31265309G>TCA399001329NF1c.607G>T (n.607G>T)
c.4787G>T (p.Gly1596Val)
n.911G>T
c.796G>T
n.1450G>T
c.4835G>T (p.Gly1612Val)
c.4805G>T (p.Gly1602Val)
c.4742G>T (p.Gly1581Val)
c.3740G>T (p.Gly1247Val)
n.3278G>T
c.4844G>T (p.Gly1615Val)
c.4796G>T (p.Gly1599Val)
c.4772G>T (p.Gly1591Val)
c.4832G>T (p.Gly1611Val)
 dbSNP
17g.31265312_31265338delCA2695225426NF1c.610_636del (n.610_636del)
c.4790_4816del (p.Asn1597_Arg1605del)
n.914_940del
c.799_825del
n.1453_1479del
c.4838_4864del (p.Asn1613_Arg1621del)
c.4808_4834del (p.Asn1603_Arg1611del)
c.4745_4771del (p.Asn1582_Arg1590del)
c.3743_3769del (p.Asn1248_Arg1256del)
n.3281_3307del
c.4847_4873del (p.Asn1616_Arg1624del)
c.4799_4825del (p.Asn1600_Arg1608del)
c.4775_4801del (p.Asn1592_Arg1600del)
c.4835_4861del (p.Asn1612_Arg1620del)
17g.31265310G>ACA499234185NF1c.608G>A (n.608G>A)
c.4788G>A (p.Gly1596=)
n.912G>A
c.797G>A
n.1451G>A
c.4836G>A (p.Gly1612=)
c.4806G>A (p.Gly1602=)
c.4743G>A (p.Gly1581=)
c.3741G>A (p.Gly1247=)
n.3279G>A
c.4845G>A (p.Gly1615=)
c.4797G>A (p.Gly1599=)
c.4773G>A (p.Gly1591=)
c.4833G>A (p.Gly1611=)
 dbSNP
17g.31265310G>CCA499234186NF1c.608G>C (n.608G>C)
c.4788G>C (p.Gly1596=)
n.912G>C
c.797G>C
n.1451G>C
c.4836G>C (p.Gly1612=)
c.4806G>C (p.Gly1602=)
c.4743G>C (p.Gly1581=)
c.3741G>C (p.Gly1247=)
n.3279G>C
c.4845G>C (p.Gly1615=)
c.4797G>C (p.Gly1599=)
c.4773G>C (p.Gly1591=)
c.4833G>C (p.Gly1611=)
 dbSNP
17g.31265310G=CA2255578987NF1c.608G= (n.608G=)
c.4788G= (p.Gly1596=)
n.912G=
c.797G=
n.1451G=
c.4836G= (p.Gly1612=)
c.4806G= (p.Gly1602=)
c.4743G= (p.Gly1581=)
c.3741G= (p.Gly1247=)
n.3279G=
c.4845G= (p.Gly1615=)
c.4797G= (p.Gly1599=)
c.4773G= (p.Gly1591=)
c.4833G= (p.Gly1611=)
17g.31265310G>TCA499234188NF1c.608G>T (n.608G>T)
c.4788G>T (p.Gly1596=)
n.912G>T
c.797G>T
n.1451G>T
c.4836G>T (p.Gly1612=)
c.4806G>T (p.Gly1602=)
c.4743G>T (p.Gly1581=)
c.3741G>T (p.Gly1247=)
n.3279G>T
c.4845G>T (p.Gly1615=)
c.4797G>T (p.Gly1599=)
c.4773G>T (p.Gly1591=)
c.4833G>T (p.Gly1611=)
 dbSNP gnomAD v2
17g.31265311A>CCA399001330NF1c.609A>C (n.609A>C)
c.4789A>C (p.Asn1597His)
n.913A>C
c.798A>C
n.1452A>C
c.4837A>C (p.Asn1613His)
c.4807A>C (p.Asn1603His)
c.4744A>C (p.Asn1582His)
c.3742A>C (p.Asn1248His)
n.3280A>C
c.4846A>C (p.Asn1616His)
c.4798A>C (p.Asn1600His)
c.4774A>C (p.Asn1592His)
c.4834A>C (p.Asn1612His)
17g.31265311A>GCA399001331NF1c.609A>G (n.609A>G)
c.4789A>G (p.Asn1597Asp)
n.913A>G
c.798A>G
n.1452A>G
c.4837A>G (p.Asn1613Asp)
c.4807A>G (p.Asn1603Asp)
c.4744A>G (p.Asn1582Asp)
c.3742A>G (p.Asn1248Asp)
n.3280A>G
c.4846A>G (p.Asn1616Asp)
c.4798A>G (p.Asn1600Asp)
c.4774A>G (p.Asn1592Asp)
c.4834A>G (p.Asn1612Asp)
17g.31265311A>TCA399001332NF1c.609A>T (n.609A>T)
c.4789A>T (p.Asn1597Tyr)
n.913A>T
c.798A>T
n.1452A>T
c.4837A>T (p.Asn1613Tyr)
c.4807A>T (p.Asn1603Tyr)
c.4744A>T (p.Asn1582Tyr)
c.3742A>T (p.Asn1248Tyr)
n.3280A>T
c.4846A>T (p.Asn1616Tyr)
c.4798A>T (p.Asn1600Tyr)
c.4774A>T (p.Asn1592Tyr)
c.4834A>T (p.Asn1612Tyr)
 dbSNP
17g.31265312delCA2695225427NF1c.610del (n.610del)
c.4790del (p.Asn1597IlefsTer21)
n.914del
c.799del
n.1453del
c.4838del (p.Asn1613IlefsTer21)
c.4808del (p.Asn1603IlefsTer21)
c.4745del (p.Asn1582IlefsTer21)
c.3743del (p.Asn1248IlefsTer21)
n.3281del
c.4847del (p.Asn1616IlefsTer17)
c.4799del (p.Asn1600IlefsTer21)
c.4775del (p.Asn1592IlefsTer21)
c.4838del (p.Asn1613IlefsTer?)
c.4835del (p.Asn1612IlefsTer21)
17g.31265312A=CA2255578988NF1c.610A= (n.610A=)
c.4790A= (p.Asn1597=)
n.914A=
c.799A=
n.1453A=
c.4838A= (p.Asn1613=)
c.4808A= (p.Asn1603=)
c.4745A= (p.Asn1582=)
c.3743A= (p.Asn1248=)
n.3281A=
c.4847A= (p.Asn1616=)
c.4799A= (p.Asn1600=)
c.4775A= (p.Asn1592=)
c.4835A= (p.Asn1612=)
17g.31265312A>CCA399001333NF1c.610A>C (n.610A>C)
c.4790A>C (p.Asn1597Thr)
n.914A>C
c.799A>C
n.1453A>C
c.4838A>C (p.Asn1613Thr)
c.4808A>C (p.Asn1603Thr)
c.4745A>C (p.Asn1582Thr)
c.3743A>C (p.Asn1248Thr)
n.3281A>C
c.4847A>C (p.Asn1616Thr)
c.4799A>C (p.Asn1600Thr)
c.4775A>C (p.Asn1592Thr)
c.4835A>C (p.Asn1612Thr)
17g.31265312A>GCA399001334NF1c.610A>G (n.610A>G)
c.4790A>G (p.Asn1597Ser)
n.914A>G
c.799A>G
n.1453A>G
c.4838A>G (p.Asn1613Ser)
c.4808A>G (p.Asn1603Ser)
c.4745A>G (p.Asn1582Ser)
c.3743A>G (p.Asn1248Ser)
n.3281A>G
c.4847A>G (p.Asn1616Ser)
c.4799A>G (p.Asn1600Ser)
c.4775A>G (p.Asn1592Ser)
c.4835A>G (p.Asn1612Ser)
 ClinVar dbSNP
17g.31265312A>TCA399001335NF1c.610A>T (n.610A>T)
c.4790A>T (p.Asn1597Ile)
n.914A>T
c.799A>T
n.1453A>T
c.4838A>T (p.Asn1613Ile)
c.4808A>T (p.Asn1603Ile)
c.4745A>T (p.Asn1582Ile)
c.3743A>T (p.Asn1248Ile)
n.3281A>T
c.4847A>T (p.Asn1616Ile)
c.4799A>T (p.Asn1600Ile)
c.4775A>T (p.Asn1592Ile)
c.4835A>T (p.Asn1612Ile)
 ClinVar
17g.31265313T>ACA399001336NF1c.611T>A (n.611T>A)
c.4791T>A (p.Asn1597Lys)
n.915T>A
c.800T>A
n.1454T>A
c.4839T>A (p.Asn1613Lys)
c.4809T>A (p.Asn1603Lys)
c.4746T>A (p.Asn1582Lys)
c.3744T>A (p.Asn1248Lys)
n.3282T>A
c.4848T>A (p.Asn1616Lys)
c.4800T>A (p.Asn1600Lys)
c.4776T>A (p.Asn1592Lys)
c.4836T>A (p.Asn1612Lys)
17g.31265313T>CCA499234189NF1c.611T>C (n.611T>C)
c.4791T>C (p.Asn1597=)
n.915T>C
c.800T>C
n.1454T>C
c.4839T>C (p.Asn1613=)
c.4809T>C (p.Asn1603=)
c.4746T>C (p.Asn1582=)
c.3744T>C (p.Asn1248=)
n.3282T>C
c.4848T>C (p.Asn1616=)
c.4800T>C (p.Asn1600=)
c.4776T>C (p.Asn1592=)
c.4836T>C (p.Asn1612=)
 ClinVar dbSNP gnomAD v4
17g.31265313T>GCA399001337NF1c.611T>G (n.611T>G)
c.4791T>G (p.Asn1597Lys)
n.915T>G
c.800T>G
n.1454T>G
c.4839T>G (p.Asn1613Lys)
c.4809T>G (p.Asn1603Lys)
c.4746T>G (p.Asn1582Lys)
c.3744T>G (p.Asn1248Lys)
n.3282T>G
c.4848T>G (p.Asn1616Lys)
c.4800T>G (p.Asn1600Lys)
c.4776T>G (p.Asn1592Lys)
c.4836T>G (p.Asn1612Lys)
17g.31265313T=CA2255578989NF1c.611T= (n.611T=)
c.4791T= (p.Asn1597=)
n.915T=
c.800T=
n.1454T=
c.4839T= (p.Asn1613=)
c.4809T= (p.Asn1603=)
c.4746T= (p.Asn1582=)
c.3744T= (p.Asn1248=)
n.3282T=
c.4848T= (p.Asn1616=)
c.4800T= (p.Asn1600=)
c.4776T= (p.Asn1592=)
c.4836T= (p.Asn1612=)
17g.31265314C>ACA399001338NF1c.612C>A (n.612C>A)
c.4792C>A (p.Pro1598Thr)
n.916C>A
c.801C>A
n.1455C>A
c.4840C>A (p.Pro1614Thr)
c.4810C>A (p.Pro1604Thr)
c.4747C>A (p.Pro1583Thr)
c.3745C>A (p.Pro1249Thr)
n.3283C>A
c.4849C>A (p.Pro1617Thr)
c.4801C>A (p.Pro1601Thr)
c.4777C>A (p.Pro1593Thr)
c.4837C>A (p.Pro1613Thr)
17g.31265314C>GCA399001339NF1c.612C>G (n.612C>G)
c.4792C>G (p.Pro1598Ala)
n.916C>G
c.801C>G
n.1455C>G
c.4840C>G (p.Pro1614Ala)
c.4810C>G (p.Pro1604Ala)
c.4747C>G (p.Pro1583Ala)
c.3745C>G (p.Pro1249Ala)
n.3283C>G
c.4849C>G (p.Pro1617Ala)
c.4801C>G (p.Pro1601Ala)
c.4777C>G (p.Pro1593Ala)
c.4837C>G (p.Pro1613Ala)
 dbSNP
17g.31265314C>TCA399001340NF1c.612C>T (n.612C>T)
c.4792C>T (p.Pro1598Ser)
n.916C>T
c.801C>T
n.1455C>T
c.4840C>T (p.Pro1614Ser)
c.4810C>T (p.Pro1604Ser)
c.4747C>T (p.Pro1583Ser)
c.3745C>T (p.Pro1249Ser)
n.3283C>T
c.4849C>T (p.Pro1617Ser)
c.4801C>T (p.Pro1601Ser)
c.4777C>T (p.Pro1593Ser)
c.4837C>T (p.Pro1613Ser)
 dbSNP COSMIC COSMIC
17g.31265315C>ACA399001343NF1c.613C>A (n.613C>A)
c.4793C>A (p.Pro1598His)
n.917C>A
c.802C>A
n.1456C>A
c.4841C>A (p.Pro1614His)
c.4811C>A (p.Pro1604His)
c.4748C>A (p.Pro1583His)
c.3746C>A (p.Pro1249His)
n.3284C>A
c.4850C>A (p.Pro1617His)
c.4802C>A (p.Pro1601His)
c.4778C>A (p.Pro1593His)
c.4838C>A (p.Pro1613His)
 dbSNP
17g.31265315C=CA2255578990NF1c.613C= (n.613C=)
c.4793C= (p.Pro1598=)
n.917C=
c.802C=
n.1456C=
c.4841C= (p.Pro1614=)
c.4811C= (p.Pro1604=)
c.4748C= (p.Pro1583=)
c.3746C= (p.Pro1249=)
n.3284C=
c.4850C= (p.Pro1617=)
c.4802C= (p.Pro1601=)
c.4778C= (p.Pro1593=)
c.4838C= (p.Pro1613=)
17g.31265315C>GCA399001342NF1c.613C>G (n.613C>G)
c.4793C>G (p.Pro1598Arg)
n.917C>G
c.802C>G
n.1456C>G
c.4841C>G (p.Pro1614Arg)
c.4811C>G (p.Pro1604Arg)
c.4748C>G (p.Pro1583Arg)
c.3746C>G (p.Pro1249Arg)
n.3284C>G
c.4850C>G (p.Pro1617Arg)
c.4802C>G (p.Pro1601Arg)
c.4778C>G (p.Pro1593Arg)
c.4838C>G (p.Pro1613Arg)
 ClinVar dbSNP
17g.31265315C>TCA399001341NF1c.613C>T (n.613C>T)
c.4793C>T (p.Pro1598Leu)
n.917C>T
c.802C>T
n.1456C>T
c.4841C>T (p.Pro1614Leu)
c.4811C>T (p.Pro1604Leu)
c.4748C>T (p.Pro1583Leu)
c.3746C>T (p.Pro1249Leu)
n.3284C>T
c.4850C>T (p.Pro1617Leu)
c.4802C>T (p.Pro1601Leu)
c.4778C>T (p.Pro1593Leu)
c.4838C>T (p.Pro1613Leu)
 ClinVar dbSNP
17g.31265316T>ACA499234191NF1c.614T>A (n.614T>A)
c.4794T>A (p.Pro1598=)
n.918T>A
c.803T>A
n.1457T>A
c.4842T>A (p.Pro1614=)
c.4812T>A (p.Pro1604=)
c.4749T>A (p.Pro1583=)
c.3747T>A (p.Pro1249=)
n.3285T>A
c.4851T>A (p.Pro1617=)
c.4803T>A (p.Pro1601=)
c.4779T>A (p.Pro1593=)
c.4839T>A (p.Pro1613=)
17g.31265316T>CCA499234193NF1c.614T>C (n.614T>C)
c.4794T>C (p.Pro1598=)
n.918T>C
c.803T>C
n.1457T>C
c.4842T>C (p.Pro1614=)
c.4812T>C (p.Pro1604=)
c.4749T>C (p.Pro1583=)
c.3747T>C (p.Pro1249=)
n.3285T>C
c.4851T>C (p.Pro1617=)
c.4803T>C (p.Pro1601=)
c.4779T>C (p.Pro1593=)
c.4839T>C (p.Pro1613=)
 dbSNP
17g.31265316T>GCA499234192NF1c.614T>G (n.614T>G)
c.4794T>G (p.Pro1598=)
n.918T>G
c.803T>G
n.1457T>G
c.4842T>G (p.Pro1614=)
c.4812T>G (p.Pro1604=)
c.4749T>G (p.Pro1583=)
c.3747T>G (p.Pro1249=)
n.3285T>G
c.4851T>G (p.Pro1617=)
c.4803T>G (p.Pro1601=)
c.4779T>G (p.Pro1593=)
c.4839T>G (p.Pro1613=)
17g.31265316dupCA645582470NF1c.614dup (n.614dup)
c.4794dup (p.Ile1599TyrfsTer17)
n.918dup
c.803dup
n.1457dup
c.4842dup (p.Ile1615TyrfsTer17)
c.4812dup (p.Ile1605TyrfsTer17)
c.4749dup (p.Ile1584TyrfsTer17)
c.3747dup (p.Ile1250TyrfsTer17)
n.3285dup
c.4851dup (p.Ile1618TyrfsTer26)
c.4803dup (p.Ile1602TyrfsTer17)
c.4779dup (p.Ile1594TyrfsTer17)
c.4842dup (p.Ile1615TyrfsTer?)
c.4839dup (p.Ile1614TyrfsTer17)
 COSMIC
17g.31265316_31265318delinsACA2697559540NF1c.614_616delinsA (n.614_616delinsA)
c.4794_4796delinsA (p.Ile1599PhefsTer16)
n.918_920delinsA
c.803_805delinsA
n.1457_1459delinsA
c.4842_4844delinsA (p.Ile1615PhefsTer16)
c.4812_4814delinsA (p.Ile1605PhefsTer16)
c.4749_4751delinsA (p.Ile1584PhefsTer16)
c.3747_3749delinsA (p.Ile1250PhefsTer16)
n.3285_3287delinsA
c.4851_4853delinsA (p.Ile1618PhefsTer25)
c.4803_4805delinsA (p.Ile1602PhefsTer16)
c.4779_4781delinsA (p.Ile1594PhefsTer16)
c.4842_4844delinsA (p.Ile1615PhefsTer?)
c.4839_4841delinsA (p.Ile1614PhefsTer16)
 ClinVar
17g.31265317A=CA2255578991NF1c.615A= (n.615A=)
c.4795A= (p.Ile1599=)
n.919A=
c.804A=
n.1458A=
c.4843A= (p.Ile1615=)
c.4813A= (p.Ile1605=)
c.4750A= (p.Ile1584=)
c.3748A= (p.Ile1250=)
n.3286A=
c.4852A= (p.Ile1618=)
c.4804A= (p.Ile1602=)
c.4780A= (p.Ile1594=)
c.4840A= (p.Ile1614=)
17g.31265317A>CCA399001344NF1c.615A>C (n.615A>C)
c.4795A>C (p.Ile1599Leu)
n.919A>C
c.804A>C
n.1458A>C
c.4843A>C (p.Ile1615Leu)
c.4813A>C (p.Ile1605Leu)
c.4750A>C (p.Ile1584Leu)
c.3748A>C (p.Ile1250Leu)
n.3286A>C
c.4852A>C (p.Ile1618Leu)
c.4804A>C (p.Ile1602Leu)
c.4780A>C (p.Ile1594Leu)
c.4840A>C (p.Ile1614Leu)
17g.31265317A>GCA219599NF1c.615A>G (n.615A>G)
c.4795A>G (p.Ile1599Val)
n.919A>G
c.804A>G
n.1458A>G
c.4843A>G (p.Ile1615Val)
c.4813A>G (p.Ile1605Val)
c.4750A>G (p.Ile1584Val)
c.3748A>G (p.Ile1250Val)
n.3286A>G
c.4852A>G (p.Ile1618Val)
c.4804A>G (p.Ile1602Val)
c.4780A>G (p.Ile1594Val)
c.4840A>G (p.Ile1614Val)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.31265317A>TCA399001345NF1c.615A>T (n.615A>T)
c.4795A>T (p.Ile1599Phe)
n.919A>T
c.804A>T
n.1458A>T
c.4843A>T (p.Ile1615Phe)
c.4813A>T (p.Ile1605Phe)
c.4750A>T (p.Ile1584Phe)
c.3748A>T (p.Ile1250Phe)
n.3286A>T
c.4852A>T (p.Ile1618Phe)
c.4804A>T (p.Ile1602Phe)
c.4780A>T (p.Ile1594Phe)
c.4840A>T (p.Ile1614Phe)
 ClinVar dbSNP
17g.31265317_31265318delinsATCA2255578992NF1c.615_616delinsAT (n.615_616delinsAT)
c.4795_4796delinsAT (p.Ile1599=)
n.919_920delinsAT
c.804_805delinsAT
n.1458_1459delinsAT
c.4843_4844delinsAT (p.Ile1615=)
c.4813_4814delinsAT (p.Ile1605=)
c.4750_4751delinsAT (p.Ile1584=)
c.3748_3749delinsAT (p.Ile1250=)
n.3286_3287delinsAT
c.4852_4853delinsAT (p.Ile1618=)
c.4804_4805delinsAT (p.Ile1602=)
c.4780_4781delinsAT (p.Ile1594=)
c.4840_4841delinsAT (p.Ile1614=)
17g.31265318T>ACA399001346NF1c.616T>A (n.616T>A)
c.4796T>A (p.Ile1599Asn)
n.920T>A
c.805T>A
n.1459T>A
c.4844T>A (p.Ile1615Asn)
c.4814T>A (p.Ile1605Asn)
c.4751T>A (p.Ile1584Asn)
c.3749T>A (p.Ile1250Asn)
n.3287T>A
c.4853T>A (p.Ile1618Asn)
c.4805T>A (p.Ile1602Asn)
c.4781T>A (p.Ile1594Asn)
c.4841T>A (p.Ile1614Asn)
 ClinVar
17g.31265318T>CCA399001347NF1c.616T>C (n.616T>C)
c.4796T>C (p.Ile1599Thr)
n.920T>C
c.805T>C
n.1459T>C
c.4844T>C (p.Ile1615Thr)
c.4814T>C (p.Ile1605Thr)
c.4751T>C (p.Ile1584Thr)
c.3749T>C (p.Ile1250Thr)
n.3287T>C
c.4853T>C (p.Ile1618Thr)
c.4805T>C (p.Ile1602Thr)
c.4781T>C (p.Ile1594Thr)
c.4841T>C (p.Ile1614Thr)
17g.31265318T>GCA399001348NF1c.616T>G (n.616T>G)
c.4796T>G (p.Ile1599Ser)
n.920T>G
c.805T>G
n.1459T>G
c.4844T>G (p.Ile1615Ser)
c.4814T>G (p.Ile1605Ser)
c.4751T>G (p.Ile1584Ser)
c.3749T>G (p.Ile1250Ser)
n.3287T>G
c.4853T>G (p.Ile1618Ser)
c.4805T>G (p.Ile1602Ser)
c.4781T>G (p.Ile1594Ser)
c.4841T>G (p.Ile1614Ser)
17g.31265323dupCA10580326NF1c.621dup (n.621dup)
c.4801dup (p.Tyr1601LeufsTer15)
n.925dup
c.810dup
n.1464dup
c.4849dup (p.Tyr1617LeufsTer15)
c.4819dup (p.Tyr1607LeufsTer15)
c.4756dup (p.Tyr1586LeufsTer15)
c.3754dup (p.Tyr1252LeufsTer15)
n.3292dup
c.4858dup (p.Tyr1620LeufsTer24)
c.4810dup (p.Tyr1604LeufsTer15)
c.4786dup (p.Tyr1596LeufsTer15)
c.4849dup (p.Tyr1617LeufsTer?)
c.4846dup (p.Tyr1616LeufsTer15)
 ClinVar dbSNP
17g.31265323delCA499234194NF1c.621del (n.621del)
c.4801del (p.Tyr1601IlefsTer17)
n.925del
c.810del
n.1464del
c.4849del (p.Tyr1617IlefsTer17)
c.4819del (p.Tyr1607IlefsTer17)
c.4756del (p.Tyr1586IlefsTer17)
c.3754del (p.Tyr1252IlefsTer17)
n.3292del
c.4858del (p.Tyr1620IlefsTer13)
c.4810del (p.Tyr1604IlefsTer17)
c.4786del (p.Tyr1596IlefsTer17)
c.4849del (p.Tyr1617IlefsTer?)
c.4846del (p.Tyr1616IlefsTer17)
 ClinVar dbSNP COSMIC COSMIC COSMIC
17g.31265319T>ACA499234195NF1c.617T>A (n.617T>A)
c.4797T>A (p.Ile1599=)
n.921T>A
c.806T>A
n.1460T>A
c.4845T>A (p.Ile1615=)
c.4815T>A (p.Ile1605=)
c.4752T>A (p.Ile1584=)
c.3750T>A (p.Ile1250=)
n.3288T>A
c.4854T>A (p.Ile1618=)
c.4806T>A (p.Ile1602=)
c.4782T>A (p.Ile1594=)
c.4842T>A (p.Ile1614=)
 gnomAD v4
17g.31265319T>CCA499234196NF1c.617T>C (n.617T>C)
c.4797T>C (p.Ile1599=)
n.921T>C
c.806T>C
n.1460T>C
c.4845T>C (p.Ile1615=)
c.4815T>C (p.Ile1605=)
c.4752T>C (p.Ile1584=)
c.3750T>C (p.Ile1250=)
n.3288T>C
c.4854T>C (p.Ile1618=)
c.4806T>C (p.Ile1602=)
c.4782T>C (p.Ile1594=)
c.4842T>C (p.Ile1614=)
 dbSNP gnomAD v4
17g.31265319T>GCA399001349NF1c.617T>G (n.617T>G)
c.4797T>G (p.Ile1599Met)
n.921T>G
c.806T>G
n.1460T>G
c.4845T>G (p.Ile1615Met)
c.4815T>G (p.Ile1605Met)
c.4752T>G (p.Ile1584Met)
c.3750T>G (p.Ile1250Met)
n.3288T>G
c.4854T>G (p.Ile1618Met)
c.4806T>G (p.Ile1602Met)
c.4782T>G (p.Ile1594Met)
c.4842T>G (p.Ile1614Met)
17g.31265319_31265324delinsTTTTTACA2255578993NF1c.617_622delinsTTTTTA (n.617_622delinsTTTTTA)
c.4797_4802delinsTTTTTA (p.Ile1599=)
n.921_926delinsTTTTTA
c.806_811delinsTTTTTA
n.1460_1465delinsTTTTTA
c.4845_4850delinsTTTTTA (p.Ile1615=)
c.4815_4820delinsTTTTTA (p.Ile1605=)
c.4752_4757delinsTTTTTA (p.Ile1584=)
c.3750_3755delinsTTTTTA (p.Ile1250=)
n.3288_3293delinsTTTTTA
c.4854_4859delinsTTTTTA (p.Ile1618=)
c.4806_4811delinsTTTTTA (p.Ile1602=)
c.4782_4787delinsTTTTTA (p.Ile1594=)
c.4842_4847delinsTTTTTA (p.Ile1614=)
17g.31265320T>ACA399001350NF1c.618T>A (n.618T>A)
c.4798T>A (p.Phe1600Ile)
n.922T>A
c.807T>A
n.1461T>A
c.4846T>A (p.Phe1616Ile)
c.4816T>A (p.Phe1606Ile)
c.4753T>A (p.Phe1585Ile)
c.3751T>A (p.Phe1251Ile)
n.3289T>A
c.4855T>A (p.Phe1619Ile)
c.4807T>A (p.Phe1603Ile)
c.4783T>A (p.Phe1595Ile)
c.4843T>A (p.Phe1615Ile)
17g.31265320T>CCA399001351NF1c.618T>C (n.618T>C)
c.4798T>C (p.Phe1600Leu)
n.922T>C
c.807T>C
n.1461T>C
c.4846T>C (p.Phe1616Leu)
c.4816T>C (p.Phe1606Leu)
c.4753T>C (p.Phe1585Leu)
c.3751T>C (p.Phe1251Leu)
n.3289T>C
c.4855T>C (p.Phe1619Leu)
c.4807T>C (p.Phe1603Leu)
c.4783T>C (p.Phe1595Leu)
c.4843T>C (p.Phe1615Leu)
 dbSNP
17g.31265320T>GCA399001352NF1c.618T>G (n.618T>G)
c.4798T>G (p.Phe1600Val)
n.922T>G
c.807T>G
n.1461T>G
c.4846T>G (p.Phe1616Val)
c.4816T>G (p.Phe1606Val)
c.4753T>G (p.Phe1585Val)
c.3751T>G (p.Phe1251Val)
n.3289T>G
c.4855T>G (p.Phe1619Val)
c.4807T>G (p.Phe1603Val)
c.4783T>G (p.Phe1595Val)
c.4843T>G (p.Phe1615Val)
17g.31265322_31265326delCA658684015NF1c.620_624del (n.620_624del)
c.4800_4804del (p.Phe1600LeufsTer14)
n.924_928del
c.809_813del
n.1463_1467del
c.4848_4852del (p.Phe1616LeufsTer14)
c.4818_4822del (p.Phe1606LeufsTer14)
c.4755_4759del (p.Phe1585LeufsTer14)
c.3753_3757del (p.Phe1251LeufsTer14)
n.3291_3295del
c.4857_4861del (p.Phe1619LeufsTer23)
c.4809_4813del (p.Phe1603LeufsTer14)
c.4785_4789del (p.Phe1595LeufsTer14)
c.4848_4852del (p.Phe1616LeufsTer?)
c.4845_4849del (p.Phe1615LeufsTer14)
 ClinVar dbSNP
17g.31265321T>ACA399001353NF1c.619T>A (n.619T>A)
c.4799T>A (p.Phe1600Tyr)
n.923T>A
c.808T>A
n.1462T>A
c.4847T>A (p.Phe1616Tyr)
c.4817T>A (p.Phe1606Tyr)
c.4754T>A (p.Phe1585Tyr)
c.3752T>A (p.Phe1251Tyr)
n.3290T>A
c.4856T>A (p.Phe1619Tyr)
c.4808T>A (p.Phe1603Tyr)
c.4784T>A (p.Phe1595Tyr)
c.4844T>A (p.Phe1615Tyr)
17g.31265321T>CCA399001354NF1c.619T>C (n.619T>C)
c.4799T>C (p.Phe1600Ser)
n.923T>C
c.808T>C
n.1462T>C
c.4847T>C (p.Phe1616Ser)
c.4817T>C (p.Phe1606Ser)
c.4754T>C (p.Phe1585Ser)
c.3752T>C (p.Phe1251Ser)
n.3290T>C
c.4856T>C (p.Phe1619Ser)
c.4808T>C (p.Phe1603Ser)
c.4784T>C (p.Phe1595Ser)
c.4844T>C (p.Phe1615Ser)
 ClinVar
17g.31265321T>GCA399001355NF1c.619T>G (n.619T>G)
c.4799T>G (p.Phe1600Cys)
n.923T>G
c.808T>G
n.1462T>G
c.4847T>G (p.Phe1616Cys)
c.4817T>G (p.Phe1606Cys)
c.4754T>G (p.Phe1585Cys)
c.3752T>G (p.Phe1251Cys)
n.3290T>G
c.4856T>G (p.Phe1619Cys)
c.4808T>G (p.Phe1603Cys)
c.4784T>G (p.Phe1595Cys)
c.4844T>G (p.Phe1615Cys)
17g.31265322T>ACA399001357NF1c.620T>A (n.620T>A)
c.4800T>A (p.Phe1600Leu)
n.924T>A
c.809T>A
n.1463T>A
c.4848T>A (p.Phe1616Leu)
c.4818T>A (p.Phe1606Leu)
c.4755T>A (p.Phe1585Leu)
c.3753T>A (p.Phe1251Leu)
n.3291T>A
c.4857T>A (p.Phe1619Leu)
c.4809T>A (p.Phe1603Leu)
c.4785T>A (p.Phe1595Leu)
c.4845T>A (p.Phe1615Leu)
17g.31265322T>CCA499234197NF1c.620T>C (n.620T>C)
c.4800T>C (p.Phe1600=)
n.924T>C
c.809T>C
n.1463T>C
c.4848T>C (p.Phe1616=)
c.4818T>C (p.Phe1606=)
c.4755T>C (p.Phe1585=)
c.3753T>C (p.Phe1251=)
n.3291T>C
c.4857T>C (p.Phe1619=)
c.4809T>C (p.Phe1603=)
c.4785T>C (p.Phe1595=)
c.4845T>C (p.Phe1615=)
17g.31265322T>GCA399001356NF1c.620T>G (n.620T>G)
c.4800T>G (p.Phe1600Leu)
n.924T>G
c.809T>G
n.1463T>G
c.4848T>G (p.Phe1616Leu)
c.4818T>G (p.Phe1606Leu)
c.4755T>G (p.Phe1585Leu)
c.3753T>G (p.Phe1251Leu)
n.3291T>G
c.4857T>G (p.Phe1619Leu)
c.4809T>G (p.Phe1603Leu)
c.4785T>G (p.Phe1595Leu)
c.4845T>G (p.Phe1615Leu)
17g.31265326_31265328delCA2576223434NF1c.624_626del (n.624_626del)
c.4804_4806del (p.Tyr1602del)
n.928_930del
c.813_815del
n.1467_1469del
c.4852_4854del (p.Tyr1618del)
c.4822_4824del (p.Tyr1608del)
c.4759_4761del (p.Tyr1587del)
c.3757_3759del (p.Tyr1253del)
n.3295_3297del
c.4861_4863del (p.Tyr1621del)
c.4813_4815del (p.Tyr1605del)
c.4789_4791del (p.Tyr1597del)
c.4849_4851del (p.Tyr1617del)
 ClinVar
17g.31265323T>ACA399001358NF1c.621T>A (n.621T>A)
c.4801T>A (p.Tyr1601Asn)
n.925T>A
c.810T>A
n.1464T>A
c.4849T>A (p.Tyr1617Asn)
c.4819T>A (p.Tyr1607Asn)
c.4756T>A (p.Tyr1586Asn)
c.3754T>A (p.Tyr1252Asn)
n.3292T>A
c.4858T>A (p.Tyr1620Asn)
c.4810T>A (p.Tyr1604Asn)
c.4786T>A (p.Tyr1596Asn)
c.4846T>A (p.Tyr1616Asn)
17g.31265323T>CCA399001359NF1c.621T>C (n.621T>C)
c.4801T>C (p.Tyr1601His)
n.925T>C
c.810T>C
n.1464T>C
c.4849T>C (p.Tyr1617His)
c.4819T>C (p.Tyr1607His)
c.4756T>C (p.Tyr1586His)
c.3754T>C (p.Tyr1252His)
n.3292T>C
c.4858T>C (p.Tyr1620His)
c.4810T>C (p.Tyr1604His)
c.4786T>C (p.Tyr1596His)
c.4846T>C (p.Tyr1616His)
17g.31265323T>GCA399001360NF1c.621T>G (n.621T>G)
c.4801T>G (p.Tyr1601Asp)
n.925T>G
c.810T>G
n.1464T>G
c.4849T>G (p.Tyr1617Asp)
c.4819T>G (p.Tyr1607Asp)
c.4756T>G (p.Tyr1586Asp)
c.3754T>G (p.Tyr1252Asp)
n.3292T>G
c.4858T>G (p.Tyr1620Asp)
c.4810T>G (p.Tyr1604Asp)
c.4786T>G (p.Tyr1596Asp)
c.4846T>G (p.Tyr1616Asp)
17g.31265324A>CCA399001361NF1c.622A>C (n.622A>C)
c.4802A>C (p.Tyr1601Ser)
n.926A>C
c.811A>C
n.1465A>C
c.4850A>C (p.Tyr1617Ser)
c.4820A>C (p.Tyr1607Ser)
c.4757A>C (p.Tyr1586Ser)
c.3755A>C (p.Tyr1252Ser)
n.3293A>C
c.4859A>C (p.Tyr1620Ser)
c.4811A>C (p.Tyr1604Ser)
c.4787A>C (p.Tyr1596Ser)
c.4847A>C (p.Tyr1616Ser)
17g.31265324A>GCA399001362NF1c.622A>G (n.622A>G)
c.4802A>G (p.Tyr1601Cys)
n.926A>G
c.811A>G
n.1465A>G
c.4850A>G (p.Tyr1617Cys)
c.4820A>G (p.Tyr1607Cys)
c.4757A>G (p.Tyr1586Cys)
c.3755A>G (p.Tyr1252Cys)
n.3293A>G
c.4859A>G (p.Tyr1620Cys)
c.4811A>G (p.Tyr1604Cys)
c.4787A>G (p.Tyr1596Cys)
c.4847A>G (p.Tyr1616Cys)
 ClinVar gnomAD v4
17g.31265324A>TCA399001363NF1c.622A>T (n.622A>T)
c.4802A>T (p.Tyr1601Phe)
n.926A>T
c.811A>T
n.1465A>T
c.4850A>T (p.Tyr1617Phe)
c.4820A>T (p.Tyr1607Phe)
c.4757A>T (p.Tyr1586Phe)
c.3755A>T (p.Tyr1252Phe)
n.3293A>T
c.4859A>T (p.Tyr1620Phe)
c.4811A>T (p.Tyr1604Phe)
c.4787A>T (p.Tyr1596Phe)
c.4847A>T (p.Tyr1616Phe)
 dbSNP
17g.31265325T>ACA399001364NF1c.623T>A (n.623T>A)
c.4803T>A (p.Tyr1601Ter)
n.927T>A
c.812T>A
n.1466T>A
c.4851T>A (p.Tyr1617Ter)
c.4821T>A (p.Tyr1607Ter)
c.4758T>A (p.Tyr1586Ter)
c.3756T>A (p.Tyr1252Ter)
n.3294T>A
c.4860T>A (p.Tyr1620Ter)
c.4812T>A (p.Tyr1604Ter)
c.4788T>A (p.Tyr1596Ter)
c.4848T>A (p.Tyr1616Ter)
 ClinVar dbSNP
17g.31265325T>CCA499234198NF1c.623T>C (n.623T>C)
c.4803T>C (p.Tyr1601=)
n.927T>C
c.812T>C
n.1466T>C
c.4851T>C (p.Tyr1617=)
c.4821T>C (p.Tyr1607=)
c.4758T>C (p.Tyr1586=)
c.3756T>C (p.Tyr1252=)
n.3294T>C
c.4860T>C (p.Tyr1620=)
c.4812T>C (p.Tyr1604=)
c.4788T>C (p.Tyr1596=)
c.4848T>C (p.Tyr1616=)
 ClinVar dbSNP
17g.31265325T>GCA399001365NF1c.623T>G (n.623T>G)
c.4803T>G (p.Tyr1601Ter)
n.927T>G
c.812T>G
n.1466T>G
c.4851T>G (p.Tyr1617Ter)
c.4821T>G (p.Tyr1607Ter)
c.4758T>G (p.Tyr1586Ter)
c.3756T>G (p.Tyr1252Ter)
n.3294T>G
c.4860T>G (p.Tyr1620Ter)
c.4812T>G (p.Tyr1604Ter)
c.4788T>G (p.Tyr1596Ter)
c.4848T>G (p.Tyr1616Ter)
 ClinVar dbSNP
17g.31265325T=CA2255578994NF1c.623T= (n.623T=)
c.4803T= (p.Tyr1601=)
n.927T=
c.812T=
n.1466T=
c.4851T= (p.Tyr1617=)
c.4821T= (p.Tyr1607=)
c.4758T= (p.Tyr1586=)
c.3756T= (p.Tyr1252=)
n.3294T=
c.4860T= (p.Tyr1620=)
c.4812T= (p.Tyr1604=)
c.4788T= (p.Tyr1596=)
c.4848T= (p.Tyr1616=)
17g.31265326delCA2695225428NF1c.624del (n.624del)
c.4804del (p.Tyr1602MetfsTer16)
n.928del
c.813del
n.1467del
c.4852del (p.Tyr1618MetfsTer16)
c.4822del (p.Tyr1608MetfsTer16)
c.4759del (p.Tyr1587MetfsTer16)
c.3757del (p.Tyr1253MetfsTer16)
n.3295del
c.4861del (p.Tyr1621MetfsTer12)
c.4813del (p.Tyr1605MetfsTer16)
c.4789del (p.Tyr1597MetfsTer16)
c.4852del (p.Tyr1618MetfsTer?)
c.4849del (p.Tyr1617MetfsTer16)
17g.31265326T>ACA399001366NF1c.624T>A (n.624T>A)
c.4804T>A (p.Tyr1602Asn)
n.928T>A
c.813T>A
n.1467T>A
c.4852T>A (p.Tyr1618Asn)
c.4822T>A (p.Tyr1608Asn)
c.4759T>A (p.Tyr1587Asn)
c.3757T>A (p.Tyr1253Asn)
n.3295T>A
c.4861T>A (p.Tyr1621Asn)
c.4813T>A (p.Tyr1605Asn)
c.4789T>A (p.Tyr1597Asn)
c.4849T>A (p.Tyr1617Asn)
17g.31265326T>CCA399001367NF1c.624T>C (n.624T>C)
c.4804T>C (p.Tyr1602His)
n.928T>C
c.813T>C
n.1467T>C
c.4852T>C (p.Tyr1618His)
c.4822T>C (p.Tyr1608His)
c.4759T>C (p.Tyr1587His)
c.3757T>C (p.Tyr1253His)
n.3295T>C
c.4861T>C (p.Tyr1621His)
c.4813T>C (p.Tyr1605His)
c.4789T>C (p.Tyr1597His)
c.4849T>C (p.Tyr1617His)
 gnomAD v4
17g.31265326T>GCA399001368NF1c.624T>G (n.624T>G)
c.4804T>G (p.Tyr1602Asp)
n.928T>G
c.813T>G
n.1467T>G
c.4852T>G (p.Tyr1618Asp)
c.4822T>G (p.Tyr1608Asp)
c.4759T>G (p.Tyr1587Asp)
c.3757T>G (p.Tyr1253Asp)
n.3295T>G
c.4861T>G (p.Tyr1621Asp)
c.4813T>G (p.Tyr1605Asp)
c.4789T>G (p.Tyr1597Asp)
c.4849T>G (p.Tyr1617Asp)
 ClinVar dbSNP
17g.31265326T=CA2255578995NF1c.624T= (n.624T=)
c.4804T= (p.Tyr1602=)
n.928T=
c.813T=
n.1467T=
c.4852T= (p.Tyr1618=)
c.4822T= (p.Tyr1608=)
c.4759T= (p.Tyr1587=)
c.3757T= (p.Tyr1253=)
n.3295T=
c.4861T= (p.Tyr1621=)
c.4813T= (p.Tyr1605=)
c.4789T= (p.Tyr1597=)
c.4849T= (p.Tyr1617=)
17g.31265327A=CA2255578996NF1c.625A= (n.625A=)
c.4805A= (p.Tyr1602=)
n.929A=
c.814A=
n.1468A=
c.4853A= (p.Tyr1618=)
c.4823A= (p.Tyr1608=)
c.4760A= (p.Tyr1587=)
c.3758A= (p.Tyr1253=)
n.3296A=
c.4862A= (p.Tyr1621=)
c.4814A= (p.Tyr1605=)
c.4790A= (p.Tyr1597=)
c.4850A= (p.Tyr1617=)
17g.31265327A>CCA399001369NF1c.625A>C (n.625A>C)
c.4805A>C (p.Tyr1602Ser)
n.929A>C
c.814A>C
n.1468A>C
c.4853A>C (p.Tyr1618Ser)
c.4823A>C (p.Tyr1608Ser)
c.4760A>C (p.Tyr1587Ser)
c.3758A>C (p.Tyr1253Ser)
n.3296A>C
c.4862A>C (p.Tyr1621Ser)
c.4814A>C (p.Tyr1605Ser)
c.4790A>C (p.Tyr1597Ser)
c.4850A>C (p.Tyr1617Ser)
 ClinVar dbSNP
17g.31265327A>GCA399001370NF1c.625A>G (n.625A>G)
c.4805A>G (p.Tyr1602Cys)
n.929A>G
c.814A>G
n.1468A>G
c.4853A>G (p.Tyr1618Cys)
c.4823A>G (p.Tyr1608Cys)
c.4760A>G (p.Tyr1587Cys)
c.3758A>G (p.Tyr1253Cys)
n.3296A>G
c.4862A>G (p.Tyr1621Cys)
c.4814A>G (p.Tyr1605Cys)
c.4790A>G (p.Tyr1597Cys)
c.4850A>G (p.Tyr1617Cys)
 ClinVar dbSNP
17g.31265327A>TCA399001371NF1c.625A>T (n.625A>T)
c.4805A>T (p.Tyr1602Phe)
n.929A>T
c.814A>T
n.1468A>T
c.4853A>T (p.Tyr1618Phe)
c.4823A>T (p.Tyr1608Phe)
c.4760A>T (p.Tyr1587Phe)
c.3758A>T (p.Tyr1253Phe)
n.3296A>T
c.4862A>T (p.Tyr1621Phe)
c.4814A>T (p.Tyr1605Phe)
c.4790A>T (p.Tyr1597Phe)
c.4850A>T (p.Tyr1617Phe)
17g.31265328delCA2499224152NF1c.626del (n.626del)
c.4806del (p.Tyr1602Ter)
n.930del
c.815del
n.1469del
c.4854del (p.Tyr1618Ter)
c.4824del (p.Tyr1608Ter)
c.4761del (p.Tyr1587Ter)
c.3759del (p.Tyr1253Ter)
n.3297del
c.4863del (p.Tyr1621Ter)
c.4815del (p.Tyr1605Ter)
c.4791del (p.Tyr1597Ter)
c.4851del (p.Tyr1617Ter)
 ClinVar dbSNP
17g.31265328T>ACA399001372NF1c.626T>A (n.626T>A)
c.4806T>A (p.Tyr1602Ter)
n.930T>A
c.815T>A
n.1469T>A
c.4854T>A (p.Tyr1618Ter)
c.4824T>A (p.Tyr1608Ter)
c.4761T>A (p.Tyr1587Ter)
c.3759T>A (p.Tyr1253Ter)
n.3297T>A
c.4863T>A (p.Tyr1621Ter)
c.4815T>A (p.Tyr1605Ter)
c.4791T>A (p.Tyr1597Ter)
c.4851T>A (p.Tyr1617Ter)
 ClinVar dbSNP
17g.31265328T>CCA499234199NF1c.626T>C (n.626T>C)
c.4806T>C (p.Tyr1602=)
n.930T>C
c.815T>C
n.1469T>C
c.4854T>C (p.Tyr1618=)
c.4824T>C (p.Tyr1608=)
c.4761T>C (p.Tyr1587=)
c.3759T>C (p.Tyr1253=)
n.3297T>C
c.4863T>C (p.Tyr1621=)
c.4815T>C (p.Tyr1605=)
c.4791T>C (p.Tyr1597=)
c.4851T>C (p.Tyr1617=)
 ClinVar dbSNP
17g.31265328T>GCA399001373NF1c.626T>G (n.626T>G)
c.4806T>G (p.Tyr1602Ter)
n.930T>G
c.815T>G
n.1469T>G
c.4854T>G (p.Tyr1618Ter)
c.4824T>G (p.Tyr1608Ter)
c.4761T>G (p.Tyr1587Ter)
c.3759T>G (p.Tyr1253Ter)
n.3297T>G
c.4863T>G (p.Tyr1621Ter)
c.4815T>G (p.Tyr1605Ter)
c.4791T>G (p.Tyr1597Ter)
c.4851T>G (p.Tyr1617Ter)
 ClinVar dbSNP
17g.31265328T=CA2255578997NF1c.626T= (n.626T=)
c.4806T= (p.Tyr1602=)
n.930T=
c.815T=
n.1469T=
c.4854T= (p.Tyr1618=)
c.4824T= (p.Tyr1608=)
c.4761T= (p.Tyr1587=)
c.3759T= (p.Tyr1253=)
n.3297T=
c.4863T= (p.Tyr1621=)
c.4815T= (p.Tyr1605=)
c.4791T= (p.Tyr1597=)
c.4851T= (p.Tyr1617=)
17g.31265329G>ACA10580327NF1c.627G>A (n.627G>A)
c.4807G>A (p.Val1603Ile)
n.931G>A
c.816G>A
n.1470G>A
c.4855G>A (p.Val1619Ile)
c.4825G>A (p.Val1609Ile)
c.4762G>A (p.Val1588Ile)
c.3760G>A (p.Val1254Ile)
n.3298G>A
c.4864G>A (p.Val1622Ile)
c.4816G>A (p.Val1606Ile)
c.4792G>A (p.Val1598Ile)
c.4852G>A (p.Val1618Ile)
 ClinVar dbSNP gnomAD v4
17g.31265329G>CCA399001374NF1c.627G>C (n.627G>C)
c.4807G>C (p.Val1603Leu)
n.931G>C
c.816G>C
n.1470G>C
c.4855G>C (p.Val1619Leu)
c.4825G>C (p.Val1609Leu)
c.4762G>C (p.Val1588Leu)
c.3760G>C (p.Val1254Leu)
n.3298G>C
c.4864G>C (p.Val1622Leu)
c.4816G>C (p.Val1606Leu)
c.4792G>C (p.Val1598Leu)
c.4852G>C (p.Val1618Leu)
 dbSNP
17g.31265329G=CA2255578998NF1c.627G= (n.627G=)
c.4807G= (p.Val1603=)
n.931G=
c.816G=
n.1470G=
c.4855G= (p.Val1619=)
c.4825G= (p.Val1609=)
c.4762G= (p.Val1588=)
c.3760G= (p.Val1254=)
n.3298G=
c.4864G= (p.Val1622=)
c.4816G= (p.Val1606=)
c.4792G= (p.Val1598=)
c.4852G= (p.Val1618=)
17g.31265329G>TCA399001375NF1c.627G>T (n.627G>T)
c.4807G>T (p.Val1603Phe)
n.931G>T
c.816G>T
n.1470G>T
c.4855G>T (p.Val1619Phe)
c.4825G>T (p.Val1609Phe)
c.4762G>T (p.Val1588Phe)
c.3760G>T (p.Val1254Phe)
n.3298G>T
c.4864G>T (p.Val1622Phe)
c.4816G>T (p.Val1606Phe)
c.4792G>T (p.Val1598Phe)
c.4852G>T (p.Val1618Phe)
17g.31265330T>ACA399001376NF1c.628T>A (n.628T>A)
c.4808T>A (p.Val1603Asp)
n.932T>A
c.817T>A
n.1471T>A
c.4856T>A (p.Val1619Asp)
c.4826T>A (p.Val1609Asp)
c.4763T>A (p.Val1588Asp)
c.3761T>A (p.Val1254Asp)
n.3299T>A
c.4865T>A (p.Val1622Asp)
c.4817T>A (p.Val1606Asp)
c.4793T>A (p.Val1598Asp)
c.4853T>A (p.Val1618Asp)
 dbSNP
17g.31265330T>CCA10580328NF1c.628T>C (n.628T>C)
c.4808T>C (p.Val1603Ala)
n.932T>C
c.817T>C
n.1471T>C
c.4856T>C (p.Val1619Ala)
c.4826T>C (p.Val1609Ala)
c.4763T>C (p.Val1588Ala)
c.3761T>C (p.Val1254Ala)
n.3299T>C
c.4865T>C (p.Val1622Ala)
c.4817T>C (p.Val1606Ala)
c.4793T>C (p.Val1598Ala)
c.4853T>C (p.Val1618Ala)
 ClinVar dbSNP COSMIC COSMIC
17g.31265330T>GCA399001377NF1c.628T>G (n.628T>G)
c.4808T>G (p.Val1603Gly)
n.932T>G
c.817T>G
n.1471T>G
c.4856T>G (p.Val1619Gly)
c.4826T>G (p.Val1609Gly)
c.4763T>G (p.Val1588Gly)
c.3761T>G (p.Val1254Gly)
n.3299T>G
c.4865T>G (p.Val1622Gly)
c.4817T>G (p.Val1606Gly)
c.4793T>G (p.Val1598Gly)
c.4853T>G (p.Val1618Gly)
17g.31265330T=CA2255578999NF1c.628T= (n.628T=)
c.4808T= (p.Val1603=)
n.932T=
c.817T=
n.1471T=
c.4856T= (p.Val1619=)
c.4826T= (p.Val1609=)
c.4763T= (p.Val1588=)
c.3761T= (p.Val1254=)
n.3299T=
c.4865T= (p.Val1622=)
c.4817T= (p.Val1606=)
c.4793T= (p.Val1598=)
c.4853T= (p.Val1618=)
17g.31265331T>ACA499234200NF1c.629T>A (n.629T>A)
c.4809T>A (p.Val1603=)
n.933T>A
c.818T>A
n.1472T>A
c.4857T>A (p.Val1619=)
c.4827T>A (p.Val1609=)
c.4764T>A (p.Val1588=)
c.3762T>A (p.Val1254=)
n.3300T>A
c.4866T>A (p.Val1622=)
c.4818T>A (p.Val1606=)
c.4794T>A (p.Val1598=)
c.4854T>A (p.Val1618=)
17g.31265331T>CCA499234201NF1c.629T>C (n.629T>C)
c.4809T>C (p.Val1603=)
n.933T>C
c.818T>C
n.1472T>C
c.4857T>C (p.Val1619=)
c.4827T>C (p.Val1609=)
c.4764T>C (p.Val1588=)
c.3762T>C (p.Val1254=)
n.3300T>C
c.4866T>C (p.Val1622=)
c.4818T>C (p.Val1606=)
c.4794T>C (p.Val1598=)
c.4854T>C (p.Val1618=)
 ClinVar dbSNP
17g.31265331T>GCA499234202NF1c.629T>G (n.629T>G)
c.4809T>G (p.Val1603=)
n.933T>G
c.818T>G
n.1472T>G
c.4857T>G (p.Val1619=)
c.4827T>G (p.Val1609=)
c.4764T>G (p.Val1588=)
c.3762T>G (p.Val1254=)
n.3300T>G
c.4866T>G (p.Val1622=)
c.4818T>G (p.Val1606=)
c.4794T>G (p.Val1598=)
c.4854T>G (p.Val1618=)
17g.31265331T=CA2255579000NF1c.629T= (n.629T=)
c.4809T= (p.Val1603=)
n.933T=
c.818T=
n.1472T=
c.4857T= (p.Val1619=)
c.4827T= (p.Val1609=)
c.4764T= (p.Val1588=)
c.3762T= (p.Val1254=)
n.3300T=
c.4866T= (p.Val1622=)
c.4818T= (p.Val1606=)
c.4794T= (p.Val1598=)
c.4854T= (p.Val1618=)
17g.31265332G>ACA399001378NF1c.630G>A (n.630G>A)
c.4810G>A (p.Ala1604Thr)
n.934G>A
c.819G>A
n.1473G>A
c.4858G>A (p.Ala1620Thr)
c.4828G>A (p.Ala1610Thr)
c.4765G>A (p.Ala1589Thr)
c.3763G>A (p.Ala1255Thr)
n.3301G>A
c.4867G>A (p.Ala1623Thr)
c.4819G>A (p.Ala1607Thr)
c.4795G>A (p.Ala1599Thr)
c.4855G>A (p.Ala1619Thr)
 ClinVar dbSNP gnomAD v4
17g.31265332G>CCA399001379NF1c.630G>C (n.630G>C)
c.4810G>C (p.Ala1604Pro)
n.934G>C
c.819G>C
n.1473G>C
c.4858G>C (p.Ala1620Pro)
c.4828G>C (p.Ala1610Pro)
c.4765G>C (p.Ala1589Pro)
c.3763G>C (p.Ala1255Pro)
n.3301G>C
c.4867G>C (p.Ala1623Pro)
c.4819G>C (p.Ala1607Pro)
c.4795G>C (p.Ala1599Pro)
c.4855G>C (p.Ala1619Pro)
17g.31265332G=CA2255579001NF1c.630G= (n.630G=)
c.4810G= (p.Ala1604=)
n.934G=
c.819G=
n.1473G=
c.4858G= (p.Ala1620=)
c.4828G= (p.Ala1610=)
c.4765G= (p.Ala1589=)
c.3763G= (p.Ala1255=)
n.3301G=
c.4867G= (p.Ala1623=)
c.4819G= (p.Ala1607=)
c.4795G= (p.Ala1599=)
c.4855G= (p.Ala1619=)
17g.31265332G>TCA399001380NF1c.630G>T (n.630G>T)
c.4810G>T (p.Ala1604Ser)
n.934G>T
c.819G>T
n.1473G>T
c.4858G>T (p.Ala1620Ser)
c.4828G>T (p.Ala1610Ser)
c.4765G>T (p.Ala1589Ser)
c.3763G>T (p.Ala1255Ser)
n.3301G>T
c.4867G>T (p.Ala1623Ser)
c.4819G>T (p.Ala1607Ser)
c.4795G>T (p.Ala1599Ser)
c.4855G>T (p.Ala1619Ser)
 ClinVar dbSNP
17g.31265332dupCA658798811NF1c.630dup (n.630dup)
c.4810dup (p.Ala1604GlyfsTer12)
n.934dup
c.819dup
n.1473dup
c.4858dup (p.Ala1620GlyfsTer12)
c.4828dup (p.Ala1610GlyfsTer12)
c.4765dup (p.Ala1589GlyfsTer12)
c.3763dup (p.Ala1255GlyfsTer12)
n.3301dup
c.4867dup (p.Ala1623GlyfsTer21)
c.4819dup (p.Ala1607GlyfsTer12)
c.4795dup (p.Ala1599GlyfsTer12)
c.4858dup (p.Ala1620GlyfsTer?)
c.4855dup (p.Ala1619GlyfsTer12)
 ClinVar dbSNP
17g.31265333_31265336delCA2695225429NF1c.631_634del (n.631_634del)
c.4811_4814del (p.Ala1604GlyfsTer13)
n.935_938del
c.820_823del
n.1474_1477del
c.4859_4862del (p.Ala1620GlyfsTer13)
c.4829_4832del (p.Ala1610GlyfsTer13)
c.4766_4769del (p.Ala1589GlyfsTer13)
c.3764_3767del (p.Ala1255GlyfsTer13)
n.3302_3305del
c.4868_4871del (p.Ala1623GlyfsTer9)
c.4820_4823del (p.Ala1607GlyfsTer13)
c.4796_4799del (p.Ala1599GlyfsTer13)
c.4859_4862del (p.Ala1620GlyfsTer?)
c.4856_4859del (p.Ala1619GlyfsTer13)
17g.31265333C>ACA399001381NF1c.631C>A (n.631C>A)
c.4811C>A (p.Ala1604Glu)
n.935C>A
c.820C>A
n.1474C>A
c.4859C>A (p.Ala1620Glu)
c.4829C>A (p.Ala1610Glu)
c.4766C>A (p.Ala1589Glu)
c.3764C>A (p.Ala1255Glu)
n.3302C>A
c.4868C>A (p.Ala1623Glu)
c.4820C>A (p.Ala1607Glu)
c.4796C>A (p.Ala1599Glu)
c.4856C>A (p.Ala1619Glu)
 ClinVar gnomAD v4
17g.31265333C>GCA399001382NF1c.631C>G (n.631C>G)
c.4811C>G (p.Ala1604Gly)
n.935C>G
c.820C>G
n.1474C>G
c.4859C>G (p.Ala1620Gly)
c.4829C>G (p.Ala1610Gly)
c.4766C>G (p.Ala1589Gly)
c.3764C>G (p.Ala1255Gly)
n.3302C>G
c.4868C>G (p.Ala1623Gly)
c.4820C>G (p.Ala1607Gly)
c.4796C>G (p.Ala1599Gly)
c.4856C>G (p.Ala1619Gly)
 dbSNP
17g.31265333C>TCA399001383NF1c.631C>T (n.631C>T)
c.4811C>T (p.Ala1604Val)
n.935C>T
c.820C>T
n.1474C>T
c.4859C>T (p.Ala1620Val)
c.4829C>T (p.Ala1610Val)
c.4766C>T (p.Ala1589Val)
c.3764C>T (p.Ala1255Val)
n.3302C>T
c.4868C>T (p.Ala1623Val)
c.4820C>T (p.Ala1607Val)
c.4796C>T (p.Ala1599Val)
c.4856C>T (p.Ala1619Val)
 ClinVar dbSNP
17g.31265334A=CA2255579002NF1c.632A= (n.632A=)
c.4812A= (p.Ala1604=)
n.936A=
c.821A=
n.1475A=
c.4860A= (p.Ala1620=)
c.4830A= (p.Ala1610=)
c.4767A= (p.Ala1589=)
c.3765A= (p.Ala1255=)
n.3303A=
c.4869A= (p.Ala1623=)
c.4821A= (p.Ala1607=)
c.4797A= (p.Ala1599=)
c.4857A= (p.Ala1619=)
17g.31265334A>CCA499234203NF1c.632A>C (n.632A>C)
c.4812A>C (p.Ala1604=)
n.936A>C
c.821A>C
n.1475A>C
c.4860A>C (p.Ala1620=)
c.4830A>C (p.Ala1610=)
c.4767A>C (p.Ala1589=)
c.3765A>C (p.Ala1255=)
n.3303A>C
c.4869A>C (p.Ala1623=)
c.4821A>C (p.Ala1607=)
c.4797A>C (p.Ala1599=)
c.4857A>C (p.Ala1619=)
17g.31265334A>GCA8486477NF1c.632A>G (n.632A>G)
c.4812A>G (p.Ala1604=)
n.936A>G
c.821A>G
n.1475A>G
c.4860A>G (p.Ala1620=)
c.4830A>G (p.Ala1610=)
c.4767A>G (p.Ala1589=)
c.3765A>G (p.Ala1255=)
n.3303A>G
c.4869A>G (p.Ala1623=)
c.4821A>G (p.Ala1607=)
c.4797A>G (p.Ala1599=)
c.4857A>G (p.Ala1619=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.31265334A>TCA499234204NF1c.632A>T (n.632A>T)
c.4812A>T (p.Ala1604=)
n.936A>T
c.821A>T
n.1475A>T
c.4860A>T (p.Ala1620=)
c.4830A>T (p.Ala1610=)
c.4767A>T (p.Ala1589=)
c.3765A>T (p.Ala1255=)
n.3303A>T
c.4869A>T (p.Ala1623=)
c.4821A>T (p.Ala1607=)
c.4797A>T (p.Ala1599=)
c.4857A>T (p.Ala1619=)
 dbSNP
17g.31265334_31265336delinsCTCA2695225430NF1c.632_634delinsCT (n.632_634delinsCT)
c.4812_4814delinsCT (p.Arg1605Ter)
n.936_938delinsCT
c.821_823delinsCT
n.1475_1477delinsCT
c.4860_4862delinsCT (p.Arg1621Ter)
c.4830_4832delinsCT (p.Arg1611Ter)
c.4767_4769delinsCT (p.Arg1590Ter)
c.3765_3767delinsCT (p.Arg1256Ter)
n.3303_3305delinsCT
c.4869_4871delinsCT (p.Arg1624Ter)
c.4821_4823delinsCT (p.Arg1608Ter)
c.4797_4799delinsCT (p.Arg1600Ter)
c.4857_4859delinsCT (p.Arg1620Ter)
17g.31265335delCA2695225431NF1c.633del (n.633del)
c.4813del (p.Arg1605GlyfsTer13)
n.937del
c.822del
n.1476del
c.4861del (p.Arg1621GlyfsTer13)
c.4831del (p.Arg1611GlyfsTer13)
c.4768del (p.Arg1590GlyfsTer13)
c.3766del (p.Arg1256GlyfsTer13)
n.3304del
c.4870del (p.Arg1624GlyfsTer9)
c.4822del (p.Arg1608GlyfsTer13)
c.4798del (p.Arg1600GlyfsTer13)
c.4861del (p.Arg1621GlyfsTer?)
c.4858del (p.Arg1620GlyfsTer13)
17g.31265335C>ACA499234205NF1c.633C>A (n.633C>A)
c.4813C>A (p.Arg1605=)
n.937C>A
c.822C>A
n.1476C>A
c.4861C>A (p.Arg1621=)
c.4831C>A (p.Arg1611=)
c.4768C>A (p.Arg1590=)
c.3766C>A (p.Arg1256=)
n.3304C>A
c.4870C>A (p.Arg1624=)
c.4822C>A (p.Arg1608=)
c.4798C>A (p.Arg1600=)
c.4858C>A (p.Arg1620=)
 ClinVar dbSNP COSMIC COSMIC
17g.31265335C=CA2255579004NF1c.633C= (n.633C=)
c.4813C= (p.Arg1605=)
n.937C=
c.822C=
n.1476C=
c.4861C= (p.Arg1621=)
c.4831C= (p.Arg1611=)
c.4768C= (p.Arg1590=)
c.3766C= (p.Arg1256=)
n.3304C=
c.4870C= (p.Arg1624=)
c.4822C= (p.Arg1608=)
c.4798C= (p.Arg1600=)
c.4858C= (p.Arg1620=)
17g.31265335C>GCA399001384NF1c.633C>G (n.633C>G)
c.4813C>G (p.Arg1605Gly)
n.937C>G
c.822C>G
n.1476C>G
c.4861C>G (p.Arg1621Gly)
c.4831C>G (p.Arg1611Gly)
c.4768C>G (p.Arg1590Gly)
c.3766C>G (p.Arg1256Gly)
n.3304C>G
c.4870C>G (p.Arg1624Gly)
c.4822C>G (p.Arg1608Gly)
c.4798C>G (p.Arg1600Gly)
c.4858C>G (p.Arg1620Gly)
17g.31265335C>TCA16615259NF1c.633C>T (n.633C>T)
c.4813C>T (p.Arg1605Trp)
n.937C>T
c.822C>T
n.1476C>T
c.4861C>T (p.Arg1621Trp)
c.4831C>T (p.Arg1611Trp)
c.4768C>T (p.Arg1590Trp)
c.3766C>T (p.Arg1256Trp)
n.3304C>T
c.4870C>T (p.Arg1624Trp)
c.4822C>T (p.Arg1608Trp)
c.4798C>T (p.Arg1600Trp)
c.4858C>T (p.Arg1620Trp)
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
17g.31265335_31265338delinsCGGACA2255579003NF1c.633_636delinsCGGA (n.633_636delinsCGGA)
c.4813_4816delinsCGGA (p.Arg1605=)
n.937_940delinsCGGA
c.822_825delinsCGGA
n.1476_1479delinsCGGA
c.4861_4864delinsCGGA (p.Arg1621=)
c.4831_4834delinsCGGA (p.Arg1611=)
c.4768_4771delinsCGGA (p.Arg1590=)
c.3766_3769delinsCGGA (p.Arg1256=)
n.3304_3307delinsCGGA
c.4870_4873delinsCGGA (p.Arg1624=)
c.4822_4825delinsCGGA (p.Arg1608=)
c.4798_4801delinsCGGA (p.Arg1600=)
c.4858_4861delinsCGGA (p.Arg1620=)
17g.31265336G>ACA10580329NF1c.634G>A (n.634G>A)
c.4814G>A (p.Arg1605Gln)
n.938G>A
c.823G>A
n.1477G>A
c.4862G>A (p.Arg1621Gln)
c.4832G>A (p.Arg1611Gln)
c.4769G>A (p.Arg1590Gln)
c.3767G>A (p.Arg1256Gln)
n.3305G>A
c.4871G>A (p.Arg1624Gln)
c.4823G>A (p.Arg1608Gln)
c.4799G>A (p.Arg1600Gln)
c.4859G>A (p.Arg1620Gln)
 ClinVar dbSNP gnomAD v4
17g.31265336G>CCA399001386NF1c.634G>C (n.634G>C)
c.4814G>C (p.Arg1605Pro)
n.938G>C
c.823G>C
n.1477G>C
c.4862G>C (p.Arg1621Pro)
c.4832G>C (p.Arg1611Pro)
c.4769G>C (p.Arg1590Pro)
c.3767G>C (p.Arg1256Pro)
n.3305G>C
c.4871G>C (p.Arg1624Pro)
c.4823G>C (p.Arg1608Pro)
c.4799G>C (p.Arg1600Pro)
c.4859G>C (p.Arg1620Pro)
 dbSNP
17g.31265336G=CA2255579005NF1c.634G= (n.634G=)
c.4814G= (p.Arg1605=)
n.938G=
c.823G=
n.1477G=
c.4862G= (p.Arg1621=)
c.4832G= (p.Arg1611=)
c.4769G= (p.Arg1590=)
c.3767G= (p.Arg1256=)
n.3305G=
c.4871G= (p.Arg1624=)
c.4823G= (p.Arg1608=)
c.4799G= (p.Arg1600=)
c.4859G= (p.Arg1620=)
17g.31265336G>TCA399001385NF1c.634G>T (n.634G>T)
c.4814G>T (p.Arg1605Leu)
n.938G>T
c.823G>T
n.1477G>T
c.4862G>T (p.Arg1621Leu)
c.4832G>T (p.Arg1611Leu)
c.4769G>T (p.Arg1590Leu)
c.3767G>T (p.Arg1256Leu)
n.3305G>T
c.4871G>T (p.Arg1624Leu)
c.4823G>T (p.Arg1608Leu)
c.4799G>T (p.Arg1600Leu)
c.4859G>T (p.Arg1620Leu)
 ClinVar dbSNP
17g.31265336_31265338delinsACCA915949674NF1c.634_636delinsAC (n.634_636delinsAC)
c.4814_4816delinsAC (p.Arg1605HisfsTer13)
n.938_940delinsAC
c.823_825delinsAC
n.1477_1479delinsAC
c.4862_4864delinsAC (p.Arg1621HisfsTer13)
c.4832_4834delinsAC (p.Arg1611HisfsTer13)
c.4769_4771delinsAC (p.Arg1590HisfsTer13)
c.3767_3769delinsAC (p.Arg1256HisfsTer13)
n.3305_3307delinsAC
c.4871_4873delinsAC (p.Arg1624HisfsTer9)
c.4823_4825delinsAC (p.Arg1608HisfsTer13)
c.4799_4801delinsAC (p.Arg1600HisfsTer13)
c.4862_4864delinsAC (p.Arg1621HisfsTer?)
c.4859_4861delinsAC (p.Arg1620HisfsTer13)
 ClinVar dbSNP
17g.31265337G>ACA499234208NF1c.635G>A (n.635G>A)
c.4815G>A (p.Arg1605=)
n.939G>A
c.824G>A
n.1478G>A
c.4863G>A (p.Arg1621=)
c.4833G>A (p.Arg1611=)
c.4770G>A (p.Arg1590=)
c.3768G>A (p.Arg1256=)
n.3306G>A
c.4872G>A (p.Arg1624=)
c.4824G>A (p.Arg1608=)
c.4800G>A (p.Arg1600=)
c.4860G>A (p.Arg1620=)
 dbSNP gnomAD v4
17g.31265337G>CCA499234207NF1c.635G>C (n.635G>C)
c.4815G>C (p.Arg1605=)
n.939G>C
c.824G>C
n.1478G>C
c.4863G>C (p.Arg1621=)
c.4833G>C (p.Arg1611=)
c.4770G>C (p.Arg1590=)
c.3768G>C (p.Arg1256=)
n.3306G>C
c.4872G>C (p.Arg1624=)
c.4824G>C (p.Arg1608=)
c.4800G>C (p.Arg1600=)
c.4860G>C (p.Arg1620=)
 dbSNP
17g.31265337G>TCA499234206NF1c.635G>T (n.635G>T)
c.4815G>T (p.Arg1605=)
n.939G>T
c.824G>T
n.1478G>T
c.4863G>T (p.Arg1621=)
c.4833G>T (p.Arg1611=)
c.4770G>T (p.Arg1590=)
c.3768G>T (p.Arg1256=)
n.3306G>T
c.4872G>T (p.Arg1624=)
c.4824G>T (p.Arg1608=)
c.4800G>T (p.Arg1600=)
c.4860G>T (p.Arg1620=)
17g.31265338A=CA2255579006NF1c.636A= (n.636A=)
c.4816A= (p.Arg1606=)
n.940A=
c.825A=
n.1479A=
c.4864A= (p.Arg1622=)
c.4834A= (p.Arg1612=)
c.4771A= (p.Arg1591=)
c.3769A= (p.Arg1257=)
n.3307A=
c.4873A= (p.Arg1625=)
c.4825A= (p.Arg1609=)
c.4801A= (p.Arg1601=)
c.4861A= (p.Arg1621=)
17g.31265338A>CCA10583508NF1c.636A>C (n.636A>C)
c.4816A>C (p.Arg1606=)
n.940A>C
c.825A>C
n.1479A>C
c.4864A>C (p.Arg1622=)
c.4834A>C (p.Arg1612=)
c.4771A>C (p.Arg1591=)
c.3769A>C (p.Arg1257=)
n.3307A>C
c.4873A>C (p.Arg1625=)
c.4825A>C (p.Arg1609=)
c.4801A>C (p.Arg1601=)
c.4861A>C (p.Arg1621=)
 ClinVar dbSNP gnomAD v4
17g.31265338A>GCA399001387NF1c.636A>G (n.636A>G)
c.4816A>G (p.Arg1606Gly)
n.940A>G
c.825A>G
n.1479A>G
c.4864A>G (p.Arg1622Gly)
c.4834A>G (p.Arg1612Gly)
c.4771A>G (p.Arg1591Gly)
c.3769A>G (p.Arg1257Gly)
n.3307A>G
c.4873A>G (p.Arg1625Gly)
c.4825A>G (p.Arg1609Gly)
c.4801A>G (p.Arg1601Gly)
c.4861A>G (p.Arg1621Gly)
 ClinVar dbSNP
17g.31265338A>TCA399001388NF1c.636A>T (n.636A>T)
c.4816A>T (p.Arg1606Trp)
n.940A>T
c.825A>T
n.1479A>T
c.4864A>T (p.Arg1622Trp)
c.4834A>T (p.Arg1612Trp)
c.4771A>T (p.Arg1591Trp)
c.3769A>T (p.Arg1257Trp)
n.3307A>T
c.4873A>T (p.Arg1625Trp)
c.4825A>T (p.Arg1609Trp)
c.4801A>T (p.Arg1601Trp)
c.4861A>T (p.Arg1621Trp)
 ClinVar dbSNP
17g.31265339G>ACA399001389NF1c.637G>A (n.637G>A)
c.4817G>A (p.Arg1606Lys)
n.941G>A
c.826G>A
n.1480G>A
c.4865G>A (p.Arg1622Lys)
c.4835G>A (p.Arg1612Lys)
c.4772G>A (p.Arg1591Lys)
c.3770G>A (p.Arg1257Lys)
n.3308G>A
c.4874G>A (p.Arg1625Lys)
c.4826G>A (p.Arg1609Lys)
c.4802G>A (p.Arg1601Lys)
c.4862G>A (p.Arg1621Lys)
 ClinVar dbSNP
17g.31265339G>CCA399001390NF1c.637G>C (n.637G>C)
c.4817G>C (p.Arg1606Thr)
n.941G>C
c.826G>C
n.1480G>C
c.4865G>C (p.Arg1622Thr)
c.4835G>C (p.Arg1612Thr)
c.4772G>C (p.Arg1591Thr)
c.3770G>C (p.Arg1257Thr)
n.3308G>C
c.4874G>C (p.Arg1625Thr)
c.4826G>C (p.Arg1609Thr)
c.4802G>C (p.Arg1601Thr)
c.4862G>C (p.Arg1621Thr)
 ClinVar dbSNP gnomAD v4
17g.31265339G=CA2255579007NF1c.637G= (n.637G=)
c.4817G= (p.Arg1606=)
n.941G=
c.826G=
n.1480G=
c.4865G= (p.Arg1622=)
c.4835G= (p.Arg1612=)
c.4772G= (p.Arg1591=)
c.3770G= (p.Arg1257=)
n.3308G=
c.4874G= (p.Arg1625=)
c.4826G= (p.Arg1609=)
c.4802G= (p.Arg1601=)
c.4862G= (p.Arg1621=)
17g.31265339G>TCA399001391NF1c.637G>T (n.637G>T)
c.4817G>T (p.Arg1606Met)
n.941G>T
c.826G>T
n.1480G>T
c.4865G>T (p.Arg1622Met)
c.4835G>T (p.Arg1612Met)
c.4772G>T (p.Arg1591Met)
c.3770G>T (p.Arg1257Met)
n.3308G>T
c.4874G>T (p.Arg1625Met)
c.4826G>T (p.Arg1609Met)
c.4802G>T (p.Arg1601Met)
c.4862G>T (p.Arg1621Met)
 ClinVar dbSNP
17g.31265340G>ACA399001392NF1c.637+1G>A (n.637+1G>A)
c.4817+1G>A (n.4817+1G>A)
n.941+1G>A
c.826+1G>A
n.1480+1G>A
c.4865+1G>A (n.4865+1G>A)
c.4835+1G>A (n.4835+1G>A)
c.4772+1G>A (n.4772+1G>A)
c.3770+1G>A (n.3770+1G>A)
n.3308+1G>A
c.4874+1G>A (n.4874+1G>A)
c.4826+1G>A (n.4826+1G>A)
c.4802+1G>A (n.4802+1G>A)
c.4862+1G>A (n.4862+1G>A)
 ClinVar dbSNP gnomAD v4
17g.31265340G>CCA399001393NF1c.637+1G>C (n.637+1G>C)
c.4817+1G>C (n.4817+1G>C)
n.941+1G>C
c.826+1G>C
n.1480+1G>C
c.4865+1G>C (n.4865+1G>C)
c.4835+1G>C (n.4835+1G>C)
c.4772+1G>C (n.4772+1G>C)
c.3770+1G>C (n.3770+1G>C)
n.3308+1G>C
c.4874+1G>C (n.4874+1G>C)
c.4826+1G>C (n.4826+1G>C)
c.4802+1G>C (n.4802+1G>C)
c.4862+1G>C (n.4862+1G>C)
 ClinVar dbSNP
17g.31265340G=CA2255579008NF1c.637+1G= (n.637+1G=)
c.4817+1G= (n.4817+1G=)
n.941+1G=
c.826+1G=
n.1480+1G=
c.4865+1G= (n.4865+1G=)
c.4835+1G= (n.4835+1G=)
c.4772+1G= (n.4772+1G=)
c.3770+1G= (n.3770+1G=)
n.3308+1G=
c.4874+1G= (n.4874+1G=)
c.4826+1G= (n.4826+1G=)
c.4802+1G= (n.4802+1G=)
c.4862+1G= (n.4862+1G=)
17g.31265340G>TCA399001394NF1c.637+1G>T (n.637+1G>T)
c.4817+1G>T (n.4817+1G>T)
n.941+1G>T
c.826+1G>T
n.1480+1G>T
c.4865+1G>T (n.4865+1G>T)
c.4835+1G>T (n.4835+1G>T)
c.4772+1G>T (n.4772+1G>T)
c.3770+1G>T (n.3770+1G>T)
n.3308+1G>T
c.4874+1G>T (n.4874+1G>T)
c.4826+1G>T (n.4826+1G>T)
c.4802+1G>T (n.4802+1G>T)
c.4862+1G>T (n.4862+1G>T)
 ClinVar dbSNP
17g.31265340_31265348delCA2695225432NF1c.637+1_637+9del (n.637+1_637+9del)
c.4817+1_4817+9del (n.4817+1_4817+9del)
n.941+1_941+9del
c.826+1_826+9del
n.1480+1_1480+9del
c.4865+1_4865+9del (n.4865+1_4865+9del)
c.4835+1_4835+9del (n.4835+1_4835+9del)
c.4772+1_4772+9del (n.4772+1_4772+9del)
c.3770+1_3770+9del (n.3770+1_3770+9del)
n.3308+1_3308+9del
c.4874+1_4874+9del (n.4874+1_4874+9del)
c.4826+1_4826+9del (n.4826+1_4826+9del)
c.4802+1_4802+9del (n.4802+1_4802+9del)
c.4862+1_4862+9del (n.4862+1_4862+9del)
17g.31265340_31265350delCA2841510090NF1c.637+1_637+11del (n.637+1_637+11del)
c.4817+1_4817+11del (n.4817+1_4817+11del)
n.941+1_941+11del
c.826+1_826+11del
n.1480+1_1480+11del
c.4865+1_4865+11del (n.4865+1_4865+11del)
c.4835+1_4835+11del (n.4835+1_4835+11del)
c.4772+1_4772+11del (n.4772+1_4772+11del)
c.3770+1_3770+11del (n.3770+1_3770+11del)
n.3308+1_3308+11del
c.4874+1_4874+11del (n.4874+1_4874+11del)
c.4826+1_4826+11del (n.4826+1_4826+11del)
c.4802+1_4802+11del (n.4802+1_4802+11del)
c.4862+1_4862+11del (n.4862+1_4862+11del)
17g.31265341T>ACA399001395NF1c.637+2T>A (n.637+2T>A)
c.4817+2T>A (n.4817+2T>A)
n.941+2T>A
c.826+2T>A
n.1480+2T>A
c.4865+2T>A (n.4865+2T>A)
c.4835+2T>A (n.4835+2T>A)
c.4772+2T>A (n.4772+2T>A)
c.3770+2T>A (n.3770+2T>A)
n.3308+2T>A
c.4874+2T>A (n.4874+2T>A)
c.4826+2T>A (n.4826+2T>A)
c.4802+2T>A (n.4802+2T>A)
c.4862+2T>A (n.4862+2T>A)
 ClinVar dbSNP COSMIC
17g.31265341T>CCA399001396NF1c.637+2T>C (n.637+2T>C)
c.4817+2T>C (n.4817+2T>C)
n.941+2T>C
c.826+2T>C
n.1480+2T>C
c.4865+2T>C (n.4865+2T>C)
c.4835+2T>C (n.4835+2T>C)
c.4772+2T>C (n.4772+2T>C)
c.3770+2T>C (n.3770+2T>C)
n.3308+2T>C
c.4874+2T>C (n.4874+2T>C)
c.4826+2T>C (n.4826+2T>C)
c.4802+2T>C (n.4802+2T>C)
c.4862+2T>C (n.4862+2T>C)
 ClinVar dbSNP
17g.31265341T>GCA399001397NF1c.637+2T>G (n.637+2T>G)
c.4817+2T>G (n.4817+2T>G)
n.941+2T>G
c.826+2T>G
n.1480+2T>G
c.4865+2T>G (n.4865+2T>G)
c.4835+2T>G (n.4835+2T>G)
c.4772+2T>G (n.4772+2T>G)
c.3770+2T>G (n.3770+2T>G)
n.3308+2T>G
c.4874+2T>G (n.4874+2T>G)
c.4826+2T>G (n.4826+2T>G)
c.4802+2T>G (n.4802+2T>G)
c.4862+2T>G (n.4862+2T>G)
 ClinVar dbSNP
17g.31265341T=CA2255579009NF1c.637+2T= (n.637+2T=)
c.4817+2T= (n.4817+2T=)
n.941+2T=
c.826+2T=
n.1480+2T=
c.4865+2T= (n.4865+2T=)
c.4835+2T= (n.4835+2T=)
c.4772+2T= (n.4772+2T=)
c.3770+2T= (n.3770+2T=)
n.3308+2T=
c.4874+2T= (n.4874+2T=)
c.4826+2T= (n.4826+2T=)
c.4802+2T= (n.4802+2T=)
c.4862+2T= (n.4862+2T=)
17g.31265341_31265349delinsTAAGAAATACA2255579010NF1c.637+2_637+10delinsTAAGAAATA (n.637+2_637+10delinsTAAGAAATA)
c.4817+2_4817+10delinsTAAGAAATA (n.4817+2_4817+10delinsTAAGAAATA)
n.941+2_941+10delinsTAAGAAATA
c.826+2_826+10delinsTAAGAAATA
n.1480+2_1480+10delinsTAAGAAATA
c.4865+2_4865+10delinsTAAGAAATA (n.4865+2_4865+10delinsTAAGAAATA)
c.4835+2_4835+10delinsTAAGAAATA (n.4835+2_4835+10delinsTAAGAAATA)
c.4772+2_4772+10delinsTAAGAAATA (n.4772+2_4772+10delinsTAAGAAATA)
c.3770+2_3770+10delinsTAAGAAATA (n.3770+2_3770+10delinsTAAGAAATA)
n.3308+2_3308+10delinsTAAGAAATA
c.4874+2_4874+10delinsTAAGAAATA (n.4874+2_4874+10delinsTAAGAAATA)
c.4826+2_4826+10delinsTAAGAAATA (n.4826+2_4826+10delinsTAAGAAATA)
c.4802+2_4802+10delinsTAAGAAATA (n.4802+2_4802+10delinsTAAGAAATA)
c.4862+2_4862+10delinsTAAGAAATA (n.4862+2_4862+10delinsTAAGAAATA)
17g.31265342A=CA2255579012NF1c.637+3A= (n.637+3A=)
c.4817+3A= (n.4817+3A=)
n.941+3A=
c.826+3A=
n.1480+3A=
c.4865+3A= (n.4865+3A=)
c.4835+3A= (n.4835+3A=)
c.4772+3A= (n.4772+3A=)
c.3770+3A= (n.3770+3A=)
n.3308+3A=
c.4874+3A= (n.4874+3A=)
c.4826+3A= (n.4826+3A=)
c.4802+3A= (n.4802+3A=)
c.4862+3A= (n.4862+3A=)
17g.31265342A>GCA658798812NF1c.637+3A>G (n.637+3A>G)
c.4817+3A>G (n.4817+3A>G)
n.941+3A>G
c.826+3A>G
n.1480+3A>G
c.4865+3A>G (n.4865+3A>G)
c.4835+3A>G (n.4835+3A>G)
c.4772+3A>G (n.4772+3A>G)
c.3770+3A>G (n.3770+3A>G)
n.3308+3A>G
c.4874+3A>G (n.4874+3A>G)
c.4826+3A>G (n.4826+3A>G)
c.4802+3A>G (n.4802+3A>G)
c.4862+3A>G (n.4862+3A>G)
 ClinVar dbSNP
17g.31265342_31265349delinsTCA2255579011NF1c.637+3_637+10delinsT (n.637+3_637+10delinsT)
c.4817+3_4817+10delinsT (n.4817+3_4817+10delinsT)
n.941+3_941+10delinsT
c.826+3_826+10delinsT
n.1480+3_1480+10delinsT
c.4865+3_4865+10delinsT (n.4865+3_4865+10delinsT)
c.4835+3_4835+10delinsT (n.4835+3_4835+10delinsT)
c.4772+3_4772+10delinsT (n.4772+3_4772+10delinsT)
c.3770+3_3770+10delinsT (n.3770+3_3770+10delinsT)
n.3308+3_3308+10delinsT
c.4874+3_4874+10delinsT (n.4874+3_4874+10delinsT)
c.4826+3_4826+10delinsT (n.4826+3_4826+10delinsT)
c.4802+3_4802+10delinsT (n.4802+3_4802+10delinsT)
c.4862+3_4862+10delinsT (n.4862+3_4862+10delinsT)
 ClinVar dbSNP

Number of alleles fetched