Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.31265251_31265252dup | CA16615252 | NF1 | c.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 |
17 | g.31265251_31265252delinsGA | CA2255578950 | NF1 | c.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=) | |
17 | g.31265252A>C | CA399001199 | NF1 | c.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) | |
17 | g.31265252A>G | CA399001200 | NF1 | c.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) | |
17 | g.31265252A>T | CA399001201 | NF1 | c.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) | |
17 | g.31265253del | CA891843831 | NF1 | c.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 |
17 | g.31265254_31265258del | CA645582468 | NF1 | c.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 |
17 | g.31265253A= | CA2255578952 | NF1 | c.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=) | |
17 | g.31265253A>C | CA399001202 | NF1 | c.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) | |
17 | g.31265253A>G | CA189401 | NF1 | c.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 |
17 | g.31265253A>T | CA399001203 | NF1 | c.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 |
17 | g.31265254T>A | CA399001204 | NF1 | c.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 |
17 | g.31265254T>C | CA399001205 | NF1 | c.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) | |
17 | g.31265254T>G | CA399001206 | NF1 | c.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) | |
17 | g.31265255del | CA2573153669 | NF1 | c.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 |
17 | g.31265255T>A | CA399001209 | NF1 | c.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) | |
17 | g.31265255T>C | CA399001208 | NF1 | c.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) | |
17 | g.31265255T>G | CA399001207 | NF1 | c.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) | |
17 | g.31265255_31265257del | CA2573153670 | NF1 | c.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 |
17 | g.31265255_31265256insAA | CA2695225418 | NF1 | c.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) | |
17 | g.31265256C>A | CA399001210 | NF1 | c.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 |
17 | g.31265256C= | CA2255578953 | NF1 | c.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=) | |
17 | g.31265256C>G | CA399001211 | NF1 | c.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 |
17 | g.31265256C>T | CA10577033 | NF1 | c.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 |
17 | g.31265256_31265273delinsCAAGGCTTTGAAAACGTT | CA2255578954 | NF1 | c.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=) | |
17 | g.31265257A= | CA2255578955 | NF1 | c.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=) | |
17 | g.31265257A>C | CA399001212 | NF1 | c.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) | |
17 | g.31265257A>G | CA399001214 | NF1 | c.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) | |
17 | g.31265257A>T | CA399001213 | NF1 | c.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 |
17 | g.31265258del | CA2695225419 | NF1 | c.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) | |
17 | g.31265260_31265276del | CA915949670 | NF1 | c.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 |
17 | g.31265258A>C | CA399001215 | NF1 | c.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) | |
17 | g.31265258A>G | CA399001217 | NF1 | c.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 |
17 | g.31265258A>T | CA399001216 | NF1 | c.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) | |
17 | g.31265259G>A | CA499234115 | NF1 | c.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 |
17 | g.31265259G>C | CA399001218 | NF1 | c.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 |
17 | g.31265259G>T | CA399001219 | NF1 | c.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) | |
17 | g.31265260dup | CA499234116 | NF1 | c.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 |
17 | g.31265260G>A | CA399001220 | NF1 | c.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 |
17 | g.31265260G>C | CA399001221 | NF1 | c.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) | |
17 | g.31265260G= | CA2255578956 | NF1 | c.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=) | |
17 | g.31265260G>T | CA8486472 | NF1 | c.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 |
17 | g.31265261C>A | CA399001222 | NF1 | c.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) | |
17 | g.31265261C>G | CA399001223 | NF1 | c.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 |
17 | g.31265261C>T | CA399001224 | NF1 | c.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) | |
17 | g.31265262T>A | CA499234118 | NF1 | c.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 |
17 | g.31265262T>C | CA499234119 | NF1 | c.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=) | |
17 | g.31265262T>G | CA499234120 | NF1 | c.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=) | |
17 | g.31265264del | CA2573153671 | NF1 | c.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 |
17 | g.31265263_31265264del | CA2695225420 | NF1 | c.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?) | |
17 | g.31265263T>A | CA399001225 | NF1 | c.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) | |
17 | g.31265263T>C | CA499234121 | NF1 | c.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=) | |
17 | g.31265263T>G | CA399001226 | NF1 | c.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) | |
17 | g.31265264T>A | CA399001229 | NF1 | c.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 |
17 | g.31265264T>C | CA399001228 | NF1 | c.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 |
17 | g.31265264T>G | CA399001227 | NF1 | c.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) | |
17 | g.31265264_31265265insA | CA2695225421 | NF1 | c.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?) | |
17 | g.31265265G>A | CA499234125 | NF1 | c.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 |
17 | g.31265265G>C | CA399001230 | NF1 | c.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 |
17 | g.31265265G>T | CA399001231 | NF1 | c.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) | |
17 | g.31265265_31265266delinsGA | CA2255578957 | NF1 | c.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=) | |
17 | g.31265266A= | CA2255578958 | NF1 | c.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=) | |
17 | g.31265266A>C | CA399001232 | NF1 | c.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) | |
17 | g.31265266A>G | CA399001233 | NF1 | c.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 |
17 | g.31265266A>T | CA399001234 | NF1 | c.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 |
17 | g.31265269dup | CA2580093336 | NF1 | c.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 |
17 | g.31265269del | CA645369647 | NF1 | c.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 |
17 | g.31265268_31265275del | CA2695225422 | NF1 | c.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?) | |
17 | g.31265267A>C | CA399001235 | NF1 | c.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) | |
17 | g.31265267A>G | CA399001236 | NF1 | c.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) | |
17 | g.31265267A>T | CA399001237 | NF1 | c.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 |
17 | g.31265268A>C | CA399001238 | NF1 | c.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) | |
17 | g.31265268A>G | CA499234127 | NF1 | c.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=) | |
17 | g.31265268A>T | CA399001239 | NF1 | c.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 |
17 | g.31265269A= | CA2255578959 | NF1 | c.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=) | |
17 | g.31265269A>C | CA399001242 | NF1 | c.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 |
17 | g.31265269A>G | CA399001241 | NF1 | c.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 |
17 | g.31265269A>T | CA399001240 | NF1 | c.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) | |
17 | g.31265270del | CA2695225423 | NF1 | c.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) | |
17 | g.31265270C>A | CA399001243 | NF1 | c.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) | |
17 | g.31265270C= | CA2255578960 | NF1 | c.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=) | |
17 | g.31265270C>G | CA399001244 | NF1 | c.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 |
17 | g.31265270C>T | CA335711 | NF1 | c.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 |
17 | g.31265271G>A | CA8486473 | NF1 | c.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 |
17 | g.31265271G>C | CA499234133 | NF1 | c.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 |
17 | g.31265271G= | CA2255578961 | NF1 | c.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=) | |
17 | g.31265271G>T | CA499234134 | NF1 | c.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=) | |
17 | g.31265271_31265279delinsGTTAAGTAT | CA2255578962 | NF1 | c.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=) | |
17 | g.31265272T>A | CA399001245 | NF1 | c.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 |
17 | g.31265272T>C | CA499234135 | NF1 | c.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=) | |
17 | g.31265272T>G | CA399001246 | NF1 | c.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 |
17 | g.31265272T= | CA2255578963 | NF1 | c.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=) | |
17 | g.31265274_31265281del | CA658798809 | NF1 | c.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 |
17 | g.31265273T>A | CA399001247 | NF1 | c.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 |
17 | g.31265273T>C | CA399001248 | NF1 | c.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 |
17 | g.31265273T>G | CA399001249 | NF1 | c.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 |
17 | g.31265273T= | CA2255578964 | NF1 | c.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=) | |
17 | g.31265273_31265275delinsTAA | CA2255578965 | NF1 | c.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=) | |
17 | g.31265274A= | CA2255578967 | NF1 | c.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=) | |
17 | g.31265274A>C | CA399001250 | NF1 | c.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 |
17 | g.31265274A>G | CA499234141 | NF1 | c.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 |
17 | g.31265274A>T | CA399001251 | NF1 | c.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 |
17 | g.31265274_31265275del | CA2580093339 | NF1 | c.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 |
17 | g.31265274_31265275delinsT | CA2255578966 | NF1 | c.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 |
17 | g.31265275dup | CA2739267414 | NF1 | c.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 |
17 | g.31265275A>C | CA399001254 | NF1 | c.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) | |
17 | g.31265275A>G | CA399001253 | NF1 | c.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) | |
17 | g.31265275A>T | CA399001252 | NF1 | c.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 |
17 | g.31265276del | CA2739267415 | NF1 | c.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 |
17 | g.31265276G>A | CA399001255 | NF1 | c.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 |
17 | g.31265276G>C | CA399001256 | NF1 | c.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 |
17 | g.31265276G= | CA2255578968 | NF1 | c.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=) | |
17 | g.31265276G>T | CA399001257 | NF1 | c.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 |
17 | g.31265276_31265280del | CA645582469 | NF1 | c.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 |
17 | g.31265277T>A | CA399001258 | NF1 | c.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 |
17 | g.31265277T>C | CA499234144 | NF1 | c.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 |
17 | g.31265277T>G | CA399001259 | NF1 | c.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 |
17 | g.31265278_31265281dup | CA2580093342 | NF1 | c.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 |
17 | g.31265278A= | CA2255578970 | NF1 | c.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=) | |
17 | g.31265278A>C | CA399001260 | NF1 | c.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) | |
17 | g.31265278A>G | CA399001261 | NF1 | c.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 |
17 | g.31265278A>T | CA399001262 | NF1 | c.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) | |
17 | g.31265278_31265279delinsAT | CA2255578969 | NF1 | c.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=) | |
17 | g.31265279T>A | CA399001263 | NF1 | c.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 |
17 | g.31265279T>C | CA8486474 | NF1 | c.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 |
17 | g.31265279T>G | CA399001264 | NF1 | c.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) | |
17 | g.31265279T= | CA2255578971 | NF1 | c.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=) | |
17 | g.31265282del | CA1139665377 | NF1 | c.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 |
17 | g.31265281_31265282del | CA2695225424 | NF1 | c.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) | |
17 | g.31265280T>A | CA499234146 | NF1 | c.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 |
17 | g.31265280T>C | CA499234148 | NF1 | c.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 |
17 | g.31265280T>G | CA399001265 | NF1 | c.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) | |
17 | g.31265280T= | CA2255578972 | NF1 | c.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=) | |
17 | g.31265281T>A | CA399001267 | NF1 | c.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) | |
17 | g.31265281T>C | CA399001268 | NF1 | c.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) | |
17 | g.31265281T>G | CA399001266 | NF1 | c.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) | |
17 | g.31265282T>A | CA399001271 | NF1 | c.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) | |
17 | g.31265282T>C | CA399001269 | NF1 | c.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 |
17 | g.31265282T>G | CA399001270 | NF1 | c.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) | |
17 | g.31265283C>A | CA399001272 | NF1 | c.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 |
17 | g.31265283C>G | CA399001273 | NF1 | c.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 |
17 | g.31265283C>T | CA499234154 | NF1 | c.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 |
17 | g.31265284T>A | CA399001274 | NF1 | c.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 |
17 | g.31265284T>C | CA399001275 | NF1 | c.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) | |
17 | g.31265284T>G | CA399001276 | NF1 | c.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) | |
17 | g.31265285A= | CA2255578973 | NF1 | c.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=) | |
17 | g.31265285A>C | CA399001277 | NF1 | c.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) | |
17 | g.31265285A>G | CA16615251 | NF1 | c.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 |
17 | g.31265285A>T | CA399001278 | NF1 | c.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 |
17 | g.31265285_31265286delinsAC | CA2255578974 | NF1 | c.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=) | |
17 | g.31265285_31265286dup | CA2695225425 | NF1 | c.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) | |
17 | g.31265286C>A | CA399001279 | NF1 | c.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 |
17 | g.31265286C>G | CA399001280 | NF1 | c.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 |
17 | g.31265286C>T | CA499234158 | NF1 | c.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 |
17 | g.31265287del | CA658824481 | NF1 | c.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 |
17 | g.31265287C>A | CA399001283 | NF1 | c.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 |
17 | g.31265287C= | CA2255578975 | NF1 | c.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=) | |
17 | g.31265287C>G | CA399001281 | NF1 | c.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) | |
17 | g.31265287C>T | CA399001282 | NF1 | c.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 |
17 | g.31265288A>C | CA399001284 | NF1 | c.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) | |
17 | g.31265288A>G | CA399001285 | NF1 | c.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 |
17 | g.31265288A>T | CA399001286 | NF1 | c.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) | |
17 | g.31265297_31265311del | CA2695201278 | NF1 | c.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 |
17 | g.31265289A>C | CA399001287 | NF1 | c.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 |
17 | g.31265289A>G | CA499234161 | NF1 | c.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=) | |
17 | g.31265289A>T | CA399001288 | NF1 | c.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 |
17 | g.31265290G>A | CA399001289 | NF1 | c.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 |
17 | g.31265290G>C | CA399001290 | NF1 | c.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 |
17 | g.31265290G>T | CA399001291 | NF1 | c.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) | |
17 | g.31265291_31265294dup | CA2580093349 | NF1 | c.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 |
17 | g.31265291C>A | CA399001292 | NF1 | c.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 |
17 | g.31265291C= | CA2255578976 | NF1 | c.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=) | |
17 | g.31265291C>G | CA399001293 | NF1 | c.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 |
17 | g.31265291C>T | CA399001294 | NF1 | c.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 |
17 | g.31265292T>A | CA499234164 | NF1 | c.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=) | |
17 | g.31265292T>C | CA499234165 | NF1 | c.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=) | |
17 | g.31265292T>G | CA499234166 | NF1 | c.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=) | |
17 | g.31265292_31265293delinsTG | CA2255578977 | NF1 | c.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=) | |
17 | g.31265293G>A | CA399001296 | NF1 | c.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 |
17 | g.31265293G>C | CA399001297 | NF1 | c.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) | |
17 | g.31265293G>T | CA399001295 | NF1 | c.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) | |
17 | g.31265295dup | CA658684014 | NF1 | c.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 |
17 | g.31265295del | CA728030602 | NF1 | c.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 |
17 | g.31265294G>A | CA399001298 | NF1 | c.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 |
17 | g.31265294G>C | CA399001299 | NF1 | c.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 |
17 | g.31265294G= | CA2255578978 | NF1 | c.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=) | |
17 | g.31265294G>T | CA399001300 | NF1 | c.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 |
17 | g.31265295G>A | CA499234168 | NF1 | c.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 |
17 | g.31265295G>C | CA499234170 | NF1 | c.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 |
17 | g.31265295G= | CA2255578979 | NF1 | c.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=) | |
17 | g.31265295G>T | CA499234169 | NF1 | c.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 |
17 | g.31265296del | CA499234173 | NF1 | c.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 |
17 | g.31265296A>C | CA399001301 | NF1 | c.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) | |
17 | g.31265296A>G | CA399001302 | NF1 | c.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 |
17 | g.31265296A>T | CA399001303 | NF1 | c.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 |
17 | g.31265297C>A | CA8486475 | NF1 | c.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 |
17 | g.31265297C= | CA2255578980 | NF1 | c.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=) | |
17 | g.31265297C>G | CA399001304 | NF1 | c.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 |
17 | g.31265297C>T | CA399001305 | NF1 | c.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) | |
17 | g.31265297_31265306del | CA2580093354 | NF1 | c.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 |
17 | g.31265298T>A | CA499234174 | NF1 | c.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 |
17 | g.31265298T>C | CA499234175 | NF1 | c.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 |
17 | g.31265298T>G | CA499234176 | NF1 | c.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=) | |
17 | g.31265299T>A | CA399001306 | NF1 | c.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) | |
17 | g.31265299T>C | CA399001307 | NF1 | c.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 |
17 | g.31265299T>G | CA399001308 | NF1 | c.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) | |
17 | g.31265300C>A | CA399001310 | NF1 | c.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 |
17 | g.31265300C= | CA2255578981 | NF1 | c.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=) | |
17 | g.31265300C>G | CA399001311 | NF1 | c.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 |
17 | g.31265300C>T | CA399001309 | NF1 | c.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 |
17 | g.31265301del | CA658761110 | NF1 | c.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) | |
17 | g.31265300_31265301insG | CA1139665378 | NF1 | c.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 |
17 | g.31265301C>A | CA499234177 | NF1 | c.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 |
17 | g.31265301C>G | CA499234178 | NF1 | c.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 |
17 | g.31265301C>T | CA499234179 | NF1 | c.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=) | |
17 | g.31265302A= | CA2255578982 | NF1 | c.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=) | |
17 | g.31265302A>C | CA399001312 | NF1 | c.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) | |
17 | g.31265302A>G | CA399001313 | NF1 | c.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) | |
17 | g.31265302A>T | CA399001314 | NF1 | c.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 |
17 | g.31265303A>C | CA399001315 | NF1 | c.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) | |
17 | g.31265303A>G | CA399001316 | NF1 | c.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 |
17 | g.31265303A>T | CA399001317 | NF1 | c.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 |
17 | g.31265304A= | CA2255578983 | NF1 | c.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=) | |
17 | g.31265304A>C | CA399001319 | NF1 | c.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) | |
17 | g.31265304A>G | CA499234180 | NF1 | c.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 |
17 | g.31265304A>T | CA399001318 | NF1 | c.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) | |
17 | g.31265305G>A | CA8486476 | NF1 | c.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 |
17 | g.31265305G>C | CA399001320 | NF1 | c.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 |
17 | g.31265305G= | CA2255578984 | NF1 | c.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=) | |
17 | g.31265305G>T | CA399001321 | NF1 | c.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) | |
17 | g.31265305_31265306insA | CA2739267416 | NF1 | c.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 |
17 | g.31265306C>A | CA399001322 | NF1 | c.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 |
17 | g.31265306C>G | CA399001323 | NF1 | c.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 |
17 | g.31265306C>T | CA399001324 | NF1 | c.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) | |
17 | g.31265307T>A | CA499234181 | NF1 | c.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=) | |
17 | g.31265307T>C | CA192424 | NF1 | c.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 |
17 | g.31265307T>G | CA499234182 | NF1 | c.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 |
17 | g.31265307T= | CA2255578985 | NF1 | c.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=) | |
17 | g.31265308G>A | CA10583507 | NF1 | c.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 |
17 | g.31265308G>C | CA399001326 | NF1 | c.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 |
17 | g.31265308G= | CA2255578986 | NF1 | c.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=) | |
17 | g.31265308G>T | CA399001325 | NF1 | c.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) | |
17 | g.31265310dup | CA499234183 | NF1 | c.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 |
17 | g.31265310del | CA499234184 | NF1 | c.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 |
17 | g.31265309G>A | CA399001328 | NF1 | c.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 |
17 | g.31265309G>C | CA399001327 | NF1 | c.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 |
17 | g.31265309G>T | CA399001329 | NF1 | c.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 |
17 | g.31265312_31265338del | CA2695225426 | NF1 | c.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) | |
17 | g.31265310G>A | CA499234185 | NF1 | c.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 |
17 | g.31265310G>C | CA499234186 | NF1 | c.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 |
17 | g.31265310G= | CA2255578987 | NF1 | c.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=) | |
17 | g.31265310G>T | CA499234188 | NF1 | c.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 |
17 | g.31265311A>C | CA399001330 | NF1 | c.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) | |
17 | g.31265311A>G | CA399001331 | NF1 | c.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) | |
17 | g.31265311A>T | CA399001332 | NF1 | c.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 |
17 | g.31265312del | CA2695225427 | NF1 | c.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) | |
17 | g.31265312A= | CA2255578988 | NF1 | c.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=) | |
17 | g.31265312A>C | CA399001333 | NF1 | c.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) | |
17 | g.31265312A>G | CA399001334 | NF1 | c.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 |
17 | g.31265312A>T | CA399001335 | NF1 | c.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 |
17 | g.31265313T>A | CA399001336 | NF1 | c.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) | |
17 | g.31265313T>C | CA499234189 | NF1 | c.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 |
17 | g.31265313T>G | CA399001337 | NF1 | c.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) | |
17 | g.31265313T= | CA2255578989 | NF1 | c.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=) | |
17 | g.31265314C>A | CA399001338 | NF1 | c.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) | |
17 | g.31265314C>G | CA399001339 | NF1 | c.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 |
17 | g.31265314C>T | CA399001340 | NF1 | c.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 |
17 | g.31265315C>A | CA399001343 | NF1 | c.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 |
17 | g.31265315C= | CA2255578990 | NF1 | c.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=) | |
17 | g.31265315C>G | CA399001342 | NF1 | c.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 |
17 | g.31265315C>T | CA399001341 | NF1 | c.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 |
17 | g.31265316T>A | CA499234191 | NF1 | c.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=) | |
17 | g.31265316T>C | CA499234193 | NF1 | c.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 |
17 | g.31265316T>G | CA499234192 | NF1 | c.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=) | |
17 | g.31265316dup | CA645582470 | NF1 | c.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 |
17 | g.31265316_31265318delinsA | CA2697559540 | NF1 | c.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 |
17 | g.31265317A= | CA2255578991 | NF1 | c.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=) | |
17 | g.31265317A>C | CA399001344 | NF1 | c.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) | |
17 | g.31265317A>G | CA219599 | NF1 | c.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 |
17 | g.31265317A>T | CA399001345 | NF1 | c.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 |
17 | g.31265317_31265318delinsAT | CA2255578992 | NF1 | c.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=) | |
17 | g.31265318T>A | CA399001346 | NF1 | c.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 |
17 | g.31265318T>C | CA399001347 | NF1 | c.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) | |
17 | g.31265318T>G | CA399001348 | NF1 | c.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) | |
17 | g.31265323dup | CA10580326 | NF1 | c.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 |
17 | g.31265323del | CA499234194 | NF1 | c.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 |
17 | g.31265319T>A | CA499234195 | NF1 | c.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 |
17 | g.31265319T>C | CA499234196 | NF1 | c.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 |
17 | g.31265319T>G | CA399001349 | NF1 | c.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) | |
17 | g.31265319_31265324delinsTTTTTA | CA2255578993 | NF1 | c.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=) | |
17 | g.31265320T>A | CA399001350 | NF1 | c.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) | |
17 | g.31265320T>C | CA399001351 | NF1 | c.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 |
17 | g.31265320T>G | CA399001352 | NF1 | c.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) | |
17 | g.31265322_31265326del | CA658684015 | NF1 | c.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 |
17 | g.31265321T>A | CA399001353 | NF1 | c.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) | |
17 | g.31265321T>C | CA399001354 | NF1 | c.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 |
17 | g.31265321T>G | CA399001355 | NF1 | c.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) | |
17 | g.31265322T>A | CA399001357 | NF1 | c.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) | |
17 | g.31265322T>C | CA499234197 | NF1 | c.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=) | |
17 | g.31265322T>G | CA399001356 | NF1 | c.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) | |
17 | g.31265326_31265328del | CA2576223434 | NF1 | c.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 |
17 | g.31265323T>A | CA399001358 | NF1 | c.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) | |
17 | g.31265323T>C | CA399001359 | NF1 | c.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) | |
17 | g.31265323T>G | CA399001360 | NF1 | c.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) | |
17 | g.31265324A>C | CA399001361 | NF1 | c.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) | |
17 | g.31265324A>G | CA399001362 | NF1 | c.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 |
17 | g.31265324A>T | CA399001363 | NF1 | c.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 |
17 | g.31265325T>A | CA399001364 | NF1 | c.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 |
17 | g.31265325T>C | CA499234198 | NF1 | c.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 |
17 | g.31265325T>G | CA399001365 | NF1 | c.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 |
17 | g.31265325T= | CA2255578994 | NF1 | c.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=) | |
17 | g.31265326del | CA2695225428 | NF1 | c.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) | |
17 | g.31265326T>A | CA399001366 | NF1 | c.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) | |
17 | g.31265326T>C | CA399001367 | NF1 | c.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 |
17 | g.31265326T>G | CA399001368 | NF1 | c.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 |
17 | g.31265326T= | CA2255578995 | NF1 | c.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=) | |
17 | g.31265327A= | CA2255578996 | NF1 | c.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=) | |
17 | g.31265327A>C | CA399001369 | NF1 | c.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 |
17 | g.31265327A>G | CA399001370 | NF1 | c.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 |
17 | g.31265327A>T | CA399001371 | NF1 | c.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) | |
17 | g.31265328del | CA2499224152 | NF1 | c.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 |
17 | g.31265328T>A | CA399001372 | NF1 | c.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 |
17 | g.31265328T>C | CA499234199 | NF1 | c.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 |
17 | g.31265328T>G | CA399001373 | NF1 | c.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 |
17 | g.31265328T= | CA2255578997 | NF1 | c.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=) | |
17 | g.31265329G>A | CA10580327 | NF1 | c.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 |
17 | g.31265329G>C | CA399001374 | NF1 | c.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 |
17 | g.31265329G= | CA2255578998 | NF1 | c.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=) | |
17 | g.31265329G>T | CA399001375 | NF1 | c.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) | |
17 | g.31265330T>A | CA399001376 | NF1 | c.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 |
17 | g.31265330T>C | CA10580328 | NF1 | c.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 |
17 | g.31265330T>G | CA399001377 | NF1 | c.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) | |
17 | g.31265330T= | CA2255578999 | NF1 | c.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=) | |
17 | g.31265331T>A | CA499234200 | NF1 | c.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=) | |
17 | g.31265331T>C | CA499234201 | NF1 | c.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 |
17 | g.31265331T>G | CA499234202 | NF1 | c.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=) | |
17 | g.31265331T= | CA2255579000 | NF1 | c.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=) | |
17 | g.31265332G>A | CA399001378 | NF1 | c.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 |
17 | g.31265332G>C | CA399001379 | NF1 | c.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) | |
17 | g.31265332G= | CA2255579001 | NF1 | c.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=) | |
17 | g.31265332G>T | CA399001380 | NF1 | c.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 |
17 | g.31265332dup | CA658798811 | NF1 | c.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 |
17 | g.31265333_31265336del | CA2695225429 | NF1 | c.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) | |
17 | g.31265333C>A | CA399001381 | NF1 | c.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 |
17 | g.31265333C>G | CA399001382 | NF1 | c.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 |
17 | g.31265333C>T | CA399001383 | NF1 | c.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 |
17 | g.31265334A= | CA2255579002 | NF1 | c.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=) | |
17 | g.31265334A>C | CA499234203 | NF1 | c.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=) | |
17 | g.31265334A>G | CA8486477 | NF1 | c.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 |
17 | g.31265334A>T | CA499234204 | NF1 | c.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 |
17 | g.31265334_31265336delinsCT | CA2695225430 | NF1 | c.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) | |
17 | g.31265335del | CA2695225431 | NF1 | c.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) | |
17 | g.31265335C>A | CA499234205 | NF1 | c.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 |
17 | g.31265335C= | CA2255579004 | NF1 | c.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=) | |
17 | g.31265335C>G | CA399001384 | NF1 | c.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) | |
17 | g.31265335C>T | CA16615259 | NF1 | c.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 |
17 | g.31265335_31265338delinsCGGA | CA2255579003 | NF1 | c.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=) | |
17 | g.31265336G>A | CA10580329 | NF1 | c.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 |
17 | g.31265336G>C | CA399001386 | NF1 | c.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 |
17 | g.31265336G= | CA2255579005 | NF1 | c.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=) | |
17 | g.31265336G>T | CA399001385 | NF1 | c.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 |
17 | g.31265336_31265338delinsAC | CA915949674 | NF1 | c.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 |
17 | g.31265337G>A | CA499234208 | NF1 | c.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 |
17 | g.31265337G>C | CA499234207 | NF1 | c.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 |
17 | g.31265337G>T | CA499234206 | NF1 | c.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=) | |
17 | g.31265338A= | CA2255579006 | NF1 | c.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=) | |
17 | g.31265338A>C | CA10583508 | NF1 | c.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 |
17 | g.31265338A>G | CA399001387 | NF1 | c.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 |
17 | g.31265338A>T | CA399001388 | NF1 | c.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 |
17 | g.31265339G>A | CA399001389 | NF1 | c.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 |
17 | g.31265339G>C | CA399001390 | NF1 | c.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 |
17 | g.31265339G= | CA2255579007 | NF1 | c.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=) | |
17 | g.31265339G>T | CA399001391 | NF1 | c.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 |
17 | g.31265340G>A | CA399001392 | NF1 | c.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 |
17 | g.31265340G>C | CA399001393 | NF1 | c.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 |
17 | g.31265340G= | CA2255579008 | NF1 | c.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=) | |
17 | g.31265340G>T | CA399001394 | NF1 | c.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 |
17 | g.31265340_31265348del | CA2695225432 | NF1 | c.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) | |
17 | g.31265340_31265350del | CA2841510090 | NF1 | c.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) | |
17 | g.31265341T>A | CA399001395 | NF1 | c.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 |
17 | g.31265341T>C | CA399001396 | NF1 | c.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 |
17 | g.31265341T>G | CA399001397 | NF1 | c.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 |
17 | g.31265341T= | CA2255579009 | NF1 | c.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=) | |
17 | g.31265341_31265349delinsTAAGAAATA | CA2255579010 | NF1 | c.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) | |
17 | g.31265342A= | CA2255579012 | NF1 | c.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=) | |
17 | g.31265342A>G | CA658798812 | NF1 | c.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 |
17 | g.31265342_31265349delinsT | CA2255579011 | NF1 | c.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 |
17 | g.31265343A>C | CA2580093366 | NF1 | c.637+4A>C (n.637+4A>C) c.4817+4A>C (n.4817+4A>C) n.941+4A>C c.826+4A>C n.1480+4A>C c.4865+4A>C (n.4865+4A>C) c.4835+4A>C (n.4835+4A>C) c.4772+4A>C (n.4772+4A>C) c.3770+4A>C (n.3770+4A>C) n.3308+4A>C c.4874+4A>C (n.4874+4A>C) c.4826+4A>C (n.4826+4A>C) c.4802+4A>C (n.4802+4A>C) c.4862+4A>C (n.4862+4A>C) | ClinVar |
17 | g.31265343A>G | CA2580093368 | NF1 | c.637+4A>G (n.637+4A>G) c.4817+4A>G (n.4817+4A>G) n.941+4A>G c.826+4A>G n.1480+4A>G c.4865+4A>G (n.4865+4A>G) c.4835+4A>G (n.4835+4A>G) c.4772+4A>G (n.4772+4A>G) c.3770+4A>G (n.3770+4A>G) n.3308+4A>G c.4874+4A>G (n.4874+4A>G) c.4826+4A>G (n.4826+4A>G) c.4802+4A>G (n.4802+4A>G) c.4862+4A>G (n.4862+4A>G) | ClinVar |
17 | g.31265344G>A | CA2733212577 | NF1 | c.637+5G>A (n.637+5G>A) c.4817+5G>A (n.4817+5G>A) n.941+5G>A c.826+5G>A n.1480+5G>A c.4865+5G>A (n.4865+5G>A) c.4835+5G>A (n.4835+5G>A) c.4772+5G>A (n.4772+5G>A) c.3770+5G>A (n.3770+5G>A) n.3308+5G>A c.4874+5G>A (n.4874+5G>A) c.4826+5G>A (n.4826+5G>A) c.4802+5G>A (n.4802+5G>A) c.4862+5G>A (n.4862+5G>A) | dbSNP |
17 | g.31265344G>C | CA188009 | NF1 | c.637+5G>C (n.637+5G>C) c.4817+5G>C (n.4817+5G>C) n.941+5G>C c.826+5G>C n.1480+5G>C c.4865+5G>C (n.4865+5G>C) c.4835+5G>C (n.4835+5G>C) c.4772+5G>C (n.4772+5G>C) c.3770+5G>C (n.3770+5G>C) n.3308+5G>C c.4874+5G>C (n.4874+5G>C) c.4826+5G>C (n.4826+5G>C) c.4802+5G>C (n.4802+5G>C) c.4862+5G>C (n.4862+5G>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.31265344G= | CA2255579013 | NF1 | c.637+5G= (n.637+5G=) c.4817+5G= (n.4817+5G=) n.941+5G= c.826+5G= n.1480+5G= c.4865+5G= (n.4865+5G=) c.4835+5G= (n.4835+5G=) c.4772+5G= (n.4772+5G=) c.3770+5G= (n.3770+5G=) n.3308+5G= c.4874+5G= (n.4874+5G=) c.4826+5G= (n.4826+5G=) c.4802+5G= (n.4802+5G=) c.4862+5G= (n.4862+5G=) | |
17 | g.31265346A>G | CA2733614038 | NF1 | c.637+7A>G (n.637+7A>G) c.4817+7A>G (n.4817+7A>G) n.941+7A>G c.826+7A>G n.1480+7A>G c.4865+7A>G (n.4865+7A>G) c.4835+7A>G (n.4835+7A>G) c.4772+7A>G (n.4772+7A>G) c.3770+7A>G (n.3770+7A>G) n.3308+7A>G c.4874+7A>G (n.4874+7A>G) c.4826+7A>G (n.4826+7A>G) c.4802+7A>G (n.4802+7A>G) c.4862+7A>G (n.4862+7A>G) | dbSNP |
17 | g.31265347A>G | CA2637080144 | NF1 | c.637+8A>G (n.637+8A>G) c.4817+8A>G (n.4817+8A>G) n.941+8A>G c.826+8A>G n.1480+8A>G c.4865+8A>G (n.4865+8A>G) c.4835+8A>G (n.4835+8A>G) c.4772+8A>G (n.4772+8A>G) c.3770+8A>G (n.3770+8A>G) n.3308+8A>G c.4874+8A>G (n.4874+8A>G) c.4826+8A>G (n.4826+8A>G) c.4802+8A>G (n.4802+8A>G) c.4862+8A>G (n.4862+8A>G) | gnomAD v4 |
17 | g.31265348T>A | CA2733614042 | NF1 | c.637+9T>A (n.637+9T>A) c.4817+9T>A (n.4817+9T>A) n.941+9T>A c.826+9T>A n.1480+9T>A c.4865+9T>A (n.4865+9T>A) c.4835+9T>A (n.4835+9T>A) c.4772+9T>A (n.4772+9T>A) c.3770+9T>A (n.3770+9T>A) n.3308+9T>A c.4874+9T>A (n.4874+9T>A) c.4826+9T>A (n.4826+9T>A) c.4802+9T>A (n.4802+9T>A) c.4862+9T>A (n.4862+9T>A) | dbSNP |
17 | g.31265348_31265368delinsTACTATGTTTTGGGTCTCTTA | CA2255579014 | NF1 | c.637+9_637+29delinsTACTATGTTTTGGGTCTCTTA (n.637+9_637+29delinsTACTATGTTTTGGGTCTCTTA) c.4817+9_4817+29delinsTACTATGTTTTGGGTCTCTTA (n.4817+9_4817+29delinsTACTATGTTTTGGGTCTCTTA) n.941+9_941+29delinsTACTATGTTTTGGGTCTCTTA c.826+9_826+29delinsTACTATGTTTTGGGTCTCTTA n.1480+9_1480+29delinsTACTATGTTTTGGGTCTCTTA c.4865+9_4865+29delinsTACTATGTTTTGGGTCTCTTA (n.4865+9_4865+29delinsTACTATGTTTTGGGTCTCTTA) c.4835+9_4835+29delinsTACTATGTTTTGGGTCTCTTA (n.4835+9_4835+29delinsTACTATGTTTTGGGTCTCTTA) c.4772+9_4772+29delinsTACTATGTTTTGGGTCTCTTA (n.4772+9_4772+29delinsTACTATGTTTTGGGTCTCTTA) c.3770+9_3770+29delinsTACTATGTTTTGGGTCTCTTA (n.3770+9_3770+29delinsTACTATGTTTTGGGTCTCTTA) n.3308+9_3308+29delinsTACTATGTTTTGGGTCTCTTA c.4874+9_4874+29delinsTACTATGTTTTGGGTCTCTTA (n.4874+9_4874+29delinsTACTATGTTTTGGGTCTCTTA) c.4826+9_4826+29delinsTACTATGTTTTGGGTCTCTTA (n.4826+9_4826+29delinsTACTATGTTTTGGGTCTCTTA) c.4802+9_4802+29delinsTACTATGTTTTGGGTCTCTTA (n.4802+9_4802+29delinsTACTATGTTTTGGGTCTCTTA) c.4862+9_4862+29delinsTACTATGTTTTGGGTCTCTTA (n.4862+9_4862+29delinsTACTATGTTTTGGGTCTCTTA) | |
17 | g.31265349A= | CA2255579015 | NF1 | c.637+10A= (n.637+10A=) c.4817+10A= (n.4817+10A=) n.941+10A= c.826+10A= n.1480+10A= c.4865+10A= (n.4865+10A=) c.4835+10A= (n.4835+10A=) c.4772+10A= (n.4772+10A=) c.3770+10A= (n.3770+10A=) n.3308+10A= c.4874+10A= (n.4874+10A=) c.4826+10A= (n.4826+10A=) c.4802+10A= (n.4802+10A=) c.4862+10A= (n.4862+10A=) | |
17 | g.31265349A>G | CA728030744 | NF1 | c.637+10A>G (n.637+10A>G) c.4817+10A>G (n.4817+10A>G) n.941+10A>G c.826+10A>G n.1480+10A>G c.4865+10A>G (n.4865+10A>G) c.4835+10A>G (n.4835+10A>G) c.4772+10A>G (n.4772+10A>G) c.3770+10A>G (n.3770+10A>G) n.3308+10A>G c.4874+10A>G (n.4874+10A>G) c.4826+10A>G (n.4826+10A>G) c.4802+10A>G (n.4802+10A>G) c.4862+10A>G (n.4862+10A>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.31265349A>T | CA2733235129 | NF1 | c.637+10A>T (n.637+10A>T) c.4817+10A>T (n.4817+10A>T) n.941+10A>T c.826+10A>T n.1480+10A>T c.4865+10A>T (n.4865+10A>T) c.4835+10A>T (n.4835+10A>T) c.4772+10A>T (n.4772+10A>T) c.3770+10A>T (n.3770+10A>T) n.3308+10A>T c.4874+10A>T (n.4874+10A>T) c.4826+10A>T (n.4826+10A>T) c.4802+10A>T (n.4802+10A>T) c.4862+10A>T (n.4862+10A>T) | dbSNP |
17 | g.31265351_31265370del | CA8486478 | NF1 | c.637+12_637+31del (n.637+12_637+31del) c.4817+12_4817+31del (n.4817+12_4817+31del) n.941+12_941+31del c.826+12_826+31del n.1480+12_1480+31del c.4865+12_4865+31del (n.4865+12_4865+31del) c.4835+12_4835+31del (n.4835+12_4835+31del) c.4772+12_4772+31del (n.4772+12_4772+31del) c.3770+12_3770+31del (n.3770+12_3770+31del) n.3308+12_3308+31del c.4874+12_4874+31del (n.4874+12_4874+31del) c.4826+12_4826+31del (n.4826+12_4826+31del) c.4802+12_4802+31del (n.4802+12_4802+31del) c.4862+12_4862+31del (n.4862+12_4862+31del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.31265350C>A | CA2637080160 | NF1 | c.637+11C>A (n.637+11C>A) c.4817+11C>A (n.4817+11C>A) n.941+11C>A c.826+11C>A n.1480+11C>A c.4865+11C>A (n.4865+11C>A) c.4835+11C>A (n.4835+11C>A) c.4772+11C>A (n.4772+11C>A) c.3770+11C>A (n.3770+11C>A) n.3308+11C>A c.4874+11C>A (n.4874+11C>A) c.4826+11C>A (n.4826+11C>A) c.4802+11C>A (n.4802+11C>A) c.4862+11C>A (n.4862+11C>A) | dbSNP gnomAD v4 |
17 | g.31265350C= | CA2255579016 | NF1 | c.637+11C= (n.637+11C=) c.4817+11C= (n.4817+11C=) n.941+11C= c.826+11C= n.1480+11C= c.4865+11C= (n.4865+11C=) c.4835+11C= (n.4835+11C=) c.4772+11C= (n.4772+11C=) c.3770+11C= (n.3770+11C=) n.3308+11C= c.4874+11C= (n.4874+11C=) c.4826+11C= (n.4826+11C=) c.4802+11C= (n.4802+11C=) c.4862+11C= (n.4862+11C=) | |
17 | g.31265350C>G | CA2733359622 | NF1 | c.637+11C>G (n.637+11C>G) c.4817+11C>G (n.4817+11C>G) n.941+11C>G c.826+11C>G n.1480+11C>G c.4865+11C>G (n.4865+11C>G) c.4835+11C>G (n.4835+11C>G) c.4772+11C>G (n.4772+11C>G) c.3770+11C>G (n.3770+11C>G) n.3308+11C>G c.4874+11C>G (n.4874+11C>G) c.4826+11C>G (n.4826+11C>G) c.4802+11C>G (n.4802+11C>G) c.4862+11C>G (n.4862+11C>G) | dbSNP |
17 | g.31265350C>T | CA982971536 | NF1 | c.637+11C>T (n.637+11C>T) c.4817+11C>T (n.4817+11C>T) n.941+11C>T c.826+11C>T n.1480+11C>T c.4865+11C>T (n.4865+11C>T) c.4835+11C>T (n.4835+11C>T) c.4772+11C>T (n.4772+11C>T) c.3770+11C>T (n.3770+11C>T) n.3308+11C>T c.4874+11C>T (n.4874+11C>T) c.4826+11C>T (n.4826+11C>T) c.4802+11C>T (n.4802+11C>T) c.4862+11C>T (n.4862+11C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.31265351T>G | CA2697559541 | NF1 | c.637+12T>G (n.637+12T>G) c.4817+12T>G (n.4817+12T>G) n.941+12T>G c.826+12T>G n.1480+12T>G c.4865+12T>G (n.4865+12T>G) c.4835+12T>G (n.4835+12T>G) c.4772+12T>G (n.4772+12T>G) c.3770+12T>G (n.3770+12T>G) n.3308+12T>G c.4874+12T>G (n.4874+12T>G) c.4826+12T>G (n.4826+12T>G) c.4802+12T>G (n.4802+12T>G) c.4862+12T>G (n.4862+12T>G) | ClinVar |
17 | g.31265352_31265353del | CA2573153672 | NF1 | c.637+13_637+14del (n.637+13_637+14del) c.4817+13_4817+14del (n.4817+13_4817+14del) n.941+13_941+14del c.826+13_826+14del n.1480+13_1480+14del c.4865+13_4865+14del (n.4865+13_4865+14del) c.4835+13_4835+14del (n.4835+13_4835+14del) c.4772+13_4772+14del (n.4772+13_4772+14del) c.3770+13_3770+14del (n.3770+13_3770+14del) n.3308+13_3308+14del c.4874+13_4874+14del (n.4874+13_4874+14del) c.4826+13_4826+14del (n.4826+13_4826+14del) c.4802+13_4802+14del (n.4802+13_4802+14del) c.4862+13_4862+14del (n.4862+13_4862+14del) | ClinVar dbSNP |
17 | g.31265352A= | CA2255579017 | NF1 | c.637+13A= (n.637+13A=) c.4817+13A= (n.4817+13A=) n.941+13A= c.826+13A= n.1480+13A= c.4865+13A= (n.4865+13A=) c.4835+13A= (n.4835+13A=) c.4772+13A= (n.4772+13A=) c.3770+13A= (n.3770+13A=) n.3308+13A= c.4874+13A= (n.4874+13A=) c.4826+13A= (n.4826+13A=) c.4802+13A= (n.4802+13A=) c.4862+13A= (n.4862+13A=) | |
17 | g.31265352A>G | CA289355076 | NF1 | c.637+13A>G (n.637+13A>G) c.4817+13A>G (n.4817+13A>G) n.941+13A>G c.826+13A>G n.1480+13A>G c.4865+13A>G (n.4865+13A>G) c.4835+13A>G (n.4835+13A>G) c.4772+13A>G (n.4772+13A>G) c.3770+13A>G (n.3770+13A>G) n.3308+13A>G c.4874+13A>G (n.4874+13A>G) c.4826+13A>G (n.4826+13A>G) c.4802+13A>G (n.4802+13A>G) c.4862+13A>G (n.4862+13A>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.31265352A>T | CA2733223155 | NF1 | c.637+13A>T (n.637+13A>T) c.4817+13A>T (n.4817+13A>T) n.941+13A>T c.826+13A>T n.1480+13A>T c.4865+13A>T (n.4865+13A>T) c.4835+13A>T (n.4835+13A>T) c.4772+13A>T (n.4772+13A>T) c.3770+13A>T (n.3770+13A>T) n.3308+13A>T c.4874+13A>T (n.4874+13A>T) c.4826+13A>T (n.4826+13A>T) c.4802+13A>T (n.4802+13A>T) c.4862+13A>T (n.4862+13A>T) | dbSNP |