Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.31218045_31223483delCA277549NF1c.1573-960_1806del
c.1558-960_1791del
c.1528-960_1761del
c.526-960_759del
c.1303-960_1536del
c.1630-960_1863del
c.1519-960_1752del
 ClinVar
17g.31223428_31223449delCA2695225254NF1c.1767-16_1772del
c.1752-16_1757del
c.1722-16_1727del
c.720-16_725del
c.1497-16_1502del
c.1824-16_1829del
c.1713-16_1718del
17g.31223439_31223487dupCA2697559672NF1c.1767-5_1810dup
c.1752-5_1795dup
c.1722-5_1765dup
c.720-5_763dup
c.1497-5_1540dup
c.1824-5_1867dup
c.1713-5_1756dup
 ClinVar
17g.31223446_31223449delCA645571247NF1c.1769_1772del (p.Ser590Ter)
c.1754_1757del (p.Ser585Ter)
c.1724_1727del (p.Ser575Ter)
c.722_725del (p.Ser241Ter)
c.1499_1502del
c.1826_1829del (p.Ser609Ter)
c.1715_1718del (p.Ser572Ter)
 COSMIC
17g.31223448C>ACA399003965NF1c.1771C>A (p.Gln591Lys)
c.1756C>A (p.Gln586Lys)
c.1726C>A (p.Gln576Lys)
c.724C>A (p.Gln242Lys)
c.1501C>A
c.1828C>A (p.Gln610Lys)
c.1717C>A (p.Gln573Lys)
17g.31223448C=CA2255560243NF1c.1771C= (p.Gln591=)
c.1756C= (p.Gln586=)
c.1726C= (p.Gln576=)
c.724C= (p.Gln242=)
c.1501C=
c.1828C= (p.Gln610=)
c.1717C= (p.Gln573=)
17g.31223448C>GCA399003967NF1c.1771C>G (p.Gln591Glu)
c.1756C>G (p.Gln586Glu)
c.1726C>G (p.Gln576Glu)
c.724C>G (p.Gln242Glu)
c.1501C>G
c.1828C>G (p.Gln610Glu)
c.1717C>G (p.Gln573Glu)
17g.31223448C>TCA16615167NF1c.1771C>T (p.Gln591Ter)
c.1756C>T (p.Gln586Ter)
c.1726C>T (p.Gln576Ter)
c.724C>T (p.Gln242Ter)
c.1501C>T
c.1828C>T (p.Gln610Ter)
c.1717C>T (p.Gln573Ter)
 ClinVar dbSNP
17g.31223448_31223450delinsCAACA2255560244NF1c.1771_1773delinsCAA (p.Gln591=)
c.1756_1758delinsCAA (p.Gln586=)
c.1726_1728delinsCAA (p.Gln576=)
c.724_726delinsCAA (p.Gln242=)
c.1501_1503delinsCAA
c.1828_1830delinsCAA (p.Gln610=)
c.1717_1719delinsCAA (p.Gln573=)
17g.31223448_31223449insTTTTCA2499224008NF1c.1771_1772insTTTT (p.Gln591LeufsTer13)
c.1756_1757insTTTT (p.Gln586LeufsTer13)
c.1726_1727insTTTT (p.Gln576LeufsTer13)
c.724_725insTTTT (p.Gln242LeufsTer13)
c.1501_1502insTTTT
c.1828_1829insTTTT (p.Gln610LeufsTer13)
c.1717_1718insTTTT (p.Gln573LeufsTer13)
 ClinVar dbSNP
17g.31223449A>CCA399003970NF1c.1772A>C (p.Gln591Pro)
c.1757A>C (p.Gln586Pro)
c.1727A>C (p.Gln576Pro)
c.725A>C (p.Gln242Pro)
c.1502A>C
c.1829A>C (p.Gln610Pro)
c.1718A>C (p.Gln573Pro)
17g.31223449A>GCA399003972NF1c.1772A>G (p.Gln591Arg)
c.1757A>G (p.Gln586Arg)
c.1727A>G (p.Gln576Arg)
c.725A>G (p.Gln242Arg)
c.1502A>G
c.1829A>G (p.Gln610Arg)
c.1718A>G (p.Gln573Arg)
 ClinVar
17g.31223449A>TCA399003974NF1c.1772A>T (p.Gln591Leu)
c.1757A>T (p.Gln586Leu)
c.1727A>T (p.Gln576Leu)
c.725A>T (p.Gln242Leu)
c.1502A>T
c.1829A>T (p.Gln610Leu)
c.1718A>T (p.Gln573Leu)
17g.31223451delCA2695225256NF1c.1774del (p.Met592CysfsTer9)
c.1759del (p.Met587CysfsTer9)
c.1729del (p.Met577CysfsTer9)
c.727del (p.Met243CysfsTer9)
c.1504del
c.1831del (p.Met611CysfsTer9)
c.1720del (p.Met574CysfsTer9)
 ClinVar
17g.31223450_31223451delCA1139665412NF1c.1773_1774del (p.Gln591HisfsTer11)
c.1758_1759del (p.Gln586HisfsTer11)
c.1728_1729del (p.Gln576HisfsTer11)
c.726_727del (p.Gln242HisfsTer11)
c.1503_1504del
c.1830_1831del (p.Gln610HisfsTer11)
c.1719_1720del (p.Gln573HisfsTer11)
 ClinVar dbSNP
17g.31223453_31223475delCA2695225255NF1c.1776_1798del (p.Met592IlefsTer3)
c.1761_1783del (p.Met587IlefsTer3)
c.1731_1753del (p.Met577IlefsTer3)
c.729_751del (p.Met243IlefsTer3)
c.1506_1528del
c.1833_1855del (p.Met611IlefsTer3)
c.1722_1744del (p.Met574IlefsTer3)
17g.31223450A=CA2255560245NF1c.1773A= (p.Gln591=)
c.1758A= (p.Gln586=)
c.1728A= (p.Gln576=)
c.726A= (p.Gln242=)
c.1503A=
c.1830A= (p.Gln610=)
c.1719A= (p.Gln573=)
17g.31223450A>CCA399003976NF1c.1773A>C (p.Gln591His)
c.1758A>C (p.Gln586His)
c.1728A>C (p.Gln576His)
c.726A>C (p.Gln242His)
c.1503A>C
c.1830A>C (p.Gln610His)
c.1719A>C (p.Gln573His)
17g.31223450A>GCA16607560NF1c.1773A>G (p.Gln591=)
c.1758A>G (p.Gln586=)
c.1728A>G (p.Gln576=)
c.726A>G (p.Gln242=)
c.1503A>G
c.1830A>G (p.Gln610=)
c.1719A>G (p.Gln573=)
 ClinVar dbSNP
17g.31223450A>TCA399003978NF1c.1773A>T (p.Gln591His)
c.1758A>T (p.Gln586His)
c.1728A>T (p.Gln576His)
c.726A>T (p.Gln242His)
c.1503A>T
c.1830A>T (p.Gln610His)
c.1719A>T (p.Gln573His)
 dbSNP
17g.31223451A>CCA399003981NF1c.1774A>C (p.Met592Leu)
c.1759A>C (p.Met587Leu)
c.1729A>C (p.Met577Leu)
c.727A>C (p.Met243Leu)
c.1504A>C
c.1831A>C (p.Met611Leu)
c.1720A>C (p.Met574Leu)
17g.31223451A>GCA399003983NF1c.1774A>G (p.Met592Val)
c.1759A>G (p.Met587Val)
c.1729A>G (p.Met577Val)
c.727A>G (p.Met243Val)
c.1504A>G
c.1831A>G (p.Met611Val)
c.1720A>G (p.Met574Val)
 gnomAD v4
17g.31223451A>TCA399003984NF1c.1774A>T (p.Met592Leu)
c.1759A>T (p.Met587Leu)
c.1729A>T (p.Met577Leu)
c.727A>T (p.Met243Leu)
c.1504A>T
c.1831A>T (p.Met611Leu)
c.1720A>T (p.Met574Leu)
 dbSNP
17g.31223451_31223456delCA2697559674NF1c.1774_1779del (p.Met592_Leu593del)
c.1759_1764del (p.Met587_Leu588del)
c.1729_1734del (p.Met577_Leu578del)
c.727_732del (p.Met243_Leu244del)
c.1504_1509del
c.1831_1836del (p.Met611_Leu612del)
c.1720_1725del (p.Met574_Leu575del)
 ClinVar
17g.31223452T>ACA399003992NF1c.1775T>A (p.Met592Lys)
c.1760T>A (p.Met587Lys)
c.1730T>A (p.Met577Lys)
c.728T>A (p.Met243Lys)
c.1505T>A
c.1832T>A (p.Met611Lys)
c.1721T>A (p.Met574Lys)
 dbSNP
17g.31223452T>CCA399003990NF1c.1775T>C (p.Met592Thr)
c.1760T>C (p.Met587Thr)
c.1730T>C (p.Met577Thr)
c.728T>C (p.Met243Thr)
c.1505T>C
c.1832T>C (p.Met611Thr)
c.1721T>C (p.Met574Thr)
 dbSNP
17g.31223452T>GCA399003988NF1c.1775T>G (p.Met592Arg)
c.1760T>G (p.Met587Arg)
c.1730T>G (p.Met577Arg)
c.728T>G (p.Met243Arg)
c.1505T>G
c.1832T>G (p.Met611Arg)
c.1721T>G (p.Met574Arg)
 ClinVar
17g.31223453G>ACA399003995NF1c.1776G>A (p.Met592Ile)
c.1761G>A (p.Met587Ile)
c.1731G>A (p.Met577Ile)
c.729G>A (p.Met243Ile)
c.1506G>A
c.1833G>A (p.Met611Ile)
c.1722G>A (p.Met574Ile)
 ClinVar dbSNP
17g.31223453G>CCA399003997NF1c.1776G>C (p.Met592Ile)
c.1761G>C (p.Met587Ile)
c.1731G>C (p.Met577Ile)
c.729G>C (p.Met243Ile)
c.1506G>C
c.1833G>C (p.Met611Ile)
c.1722G>C (p.Met574Ile)
 dbSNP
17g.31223453G>TCA399003999NF1c.1776G>T (p.Met592Ile)
c.1761G>T (p.Met587Ile)
c.1731G>T (p.Met577Ile)
c.729G>T (p.Met243Ile)
c.1506G>T
c.1833G>T (p.Met611Ile)
c.1722G>T (p.Met574Ile)
17g.31223454C>ACA399004003NF1c.1777C>A (p.Leu593Ile)
c.1762C>A (p.Leu588Ile)
c.1732C>A (p.Leu578Ile)
c.730C>A (p.Leu244Ile)
c.1507C>A
c.1834C>A (p.Leu612Ile)
c.1723C>A (p.Leu575Ile)
17g.31223454C>GCA399004005NF1c.1777C>G (p.Leu593Val)
c.1762C>G (p.Leu588Val)
c.1732C>G (p.Leu578Val)
c.730C>G (p.Leu244Val)
c.1507C>G
c.1834C>G (p.Leu612Val)
c.1723C>G (p.Leu575Val)
17g.31223454C>TCA399004007NF1c.1777C>T (p.Leu593Phe)
c.1762C>T (p.Leu588Phe)
c.1732C>T (p.Leu578Phe)
c.730C>T (p.Leu244Phe)
c.1507C>T
c.1834C>T (p.Leu612Phe)
c.1723C>T (p.Leu575Phe)
17g.31223454_31223455delinsCTCA2255560246NF1c.1777_1778delinsCT (p.Leu593=)
c.1762_1763delinsCT (p.Leu588=)
c.1732_1733delinsCT (p.Leu578=)
c.730_731delinsCT (p.Leu244=)
c.1507_1508delinsCT
c.1834_1835delinsCT (p.Leu612=)
c.1723_1724delinsCT (p.Leu575=)
17g.31223455T>ACA399004011NF1c.1778T>A (p.Leu593His)
c.1763T>A (p.Leu588His)
c.1733T>A (p.Leu578His)
c.731T>A (p.Leu244His)
c.1508T>A
c.1835T>A (p.Leu612His)
c.1724T>A (p.Leu575His)
 dbSNP
17g.31223455T>CCA399004013NF1c.1778T>C (p.Leu593Pro)
c.1763T>C (p.Leu588Pro)
c.1733T>C (p.Leu578Pro)
c.731T>C (p.Leu244Pro)
c.1508T>C
c.1835T>C (p.Leu612Pro)
c.1724T>C (p.Leu575Pro)
 ClinVar dbSNP
17g.31223455T>GCA219405NF1c.1778T>G (p.Leu593Arg)
c.1763T>G (p.Leu588Arg)
c.1733T>G (p.Leu578Arg)
c.731T>G (p.Leu244Arg)
c.1508T>G
c.1835T>G (p.Leu612Arg)
c.1724T>G (p.Leu575Arg)
 ClinVar dbSNP
17g.31223455T=CA2255560248NF1c.1778T= (p.Leu593=)
c.1763T= (p.Leu588=)
c.1733T= (p.Leu578=)
c.731T= (p.Leu244=)
c.1508T=
c.1835T= (p.Leu612=)
c.1724T= (p.Leu575=)
17g.31223460dupCA334783NF1c.1783dup (p.Tyr595LeufsTer8)
c.1768dup (p.Tyr590LeufsTer8)
c.1738dup (p.Tyr580LeufsTer8)
c.736dup (p.Tyr246LeufsTer8)
c.1513dup
c.1840dup (p.Tyr614LeufsTer8)
c.1729dup (p.Tyr577LeufsTer8)
 ClinVar dbSNP COSMIC
17g.31223460delCA2255560247NF1c.1783del (p.Tyr595ThrfsTer6)
c.1768del (p.Tyr590ThrfsTer6)
c.1738del (p.Tyr580ThrfsTer6)
c.736del (p.Tyr246ThrfsTer6)
c.1513del
c.1840del (p.Tyr614ThrfsTer6)
c.1729del (p.Tyr577ThrfsTer6)
 ClinVar dbSNP
17g.31223459_31223460delCA2695225257NF1c.1782_1783del (p.Phe594LeufsTer8)
c.1767_1768del (p.Phe589LeufsTer8)
c.1737_1738del (p.Phe579LeufsTer8)
c.735_736del (p.Phe245LeufsTer8)
c.1512_1513del
c.1839_1840del (p.Phe613LeufsTer8)
c.1728_1729del (p.Phe576LeufsTer8)
17g.31223456T>ACA499229659NF1c.1779T>A (p.Leu593=)
c.1764T>A (p.Leu588=)
c.1734T>A (p.Leu578=)
c.732T>A (p.Leu244=)
c.1509T>A
c.1836T>A (p.Leu612=)
c.1725T>A (p.Leu575=)
 dbSNP
17g.31223456T>CCA10580232NF1c.1779T>C (p.Leu593=)
c.1764T>C (p.Leu588=)
c.1734T>C (p.Leu578=)
c.732T>C (p.Leu244=)
c.1509T>C
c.1836T>C (p.Leu612=)
c.1725T>C (p.Leu575=)
 ClinVar dbSNP
17g.31223456T>GCA499229662NF1c.1779T>G (p.Leu593=)
c.1764T>G (p.Leu588=)
c.1734T>G (p.Leu578=)
c.732T>G (p.Leu244=)
c.1509T>G
c.1836T>G (p.Leu612=)
c.1725T>G (p.Leu575=)
 dbSNP
17g.31223456T=CA2255560249NF1c.1779T= (p.Leu593=)
c.1764T= (p.Leu588=)
c.1734T= (p.Leu578=)
c.732T= (p.Leu244=)
c.1509T=
c.1836T= (p.Leu612=)
c.1725T= (p.Leu575=)
17g.31223457T>ACA399004019NF1c.1780T>A (p.Phe594Ile)
c.1765T>A (p.Phe589Ile)
c.1735T>A (p.Phe579Ile)
c.733T>A (p.Phe245Ile)
c.1510T>A
c.1837T>A (p.Phe613Ile)
c.1726T>A (p.Phe576Ile)
17g.31223457T>CCA399004021NF1c.1780T>C (p.Phe594Leu)
c.1765T>C (p.Phe589Leu)
c.1735T>C (p.Phe579Leu)
c.733T>C (p.Phe245Leu)
c.1510T>C
c.1837T>C (p.Phe613Leu)
c.1726T>C (p.Phe576Leu)
 ClinVar dbSNP gnomAD v4
17g.31223457T>GCA399004024NF1c.1780T>G (p.Phe594Val)
c.1765T>G (p.Phe589Val)
c.1735T>G (p.Phe579Val)
c.733T>G (p.Phe245Val)
c.1510T>G
c.1837T>G (p.Phe613Val)
c.1726T>G (p.Phe576Val)
17g.31223457T=CA2255560250NF1c.1780T= (p.Phe594=)
c.1765T= (p.Phe589=)
c.1735T= (p.Phe579=)
c.733T= (p.Phe245=)
c.1510T=
c.1837T= (p.Phe613=)
c.1726T= (p.Phe576=)
17g.31223458T>ACA399004030NF1c.1781T>A (p.Phe594Tyr)
c.1766T>A (p.Phe589Tyr)
c.1736T>A (p.Phe579Tyr)
c.734T>A (p.Phe245Tyr)
c.1511T>A
c.1838T>A (p.Phe613Tyr)
c.1727T>A (p.Phe576Tyr)

Number of alleles fetched