Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.53213408T>ACA340397659CPT2c.1790T>A (p.Val597Glu)
c.1757T>A (p.Val586Glu)
c.*1776T>A (n.*1776T>A)
c.*1437T>A (n.*1437T>A)
c.1721T>A (p.Val574Glu)
c.*43T>A (n.*43T>A)
c.485T>A (p.Val162Glu)
c.1826T>A (p.Val609Glu)
1g.53213408T>CCA340397660CPT2c.1790T>C (p.Val597Ala)
c.1757T>C (p.Val586Ala)
c.*1776T>C (n.*1776T>C)
c.*1437T>C (n.*1437T>C)
c.1721T>C (p.Val574Ala)
c.*43T>C (n.*43T>C)
c.485T>C (p.Val162Ala)
c.1826T>C (p.Val609Ala)
1g.53213408T>GCA340397661CPT2c.1790T>G (p.Val597Gly)
c.1757T>G (p.Val586Gly)
c.*1776T>G (n.*1776T>G)
c.*1437T>G (n.*1437T>G)
c.1721T>G (p.Val574Gly)
c.*43T>G (n.*43T>G)
c.485T>G (p.Val162Gly)
c.1826T>G (p.Val609Gly)
1g.53213409delCA2645711404CPT2c.1791del (p.Asn598ThrfsTer24)
c.1758del (p.Asn587ThrfsTer24)
c.*1777del (n.*1777del)
c.*1438del (n.*1438del)
c.1722del (p.Asn575ThrfsTer24)
c.*44del (n.*44del)
c.486del (p.Asn163ThrfsTer24)
c.1827del (p.Asn610ThrfsTer24)
 gnomAD v4
1g.53213409G>ACA859281CPT2c.1791G>A (p.Val597=)
c.1758G>A (p.Val586=)
c.*1777G>A (n.*1777G>A)
c.*1438G>A (n.*1438G>A)
c.1722G>A (p.Val574=)
c.*44G>A (n.*44G>A)
c.486G>A (p.Val162=)
c.1827G>A (p.Val609=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.53213409G>CCA417875285CPT2c.1791G>C (p.Val597=)
c.1758G>C (p.Val586=)
c.*1777G>C (n.*1777G>C)
c.*1438G>C (n.*1438G>C)
c.1722G>C (p.Val574=)
c.*44G>C (n.*44G>C)
c.486G>C (p.Val162=)
c.1827G>C (p.Val609=)
1g.53213409G=CA1167216340CPT2c.1791G= (p.Val597=)
c.1758G= (p.Val586=)
c.*1777G= (n.*1777G=)
c.*1438G= (n.*1438G=)
c.1722G= (p.Val574=)
c.*44G= (n.*44G=)
c.486G= (p.Val162=)
c.1827G= (p.Val609=)
1g.53213409G>TCA417875284CPT2c.1791G>T (p.Val597=)
c.1758G>T (p.Val586=)
c.*1777G>T (n.*1777G>T)
c.*1438G>T (n.*1438G>T)
c.1722G>T (p.Val574=)
c.*44G>T (n.*44G>T)
c.486G>T (p.Val162=)
c.1827G>T (p.Val609=)
1g.53213410A>CCA340397662CPT2c.1792A>C (p.Asn598His)
c.1759A>C (p.Asn587His)
c.*1778A>C (n.*1778A>C)
c.*1439A>C (n.*1439A>C)
c.1723A>C (p.Asn575His)
c.*45A>C (n.*45A>C)
c.487A>C (p.Asn163His)
c.1828A>C (p.Asn610His)
 gnomAD v4
1g.53213410A>GCA340397664CPT2c.1792A>G (p.Asn598Asp)
c.1759A>G (p.Asn587Asp)
c.*1778A>G (n.*1778A>G)
c.*1439A>G (n.*1439A>G)
c.1723A>G (p.Asn575Asp)
c.*45A>G (n.*45A>G)
c.487A>G (p.Asn163Asp)
c.1828A>G (p.Asn610Asp)
1g.53213410A>TCA340397663CPT2c.1792A>T (p.Asn598Tyr)
c.1759A>T (p.Asn587Tyr)
c.*1778A>T (n.*1778A>T)
c.*1439A>T (n.*1439A>T)
c.1723A>T (p.Asn575Tyr)
c.*45A>T (n.*45A>T)
c.487A>T (p.Asn163Tyr)
c.1828A>T (p.Asn610Tyr)
1g.53213411A>CCA340397665CPT2c.1793A>C (p.Asn598Thr)
c.1760A>C (p.Asn587Thr)
c.*1779A>C (n.*1779A>C)
c.*1440A>C (n.*1440A>C)
c.1724A>C (p.Asn575Thr)
c.*46A>C (n.*46A>C)
c.488A>C (p.Asn163Thr)
c.1829A>C (p.Asn610Thr)
1g.53213411A>GCA340397666CPT2c.1793A>G (p.Asn598Ser)
c.1760A>G (p.Asn587Ser)
c.*1779A>G (n.*1779A>G)
c.*1440A>G (n.*1440A>G)
c.1724A>G (p.Asn575Ser)
c.*46A>G (n.*46A>G)
c.488A>G (p.Asn163Ser)
c.1829A>G (p.Asn610Ser)
1g.53213411A>TCA340397667CPT2c.1793A>T (p.Asn598Ile)
c.1760A>T (p.Asn587Ile)
c.*1779A>T (n.*1779A>T)
c.*1440A>T (n.*1440A>T)
c.1724A>T (p.Asn575Ile)
c.*46A>T (n.*46A>T)
c.488A>T (p.Asn163Ile)
c.1829A>T (p.Asn610Ile)
1g.53213412C>ACA859282CPT2c.1794C>A (p.Asn598Lys)
c.1761C>A (p.Asn587Lys)
c.*1780C>A (n.*1780C>A)
c.*1441C>A (n.*1441C>A)
c.1725C>A (p.Asn575Lys)
c.*47C>A (n.*47C>A)
c.489C>A (p.Asn163Lys)
c.1830C>A (p.Asn610Lys)
 dbSNP ExAC gnomAD v2
1g.53213412C=CA1167216341CPT2c.1794C= (p.Asn598=)
c.1761C= (p.Asn587=)
c.*1780C= (n.*1780C=)
c.*1441C= (n.*1441C=)
c.1725C= (p.Asn575=)
c.*47C= (n.*47C=)
c.489C= (p.Asn163=)
c.1830C= (p.Asn610=)
1g.53213412C>GCA340397668CPT2c.1794C>G (p.Asn598Lys)
c.1761C>G (p.Asn587Lys)
c.*1780C>G (n.*1780C>G)
c.*1441C>G (n.*1441C>G)
c.1725C>G (p.Asn575Lys)
c.*47C>G (n.*47C>G)
c.489C>G (p.Asn163Lys)
c.1830C>G (p.Asn610Lys)
 dbSNP gnomAD v3 gnomAD v4
1g.53213412C>TCA417875295CPT2c.1794C>T (p.Asn598=)
c.1761C>T (p.Asn587=)
c.*1780C>T (n.*1780C>T)
c.*1441C>T (n.*1441C>T)
c.1725C>T (p.Asn575=)
c.*47C>T (n.*47C>T)
c.489C>T (p.Asn163=)
c.1830C>T (p.Asn610=)
1g.53213413C>ACA340397669CPT2c.1795C>A (p.Leu599Ile)
c.1762C>A (p.Leu588Ile)
c.*1781C>A (n.*1781C>A)
c.*1442C>A (n.*1442C>A)
c.1726C>A (p.Leu576Ile)
c.*48C>A (n.*48C>A)
c.490C>A (p.Leu164Ile)
c.1831C>A (p.Leu611Ile)
1g.53213413C=CA1167216342CPT2c.1795C= (p.Leu599=)
c.1762C= (p.Leu588=)
c.*1781C= (n.*1781C=)
c.*1442C= (n.*1442C=)
c.1726C= (p.Leu576=)
c.*48C= (n.*48C=)
c.490C= (p.Leu164=)
c.1831C= (p.Leu611=)
1g.53213413C>GCA859283CPT2c.1795C>G (p.Leu599Val)
c.1762C>G (p.Leu588Val)
c.*1781C>G (n.*1781C>G)
c.*1442C>G (n.*1442C>G)
c.1726C>G (p.Leu576Val)
c.*48C>G (n.*48C>G)
c.490C>G (p.Leu164Val)
c.1831C>G (p.Leu611Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.53213413C>TCA340397670CPT2c.1795C>T (p.Leu599Phe)
c.1762C>T (p.Leu588Phe)
c.*1781C>T (n.*1781C>T)
c.*1442C>T (n.*1442C>T)
c.1726C>T (p.Leu576Phe)
c.*48C>T (n.*48C>T)
c.490C>T (p.Leu164Phe)
c.1831C>T (p.Leu611Phe)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.53213414T>ACA340397671CPT2c.1796T>A (p.Leu599His)
c.1763T>A (p.Leu588His)
c.*1782T>A (n.*1782T>A)
c.*1443T>A (n.*1443T>A)
c.1727T>A (p.Leu576His)
c.*49T>A (n.*49T>A)
c.491T>A (p.Leu164His)
c.1832T>A (p.Leu611His)
1g.53213414T>CCA340397672CPT2c.1796T>C (p.Leu599Pro)
c.1763T>C (p.Leu588Pro)
c.*1782T>C (n.*1782T>C)
c.*1443T>C (n.*1443T>C)
c.1727T>C (p.Leu576Pro)
c.*49T>C (n.*49T>C)
c.491T>C (p.Leu164Pro)
c.1832T>C (p.Leu611Pro)
 dbSNP gnomAD v3 gnomAD v4
1g.53213414T>GCA340397673CPT2c.1796T>G (p.Leu599Arg)
c.1763T>G (p.Leu588Arg)
c.*1782T>G (n.*1782T>G)
c.*1443T>G (n.*1443T>G)
c.1727T>G (p.Leu576Arg)
c.*49T>G (n.*49T>G)
c.491T>G (p.Leu164Arg)
c.1832T>G (p.Leu611Arg)
1g.53213414T=CA1167216343CPT2c.1796T= (p.Leu599=)
c.1763T= (p.Leu588=)
c.*1782T= (n.*1782T=)
c.*1443T= (n.*1443T=)
c.1727T= (p.Leu576=)
c.*49T= (n.*49T=)
c.491T= (p.Leu164=)
c.1832T= (p.Leu611=)
1g.53213415T>ACA417875299CPT2c.1797T>A (p.Leu599=)
c.1764T>A (p.Leu588=)
c.*1783T>A (n.*1783T>A)
c.*1444T>A (n.*1444T>A)
c.1728T>A (p.Leu576=)
c.*50T>A (n.*50T>A)
c.492T>A (p.Leu164=)
c.1833T>A (p.Leu611=)
1g.53213415T>CCA417875300CPT2c.1797T>C (p.Leu599=)
c.1764T>C (p.Leu588=)
c.*1783T>C (n.*1783T>C)
c.*1444T>C (n.*1444T>C)
c.1728T>C (p.Leu576=)
c.*50T>C (n.*50T>C)
c.492T>C (p.Leu164=)
c.1833T>C (p.Leu611=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.53213415T>GCA417875301CPT2c.1797T>G (p.Leu599=)
c.1764T>G (p.Leu588=)
c.*1783T>G (n.*1783T>G)
c.*1444T>G (n.*1444T>G)
c.1728T>G (p.Leu576=)
c.*50T>G (n.*50T>G)
c.492T>G (p.Leu164=)
c.1833T>G (p.Leu611=)
1g.53213415T=CA1167216344CPT2c.1797T= (p.Leu599=)
c.1764T= (p.Leu588=)
c.*1783T= (n.*1783T=)
c.*1444T= (n.*1444T=)
c.1728T= (p.Leu576=)
c.*50T= (n.*50T=)
c.492T= (p.Leu164=)
c.1833T= (p.Leu611=)
1g.53213416G>ACA340397675CPT2c.1798G>A (p.Gly600Arg)
c.1765G>A (p.Gly589Arg)
c.*1784G>A (n.*1784G>A)
c.*1445G>A (n.*1445G>A)
c.1729G>A (p.Gly577Arg)
c.*51G>A (n.*51G>A)
c.493G>A (p.Gly165Arg)
c.1834G>A (p.Gly612Arg)
 ClinVar dbSNP
1g.53213416G>CCA340397676CPT2c.1798G>C (p.Gly600Arg)
c.1765G>C (p.Gly589Arg)
c.*1784G>C (n.*1784G>C)
c.*1445G>C (n.*1445G>C)
c.1729G>C (p.Gly577Arg)
c.*51G>C (n.*51G>C)
c.493G>C (p.Gly165Arg)
c.1834G>C (p.Gly612Arg)
1g.53213416G=CA1167216345CPT2c.1798G= (p.Gly600=)
c.1765G= (p.Gly589=)
c.*1784G= (n.*1784G=)
c.*1445G= (n.*1445G=)
c.1729G= (p.Gly577=)
c.*51G= (n.*51G=)
c.493G= (p.Gly165=)
c.1834G= (p.Gly612=)
1g.53213416G>TCA340397674CPT2c.1798G>T (p.Gly600Trp)
c.1765G>T (p.Gly589Trp)
c.*1784G>T (n.*1784G>T)
c.*1445G>T (n.*1445G>T)
c.1729G>T (p.Gly577Trp)
c.*51G>T (n.*51G>T)
c.493G>T (p.Gly165Trp)
c.1834G>T (p.Gly612Trp)
1g.53213420dupCA2580063084CPT2c.1802dup (p.Phe602LeufsTer7)
c.1769dup (p.Phe591LeufsTer7)
c.*1788dup (n.*1788dup)
c.*1449dup (n.*1449dup)
c.1733dup (p.Phe579LeufsTer7)
c.*55dup (n.*55dup)
c.497dup (p.Phe167LeufsTer7)
c.1838dup (p.Phe614LeufsTer7)
 ClinVar
1g.53213417G>ACA340397678CPT2c.1799G>A (p.Gly600Glu)
c.1766G>A (p.Gly589Glu)
c.*1785G>A (n.*1785G>A)
c.*1446G>A (n.*1446G>A)
c.1730G>A (p.Gly577Glu)
c.*52G>A (n.*52G>A)
c.494G>A (p.Gly165Glu)
c.1835G>A (p.Gly612Glu)
 ClinVar
1g.53213417G>CCA340397677CPT2c.1799G>C (p.Gly600Ala)
c.1766G>C (p.Gly589Ala)
c.*1785G>C (n.*1785G>C)
c.*1446G>C (n.*1446G>C)
c.1730G>C (p.Gly577Ala)
c.*52G>C (n.*52G>C)
c.494G>C (p.Gly165Ala)
c.1835G>C (p.Gly612Ala)
1g.53213417G>TCA340397679CPT2c.1799G>T (p.Gly600Val)
c.1766G>T (p.Gly589Val)
c.*1785G>T (n.*1785G>T)
c.*1446G>T (n.*1446G>T)
c.1730G>T (p.Gly577Val)
c.*52G>T (n.*52G>T)
c.494G>T (p.Gly165Val)
c.1835G>T (p.Gly612Val)
1g.53213418G>ACA417875302CPT2c.1800G>A (p.Gly600=)
c.1767G>A (p.Gly589=)
c.*1786G>A (n.*1786G>A)
c.*1447G>A (n.*1447G>A)
c.1731G>A (p.Gly577=)
c.*53G>A (n.*53G>A)
c.495G>A (p.Gly165=)
c.1836G>A (p.Gly612=)
 ClinVar dbSNP gnomAD v4
1g.53213418G>CCA417875303CPT2c.1800G>C (p.Gly600=)
c.1767G>C (p.Gly589=)
c.*1786G>C (n.*1786G>C)
c.*1447G>C (n.*1447G>C)
c.1731G>C (p.Gly577=)
c.*53G>C (n.*53G>C)
c.495G>C (p.Gly165=)
c.1836G>C (p.Gly612=)
 ClinVar
1g.53213418G=CA1167216346CPT2c.1800G= (p.Gly600=)
c.1767G= (p.Gly589=)
c.*1786G= (n.*1786G=)
c.*1447G= (n.*1447G=)
c.1731G= (p.Gly577=)
c.*53G= (n.*53G=)
c.495G= (p.Gly165=)
c.1836G= (p.Gly612=)
1g.53213418G>TCA859284CPT2c.1800G>T (p.Gly600=)
c.1767G>T (p.Gly589=)
c.*1786G>T (n.*1786G>T)
c.*1447G>T (n.*1447G>T)
c.1731G>T (p.Gly577=)
c.*53G>T (n.*53G>T)
c.495G>T (p.Gly165=)
c.1836G>T (p.Gly612=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.53213418_53213442delinsGGGCTTTGCCCCTGTGGTCTCTGATCA1167216347CPT2c.1800_1824delinsGGGCTTTGCCCCTGTGGTCTCTGAT (p.Gly600=)
c.1767_1791delinsGGGCTTTGCCCCTGTGGTCTCTGAT (p.Gly589=)
c.*1786_*1810delinsGGGCTTTGCCCCTGTGGTCTCTGAT (n.*1786_*1810delinsGGGCTTTGCCCCTGTGGTCTCTGAT)
c.*1447_*1471delinsGGGCTTTGCCCCTGTGGTCTCTGAT (n.*1447_*1471delinsGGGCTTTGCCCCTGTGGTCTCTGAT)
c.1731_1755delinsGGGCTTTGCCCCTGTGGTCTCTGAT (p.Gly577=)
c.*53_*77delinsGGGCTTTGCCCCTGTGGTCTCTGAT (n.*53_*77delinsGGGCTTTGCCCCTGTGGTCTCTGAT)
c.495_519delinsGGGCTTTGCCCCTGTGGTCTCTGAT (p.Gly165=)
c.1836_1860delinsGGGCTTTGCCCCTGTGGTCTCTGAT (p.Gly612=)
1g.53213419G>ACA340397680CPT2c.1801G>A (p.Gly601Ser)
c.1768G>A (p.Gly590Ser)
c.*1787G>A (n.*1787G>A)
c.*1448G>A (n.*1448G>A)
c.1732G>A (p.Gly578Ser)
c.*54G>A (n.*54G>A)
c.496G>A (p.Gly166Ser)
c.1837G>A (p.Gly613Ser)
 gnomAD v4
1g.53213419G>CCA340397681CPT2c.1801G>C (p.Gly601Arg)
c.1768G>C (p.Gly590Arg)
c.*1787G>C (n.*1787G>C)
c.*1448G>C (n.*1448G>C)
c.1732G>C (p.Gly578Arg)
c.*54G>C (n.*54G>C)
c.496G>C (p.Gly166Arg)
c.1837G>C (p.Gly613Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.53213419G=CA1167216348CPT2c.1801G= (p.Gly601=)
c.1768G= (p.Gly590=)
c.*1787G= (n.*1787G=)
c.*1448G= (n.*1448G=)
c.1732G= (p.Gly578=)
c.*54G= (n.*54G=)
c.496G= (p.Gly166=)
c.1837G= (p.Gly613=)
1g.53213419G>TCA340397682CPT2c.1801G>T (p.Gly601Cys)
c.1768G>T (p.Gly590Cys)
c.*1787G>T (n.*1787G>T)
c.*1448G>T (n.*1448G>T)
c.1732G>T (p.Gly578Cys)
c.*54G>T (n.*54G>T)
c.496G>T (p.Gly166Cys)
c.1837G>T (p.Gly613Cys)
1g.53213426_53213449dupCA2645711412CPT2c.1808_1831dup (p.Phe610_Gly611insAlaProValValSerAspGlyPhe)
c.1775_1798dup (p.Phe599_Gly600insAlaProValValSerAspGlyPhe)
c.*1794_*1817dup (n.*1794_*1817dup)
c.*1455_*1478dup (n.*1455_*1478dup)
c.1739_1762dup (p.Phe587_Gly588insAlaProValValSerAspGlyPhe)
c.*61_*84dup (n.*61_*84dup)
c.503_526dup (p.Phe175_Gly176insAlaProValValSerAspGlyPhe)
c.1844_1867dup (p.Phe622_Gly623insAlaProValValSerAspGlyPhe)
 gnomAD v4
1g.53213426_53213449delCA523273505CPT2c.1808_1831del (p.Ala603_Phe610del)
c.1775_1798del (p.Ala592_Phe599del)
c.*1794_*1817del (n.*1794_*1817del)
c.*1455_*1478del (n.*1455_*1478del)
c.1739_1762del (p.Ala580_Phe587del)
c.*61_*84del (n.*61_*84del)
c.503_526del (p.Ala168_Phe175del)
c.1844_1867del (p.Ala615_Phe622del)
 dbSNP gnomAD v2 gnomAD v4
1g.53213420G>ACA340397683CPT2c.1802G>A (p.Gly601Asp)
c.1769G>A (p.Gly590Asp)
c.*1788G>A (n.*1788G>A)
c.*1449G>A (n.*1449G>A)
c.1733G>A (p.Gly578Asp)
c.*55G>A (n.*55G>A)
c.497G>A (p.Gly166Asp)
c.1838G>A (p.Gly613Asp)
 ClinVar
1g.53213420G>CCA340397684CPT2c.1802G>C (p.Gly601Ala)
c.1769G>C (p.Gly590Ala)
c.*1788G>C (n.*1788G>C)
c.*1449G>C (n.*1449G>C)
c.1733G>C (p.Gly578Ala)
c.*55G>C (n.*55G>C)
c.497G>C (p.Gly166Ala)
c.1838G>C (p.Gly613Ala)
1g.53213420G>TCA340397685CPT2c.1802G>T (p.Gly601Val)
c.1769G>T (p.Gly590Val)
c.*1788G>T (n.*1788G>T)
c.*1449G>T (n.*1449G>T)
c.1733G>T (p.Gly578Val)
c.*55G>T (n.*55G>T)
c.497G>T (p.Gly166Val)
c.1838G>T (p.Gly613Val)
 ClinVar dbSNP
1g.53213421delCA2586966685CPT2c.1803del (p.Phe602LeufsTer20)
c.1770del (p.Phe591LeufsTer20)
c.*1789del (n.*1789del)
c.*1450del (n.*1450del)
c.1734del (p.Phe579LeufsTer20)
c.*56del (n.*56del)
c.498del (p.Phe167LeufsTer20)
c.1839del (p.Phe614LeufsTer20)
1g.53213421C>ACA417875304CPT2c.1803C>A (p.Gly601=)
c.1770C>A (p.Gly590=)
c.*1789C>A (n.*1789C>A)
c.*1450C>A (n.*1450C>A)
c.1734C>A (p.Gly578=)
c.*56C>A (n.*56C>A)
c.498C>A (p.Gly166=)
c.1839C>A (p.Gly613=)
1g.53213421C=CA1167216349CPT2c.1803C= (p.Gly601=)
c.1770C= (p.Gly590=)
c.*1789C= (n.*1789C=)
c.*1450C= (n.*1450C=)
c.1734C= (p.Gly578=)
c.*56C= (n.*56C=)
c.498C= (p.Gly166=)
c.1839C= (p.Gly613=)
1g.53213421C>GCA417875305CPT2c.1803C>G (p.Gly601=)
c.1770C>G (p.Gly590=)
c.*1789C>G (n.*1789C>G)
c.*1450C>G (n.*1450C>G)
c.1734C>G (p.Gly578=)
c.*56C>G (n.*56C>G)
c.498C>G (p.Gly166=)
c.1839C>G (p.Gly613=)
1g.53213421C>TCA417875306CPT2c.1803C>T (p.Gly601=)
c.1770C>T (p.Gly590=)
c.*1789C>T (n.*1789C>T)
c.*1450C>T (n.*1450C>T)
c.1734C>T (p.Gly578=)
c.*56C>T (n.*56C>T)
c.498C>T (p.Gly166=)
c.1839C>T (p.Gly613=)
 dbSNP gnomAD v2
1g.53213421_53213422delinsCTCA1167216350CPT2c.1803_1804delinsCT (p.Gly601=)
c.1770_1771delinsCT (p.Gly590=)
c.*1789_*1790delinsCT (n.*1789_*1790delinsCT)
c.*1450_*1451delinsCT (n.*1450_*1451delinsCT)
c.1734_1735delinsCT (p.Gly578=)
c.*56_*57delinsCT (n.*56_*57delinsCT)
c.498_499delinsCT (p.Gly166=)
c.1839_1840delinsCT (p.Gly613=)
1g.53213422T>ACA340397686CPT2c.1804T>A (p.Phe602Ile)
c.1771T>A (p.Phe591Ile)
c.*1790T>A (n.*1790T>A)
c.*1451T>A (n.*1451T>A)
c.1735T>A (p.Phe579Ile)
c.*57T>A (n.*57T>A)
c.499T>A (p.Phe167Ile)
c.1840T>A (p.Phe614Ile)
1g.53213422T>CCA340397687CPT2c.1804T>C (p.Phe602Leu)
c.1771T>C (p.Phe591Leu)
c.*1790T>C (n.*1790T>C)
c.*1451T>C (n.*1451T>C)
c.1735T>C (p.Phe579Leu)
c.*57T>C (n.*57T>C)
c.499T>C (p.Phe167Leu)
c.1840T>C (p.Phe614Leu)
1g.53213422T>GCA340397688CPT2c.1804T>G (p.Phe602Val)
c.1771T>G (p.Phe591Val)
c.*1790T>G (n.*1790T>G)
c.*1451T>G (n.*1451T>G)
c.1735T>G (p.Phe579Val)
c.*57T>G (n.*57T>G)
c.499T>G (p.Phe167Val)
c.1840T>G (p.Phe614Val)
1g.53213424delCA736856049CPT2c.1806del (p.Phe602LeufsTer20)
c.1773del (p.Phe591LeufsTer20)
c.*1792del (n.*1792del)
c.*1453del (n.*1453del)
c.1737del (p.Phe579LeufsTer20)
c.*59del (n.*59del)
c.501del (p.Phe167LeufsTer20)
c.1842del (p.Phe614LeufsTer20)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.53213423T>ACA340397691CPT2c.1805T>A (p.Phe602Tyr)
c.1772T>A (p.Phe591Tyr)
c.*1791T>A (n.*1791T>A)
c.*1452T>A (n.*1452T>A)
c.1736T>A (p.Phe579Tyr)
c.*58T>A (n.*58T>A)
c.500T>A (p.Phe167Tyr)
c.1841T>A (p.Phe614Tyr)
1g.53213423T>CCA340397690CPT2c.1805T>C (p.Phe602Ser)
c.1772T>C (p.Phe591Ser)
c.*1791T>C (n.*1791T>C)
c.*1452T>C (n.*1452T>C)
c.1736T>C (p.Phe579Ser)
c.*58T>C (n.*58T>C)
c.500T>C (p.Phe167Ser)
c.1841T>C (p.Phe614Ser)
1g.53213423T>GCA340397689CPT2c.1805T>G (p.Phe602Cys)
c.1772T>G (p.Phe591Cys)
c.*1791T>G (n.*1791T>G)
c.*1452T>G (n.*1452T>G)
c.1736T>G (p.Phe579Cys)
c.*58T>G (n.*58T>G)
c.500T>G (p.Phe167Cys)
c.1841T>G (p.Phe614Cys)
1g.53213424T>ACA340397692CPT2c.1806T>A (p.Phe602Leu)
c.1773T>A (p.Phe591Leu)
c.*1792T>A (n.*1792T>A)
c.*1453T>A (n.*1453T>A)
c.1737T>A (p.Phe579Leu)
c.*59T>A (n.*59T>A)
c.501T>A (p.Phe167Leu)
c.1842T>A (p.Phe614Leu)
1g.53213424T>CCA859285CPT2c.1806T>C (p.Phe602=)
c.1773T>C (p.Phe591=)
c.*1792T>C (n.*1792T>C)
c.*1453T>C (n.*1453T>C)
c.1737T>C (p.Phe579=)
c.*59T>C (n.*59T>C)
c.501T>C (p.Phe167=)
c.1842T>C (p.Phe614=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.53213424T>GCA340397693CPT2c.1806T>G (p.Phe602Leu)
c.1773T>G (p.Phe591Leu)
c.*1792T>G (n.*1792T>G)
c.*1453T>G (n.*1453T>G)
c.1737T>G (p.Phe579Leu)
c.*59T>G (n.*59T>G)
c.501T>G (p.Phe167Leu)
c.1842T>G (p.Phe614Leu)
1g.53213424T=CA1142210152CPT2c.1806T= (p.Phe602=)
c.1773T= (p.Phe591=)
c.*1792T= (n.*1792T=)
c.*1453T= (n.*1453T=)
c.1737T= (p.Phe579=)
c.*59T= (n.*59T=)
c.501T= (p.Phe167=)
c.1842T= (p.Phe614=)
1g.53213425G>ACA340397694CPT2c.1807G>A (p.Ala603Thr)
c.1774G>A (p.Ala592Thr)
c.*1793G>A (n.*1793G>A)
c.*1454G>A (n.*1454G>A)
c.1738G>A (p.Ala580Thr)
c.*60G>A (n.*60G>A)
c.502G>A (p.Ala168Thr)
c.1843G>A (p.Ala615Thr)
1g.53213425G>CCA340397695CPT2c.1807G>C (p.Ala603Pro)
c.1774G>C (p.Ala592Pro)
c.*1793G>C (n.*1793G>C)
c.*1454G>C (n.*1454G>C)
c.1738G>C (p.Ala580Pro)
c.*60G>C (n.*60G>C)
c.502G>C (p.Ala168Pro)
c.1843G>C (p.Ala615Pro)
1g.53213425G>TCA340397696CPT2c.1807G>T (p.Ala603Ser)
c.1774G>T (p.Ala592Ser)
c.*1793G>T (n.*1793G>T)
c.*1454G>T (n.*1454G>T)
c.1738G>T (p.Ala580Ser)
c.*60G>T (n.*60G>T)
c.502G>T (p.Ala168Ser)
c.1843G>T (p.Ala615Ser)
1g.53213425_53213426dupCA2645711419CPT2c.1807_1808dup (p.Val605LeufsTer18)
c.1774_1775dup (p.Val594LeufsTer18)
c.*1793_*1794dup (n.*1793_*1794dup)
c.*1454_*1455dup (n.*1454_*1455dup)
c.1738_1739dup (p.Val582LeufsTer18)
c.*60_*61dup (n.*60_*61dup)
c.502_503dup (p.Val170LeufsTer18)
c.1843_1844dup (p.Val617LeufsTer18)
 gnomAD v4
1g.53213426C>ACA340397697CPT2c.1808C>A (p.Ala603Asp)
c.1775C>A (p.Ala592Asp)
c.*1794C>A (n.*1794C>A)
c.*1455C>A (n.*1455C>A)
c.1739C>A (p.Ala580Asp)
c.*61C>A (n.*61C>A)
c.503C>A (p.Ala168Asp)
c.1844C>A (p.Ala615Asp)
1g.53213426C>GCA340397698CPT2c.1808C>G (p.Ala603Gly)
c.1775C>G (p.Ala592Gly)
c.*1794C>G (n.*1794C>G)
c.*1455C>G (n.*1455C>G)
c.1739C>G (p.Ala580Gly)
c.*61C>G (n.*61C>G)
c.503C>G (p.Ala168Gly)
c.1844C>G (p.Ala615Gly)
1g.53213426C>TCA340397699CPT2c.1808C>T (p.Ala603Val)
c.1775C>T (p.Ala592Val)
c.*1794C>T (n.*1794C>T)
c.*1455C>T (n.*1455C>T)
c.1739C>T (p.Ala580Val)
c.*61C>T (n.*61C>T)
c.503C>T (p.Ala168Val)
c.1844C>T (p.Ala615Val)
1g.53213427C>ACA417875312CPT2c.1809C>A (p.Ala603=)
c.1776C>A (p.Ala592=)
c.*1795C>A (n.*1795C>A)
c.*1456C>A (n.*1456C>A)
c.1740C>A (p.Ala580=)
c.*62C>A (n.*62C>A)
c.504C>A (p.Ala168=)
c.1845C>A (p.Ala615=)
1g.53213427C>GCA417875311CPT2c.1809C>G (p.Ala603=)
c.1776C>G (p.Ala592=)
c.*1795C>G (n.*1795C>G)
c.*1456C>G (n.*1456C>G)
c.1740C>G (p.Ala580=)
c.*62C>G (n.*62C>G)
c.504C>G (p.Ala168=)
c.1845C>G (p.Ala615=)
1g.53213427C>TCA417875310CPT2c.1809C>T (p.Ala603=)
c.1776C>T (p.Ala592=)
c.*1795C>T (n.*1795C>T)
c.*1456C>T (n.*1456C>T)
c.1740C>T (p.Ala580=)
c.*62C>T (n.*62C>T)
c.504C>T (p.Ala168=)
c.1845C>T (p.Ala615=)
 COSMIC
1g.53213428C>ACA340397700CPT2c.1810C>A (p.Pro604Thr)
c.1777C>A (p.Pro593Thr)
c.*1796C>A (n.*1796C>A)
c.*1457C>A (n.*1457C>A)
c.1741C>A (p.Pro581Thr)
c.*63C>A (n.*63C>A)
c.505C>A (p.Pro169Thr)
c.1846C>A (p.Pro616Thr)
1g.53213428C=CA1167216351CPT2c.1810C= (p.Pro604=)
c.1777C= (p.Pro593=)
c.*1796C= (n.*1796C=)
c.*1457C= (n.*1457C=)
c.1741C= (p.Pro581=)
c.*63C= (n.*63C=)
c.505C= (p.Pro169=)
c.1846C= (p.Pro616=)
1g.53213428C>GCA340397701CPT2c.1810C>G (p.Pro604Ala)
c.1777C>G (p.Pro593Ala)
c.*1796C>G (n.*1796C>G)
c.*1457C>G (n.*1457C>G)
c.1741C>G (p.Pro581Ala)
c.*63C>G (n.*63C>G)
c.505C>G (p.Pro169Ala)
c.1846C>G (p.Pro616Ala)
1g.53213428C>TCA340397702CPT2c.1810C>T (p.Pro604Ser)
c.1777C>T (p.Pro593Ser)
c.*1796C>T (n.*1796C>T)
c.*1457C>T (n.*1457C>T)
c.1741C>T (p.Pro581Ser)
c.*63C>T (n.*63C>T)
c.505C>T (p.Pro169Ser)
c.1846C>T (p.Pro616Ser)
 ClinVar dbSNP gnomAD v4
1g.53213429C>ACA340397703CPT2c.1811C>A (p.Pro604His)
c.1778C>A (p.Pro593His)
c.*1797C>A (n.*1797C>A)
c.*1458C>A (n.*1458C>A)
c.1742C>A (p.Pro581His)
c.*64C>A (n.*64C>A)
c.506C>A (p.Pro169His)
c.1847C>A (p.Pro616His)
1g.53213429C=CA1167216352CPT2c.1811C= (p.Pro604=)
c.1778C= (p.Pro593=)
c.*1797C= (n.*1797C=)
c.*1458C= (n.*1458C=)
c.1742C= (p.Pro581=)
c.*64C= (n.*64C=)
c.506C= (p.Pro169=)
c.1847C= (p.Pro616=)
1g.53213429C>GCA340397704CPT2c.1811C>G (p.Pro604Arg)
c.1778C>G (p.Pro593Arg)
c.*1797C>G (n.*1797C>G)
c.*1458C>G (n.*1458C>G)
c.1742C>G (p.Pro581Arg)
c.*64C>G (n.*64C>G)
c.506C>G (p.Pro169Arg)
c.1847C>G (p.Pro616Arg)
1g.53213429C>TCA22642034CPT2c.1811C>T (p.Pro604Leu)
c.1778C>T (p.Pro593Leu)
c.*1797C>T (n.*1797C>T)
c.*1458C>T (n.*1458C>T)
c.1742C>T (p.Pro581Leu)
c.*64C>T (n.*64C>T)
c.506C>T (p.Pro169Leu)
c.1847C>T (p.Pro616Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.53213430delCA2574373982CPT2c.1812del (p.Val605TrpfsTer17)
c.1779del (p.Val594TrpfsTer17)
c.*1798del (n.*1798del)
c.*1459del (n.*1459del)
c.1743del (p.Val582TrpfsTer17)
c.*65del (n.*65del)
c.507del (p.Val170TrpfsTer17)
c.1848del (p.Val617TrpfsTer17)
1g.53213430T>ACA417875320CPT2c.1812T>A (p.Pro604=)
c.1779T>A (p.Pro593=)
c.*1798T>A (n.*1798T>A)
c.*1459T>A (n.*1459T>A)
c.1743T>A (p.Pro581=)
c.*65T>A (n.*65T>A)
c.507T>A (p.Pro169=)
c.1848T>A (p.Pro616=)
1g.53213430T>CCA417875322CPT2c.1812T>C (p.Pro604=)
c.1779T>C (p.Pro593=)
c.*1798T>C (n.*1798T>C)
c.*1459T>C (n.*1459T>C)
c.1743T>C (p.Pro581=)
c.*65T>C (n.*65T>C)
c.507T>C (p.Pro169=)
c.1848T>C (p.Pro616=)
 ClinVar dbSNP
1g.53213430T>GCA417875321CPT2c.1812T>G (p.Pro604=)
c.1779T>G (p.Pro593=)
c.*1798T>G (n.*1798T>G)
c.*1459T>G (n.*1459T>G)
c.1743T>G (p.Pro581=)
c.*65T>G (n.*65T>G)
c.507T>G (p.Pro169=)
c.1848T>G (p.Pro616=)
1g.53213430T=CA1167216353CPT2c.1812T= (p.Pro604=)
c.1779T= (p.Pro593=)
c.*1798T= (n.*1798T=)
c.*1459T= (n.*1459T=)
c.1743T= (p.Pro581=)
c.*65T= (n.*65T=)
c.507T= (p.Pro169=)
c.1848T= (p.Pro616=)
1g.53213432_53213433delCA2586966686CPT2c.1814_1815del (p.Val605GlyfsTer3)
c.1781_1782del (p.Val594GlyfsTer3)
c.*1800_*1801del (n.*1800_*1801del)
c.*1461_*1462del (n.*1461_*1462del)
c.1745_1746del (p.Val582GlyfsTer3)
c.*67_*68del (n.*67_*68del)
c.509_510del (p.Val170GlyfsTer3)
c.1850_1851del (p.Val617GlyfsTer3)
1g.53213431G>ACA340397705CPT2c.1813G>A (p.Val605Met)
c.1780G>A (p.Val594Met)
c.*1799G>A (n.*1799G>A)
c.*1460G>A (n.*1460G>A)
c.1744G>A (p.Val582Met)
c.*66G>A (n.*66G>A)
c.508G>A (p.Val170Met)
c.1849G>A (p.Val617Met)
 gnomAD v4
1g.53213431G>CCA859286CPT2c.1813G>C (p.Val605Leu)
c.1780G>C (p.Val594Leu)
c.*1799G>C (n.*1799G>C)
c.*1460G>C (n.*1460G>C)
c.1744G>C (p.Val582Leu)
c.*66G>C (n.*66G>C)
c.508G>C (p.Val170Leu)
c.1849G>C (p.Val617Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.53213431G=CA1167216354CPT2c.1813G= (p.Val605=)
c.1780G= (p.Val594=)
c.*1799G= (n.*1799G=)
c.*1460G= (n.*1460G=)
c.1744G= (p.Val582=)
c.*66G= (n.*66G=)
c.508G= (p.Val170=)
c.1849G= (p.Val617=)
1g.53213431G>TCA340397706CPT2c.1813G>T (p.Val605Leu)
c.1780G>T (p.Val594Leu)
c.*1799G>T (n.*1799G>T)
c.*1460G>T (n.*1460G>T)
c.1744G>T (p.Val582Leu)
c.*66G>T (n.*66G>T)
c.508G>T (p.Val170Leu)
c.1849G>T (p.Val617Leu)
1g.53213432T>ACA340397707CPT2c.1814T>A (p.Val605Glu)
c.1781T>A (p.Val594Glu)
c.*1800T>A (n.*1800T>A)
c.*1461T>A (n.*1461T>A)
c.1745T>A (p.Val582Glu)
c.*67T>A (n.*67T>A)
c.509T>A (p.Val170Glu)
c.1850T>A (p.Val617Glu)
1g.53213432T>CCA340397708CPT2c.1814T>C (p.Val605Ala)
c.1781T>C (p.Val594Ala)
c.*1800T>C (n.*1800T>C)
c.*1461T>C (n.*1461T>C)
c.1745T>C (p.Val582Ala)
c.*67T>C (n.*67T>C)
c.509T>C (p.Val170Ala)
c.1850T>C (p.Val617Ala)
1g.53213432T>GCA340397709CPT2c.1814T>G (p.Val605Gly)
c.1781T>G (p.Val594Gly)
c.*1800T>G (n.*1800T>G)
c.*1461T>G (n.*1461T>G)
c.1745T>G (p.Val582Gly)
c.*67T>G (n.*67T>G)
c.509T>G (p.Val170Gly)
c.1850T>G (p.Val617Gly)
1g.53213433G>ACA859287CPT2c.1815G>A (p.Val605=)
c.1782G>A (p.Val594=)
c.*1801G>A (n.*1801G>A)
c.*1462G>A (n.*1462G>A)
c.1746G>A (p.Val582=)
c.*68G>A (n.*68G>A)
c.510G>A (p.Val170=)
c.1851G>A (p.Val617=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.53213433G>CCA417875333CPT2c.1815G>C (p.Val605=)
c.1782G>C (p.Val594=)
c.*1801G>C (n.*1801G>C)
c.*1462G>C (n.*1462G>C)
c.1746G>C (p.Val582=)
c.*68G>C (n.*68G>C)
c.510G>C (p.Val170=)
c.1851G>C (p.Val617=)
1g.53213433G=CA1167216355CPT2c.1815G= (p.Val605=)
c.1782G= (p.Val594=)
c.*1801G= (n.*1801G=)
c.*1462G= (n.*1462G=)
c.1746G= (p.Val582=)
c.*68G= (n.*68G=)
c.510G= (p.Val170=)
c.1851G= (p.Val617=)
1g.53213433G>TCA417875336CPT2c.1815G>T (p.Val605=)
c.1782G>T (p.Val594=)
c.*1801G>T (n.*1801G>T)
c.*1462G>T (n.*1462G>T)
c.1746G>T (p.Val582=)
c.*68G>T (n.*68G>T)
c.510G>T (p.Val170=)
c.1851G>T (p.Val617=)
1g.53213433_53213435delinsGGTCA1167216356CPT2c.1815_1817delinsGGT (p.Val605=)
c.1782_1784delinsGGT (p.Val594=)
c.*1801_*1803delinsGGT (n.*1801_*1803delinsGGT)
c.*1462_*1464delinsGGT (n.*1462_*1464delinsGGT)
c.1746_1748delinsGGT (p.Val582=)
c.*68_*70delinsGGT (n.*68_*70delinsGGT)
c.510_512delinsGGT (p.Val170=)
c.1851_1853delinsGGT (p.Val617=)
1g.53213434G>ACA859288CPT2c.1816G>A (p.Val606Ile)
c.1783G>A (p.Val595Ile)
c.*1802G>A (n.*1802G>A)
c.*1463G>A (n.*1463G>A)
c.1747G>A (p.Val583Ile)
c.*69G>A (n.*69G>A)
c.511G>A (p.Val171Ile)
c.1852G>A (p.Val618Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.53213434G>CCA340397710CPT2c.1816G>C (p.Val606Leu)
c.1783G>C (p.Val595Leu)
c.*1802G>C (n.*1802G>C)
c.*1463G>C (n.*1463G>C)
c.1747G>C (p.Val583Leu)
c.*69G>C (n.*69G>C)
c.511G>C (p.Val171Leu)
c.1852G>C (p.Val618Leu)
1g.53213434G=CA1167216357CPT2c.1816G= (p.Val606=)
c.1783G= (p.Val595=)
c.*1802G= (n.*1802G=)
c.*1463G= (n.*1463G=)
c.1747G= (p.Val583=)
c.*69G= (n.*69G=)
c.511G= (p.Val171=)
c.1852G= (p.Val618=)
1g.53213434G>TCA340397711CPT2c.1816G>T (p.Val606Phe)
c.1783G>T (p.Val595Phe)
c.*1802G>T (n.*1802G>T)
c.*1463G>T (n.*1463G>T)
c.1747G>T (p.Val583Phe)
c.*69G>T (n.*69G>T)
c.511G>T (p.Val171Phe)
c.1852G>T (p.Val618Phe)
1g.53213434_53213435delCA22642062CPT2c.1816_1817del (p.Val606LeufsTer2)
c.1783_1784del (p.Val595LeufsTer2)
c.*1802_*1803del (n.*1802_*1803del)
c.*1463_*1464del (n.*1463_*1464del)
c.1747_1748del (p.Val583LeufsTer2)
c.*69_*70del (n.*69_*70del)
c.511_512del (p.Val171LeufsTer2)
c.1852_1853del (p.Val618LeufsTer2)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.53213435T>ACA340397712CPT2c.1817T>A (p.Val606Asp)
c.1784T>A (p.Val595Asp)
c.*1803T>A (n.*1803T>A)
c.*1464T>A (n.*1464T>A)
c.1748T>A (p.Val583Asp)
c.*70T>A (n.*70T>A)
c.512T>A (p.Val171Asp)
c.1853T>A (p.Val618Asp)
1g.53213435T>CCA340397713CPT2c.1817T>C (p.Val606Ala)
c.1784T>C (p.Val595Ala)
c.*1803T>C (n.*1803T>C)
c.*1464T>C (n.*1464T>C)
c.1748T>C (p.Val583Ala)
c.*70T>C (n.*70T>C)
c.512T>C (p.Val171Ala)
c.1853T>C (p.Val618Ala)
1g.53213435T>GCA340397714CPT2c.1817T>G (p.Val606Gly)
c.1784T>G (p.Val595Gly)
c.*1803T>G (n.*1803T>G)
c.*1464T>G (n.*1464T>G)
c.1748T>G (p.Val583Gly)
c.*70T>G (n.*70T>G)
c.512T>G (p.Val171Gly)
c.1853T>G (p.Val618Gly)
1g.53213436C>ACA417875345CPT2c.1818C>A (p.Val606=)
c.1785C>A (p.Val595=)
c.*1804C>A (n.*1804C>A)
c.*1465C>A (n.*1465C>A)
c.1749C>A (p.Val583=)
c.*71C>A (n.*71C>A)
c.513C>A (p.Val171=)
c.1854C>A (p.Val618=)
1g.53213436C=CA1167216358CPT2c.1818C= (p.Val606=)
c.1785C= (p.Val595=)
c.*1804C= (n.*1804C=)
c.*1465C= (n.*1465C=)
c.1749C= (p.Val583=)
c.*71C= (n.*71C=)
c.513C= (p.Val171=)
c.1854C= (p.Val618=)
1g.53213436C>GCA417875346CPT2c.1818C>G (p.Val606=)
c.1785C>G (p.Val595=)
c.*1804C>G (n.*1804C>G)
c.*1465C>G (n.*1465C>G)
c.1749C>G (p.Val583=)
c.*71C>G (n.*71C>G)
c.513C>G (p.Val171=)
c.1854C>G (p.Val618=)
1g.53213436C>TCA417875347CPT2c.1818C>T (p.Val606=)
c.1785C>T (p.Val595=)
c.*1804C>T (n.*1804C>T)
c.*1465C>T (n.*1465C>T)
c.1749C>T (p.Val583=)
c.*71C>T (n.*71C>T)
c.513C>T (p.Val171=)
c.1854C>T (p.Val618=)
 dbSNP gnomAD v2 gnomAD v4
1g.53213437T>ACA340397715CPT2c.1819T>A (p.Ser607Thr)
c.1786T>A (p.Ser596Thr)
c.*1805T>A (n.*1805T>A)
c.*1466T>A (n.*1466T>A)
c.1750T>A (p.Ser584Thr)
c.*72T>A (n.*72T>A)
c.514T>A (p.Ser172Thr)
c.1855T>A (p.Ser619Thr)
1g.53213437T>CCA340397717CPT2c.1819T>C (p.Ser607Pro)
c.1786T>C (p.Ser596Pro)
c.*1805T>C (n.*1805T>C)
c.*1466T>C (n.*1466T>C)
c.1750T>C (p.Ser584Pro)
c.*72T>C (n.*72T>C)
c.514T>C (p.Ser172Pro)
c.1855T>C (p.Ser619Pro)
1g.53213437T>GCA340397716CPT2c.1819T>G (p.Ser607Ala)
c.1786T>G (p.Ser596Ala)
c.*1805T>G (n.*1805T>G)
c.*1466T>G (n.*1466T>G)
c.1750T>G (p.Ser584Ala)
c.*72T>G (n.*72T>G)
c.514T>G (p.Ser172Ala)
c.1855T>G (p.Ser619Ala)
1g.53213438C>ACA340397718CPT2c.1820C>A (p.Ser607Tyr)
c.1787C>A (p.Ser596Tyr)
c.*1806C>A (n.*1806C>A)
c.*1467C>A (n.*1467C>A)
c.1751C>A (p.Ser584Tyr)
c.*73C>A (n.*73C>A)
c.515C>A (p.Ser172Tyr)
c.1856C>A (p.Ser619Tyr)
1g.53213438C=CA1143514149CPT2c.1820C= (p.Ser607=)
c.1787C= (p.Ser596=)
c.*1806C= (n.*1806C=)
c.*1467C= (n.*1467C=)
c.1751C= (p.Ser584=)
c.*73C= (n.*73C=)
c.515C= (p.Ser172=)
c.1856C= (p.Ser619=)
1g.53213438C>GCA859289CPT2c.1820C>G (p.Ser607Cys)
c.1787C>G (p.Ser596Cys)
c.*1806C>G (n.*1806C>G)
c.*1467C>G (n.*1467C>G)
c.1751C>G (p.Ser584Cys)
c.*73C>G (n.*73C>G)
c.515C>G (p.Ser172Cys)
c.1856C>G (p.Ser619Cys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.53213438C>TCA340397719CPT2c.1820C>T (p.Ser607Phe)
c.1787C>T (p.Ser596Phe)
c.*1806C>T (n.*1806C>T)
c.*1467C>T (n.*1467C>T)
c.1751C>T (p.Ser584Phe)
c.*73C>T (n.*73C>T)
c.515C>T (p.Ser172Phe)
c.1856C>T (p.Ser619Phe)
1g.53213439T>ACA417875354CPT2c.1821T>A (p.Ser607=)
c.1788T>A (p.Ser596=)
c.*1807T>A (n.*1807T>A)
c.*1468T>A (n.*1468T>A)
c.1752T>A (p.Ser584=)
c.*74T>A (n.*74T>A)
c.516T>A (p.Ser172=)
c.1857T>A (p.Ser619=)
1g.53213439T>CCA859290CPT2c.1821T>C (p.Ser607=)
c.1788T>C (p.Ser596=)
c.*1807T>C (n.*1807T>C)
c.*1468T>C (n.*1468T>C)
c.1752T>C (p.Ser584=)
c.*74T>C (n.*74T>C)
c.516T>C (p.Ser172=)
c.1857T>C (p.Ser619=)
 dbSNP ExAC gnomAD v2
1g.53213439T>GCA417875353CPT2c.1821T>G (p.Ser607=)
c.1788T>G (p.Ser596=)
c.*1807T>G (n.*1807T>G)
c.*1468T>G (n.*1468T>G)
c.1752T>G (p.Ser584=)
c.*74T>G (n.*74T>G)
c.516T>G (p.Ser172=)
c.1857T>G (p.Ser619=)
1g.53213439T=CA1167216359CPT2c.1821T= (p.Ser607=)
c.1788T= (p.Ser596=)
c.*1807T= (n.*1807T=)
c.*1468T= (n.*1468T=)
c.1752T= (p.Ser584=)
c.*74T= (n.*74T=)
c.516T= (p.Ser172=)
c.1857T= (p.Ser619=)
1g.53213440G>ACA340397720CPT2c.1822G>A (p.Asp608Asn)
c.1789G>A (p.Asp597Asn)
c.*1808G>A (n.*1808G>A)
c.*1469G>A (n.*1469G>A)
c.1753G>A (p.Asp585Asn)
c.*75G>A (n.*75G>A)
c.517G>A (p.Asp173Asn)
c.1858G>A (p.Asp620Asn)
1g.53213440G>CCA859291CPT2c.1822G>C (p.Asp608His)
c.1789G>C (p.Asp597His)
c.*1808G>C (n.*1808G>C)
c.*1469G>C (n.*1469G>C)
c.1753G>C (p.Asp585His)
c.*75G>C (n.*75G>C)
c.517G>C (p.Asp173His)
c.1858G>C (p.Asp620His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.53213440G=CA1167216360CPT2c.1822G= (p.Asp608=)
c.1789G= (p.Asp597=)
c.*1808G= (n.*1808G=)
c.*1469G= (n.*1469G=)
c.1753G= (p.Asp585=)
c.*75G= (n.*75G=)
c.517G= (p.Asp173=)
c.1858G= (p.Asp620=)
1g.53213440G>TCA340397721CPT2c.1822G>T (p.Asp608Tyr)
c.1789G>T (p.Asp597Tyr)
c.*1808G>T (n.*1808G>T)
c.*1469G>T (n.*1469G>T)
c.1753G>T (p.Asp585Tyr)
c.*75G>T (n.*75G>T)
c.517G>T (p.Asp173Tyr)
c.1858G>T (p.Asp620Tyr)
 dbSNP gnomAD v3 gnomAD v4
1g.53213441A=CA1167216361CPT2c.1823A= (p.Asp608=)
c.1790A= (p.Asp597=)
c.*1809A= (n.*1809A=)
c.*1470A= (n.*1470A=)
c.1754A= (p.Asp585=)
c.*76A= (n.*76A=)
c.518A= (p.Asp173=)
c.1859A= (p.Asp620=)
1g.53213441A>CCA340397722CPT2c.1823A>C (p.Asp608Ala)
c.1790A>C (p.Asp597Ala)
c.*1809A>C (n.*1809A>C)
c.*1470A>C (n.*1470A>C)
c.1754A>C (p.Asp585Ala)
c.*76A>C (n.*76A>C)
c.518A>C (p.Asp173Ala)
c.1859A>C (p.Asp620Ala)
1g.53213441A>GCA859292CPT2c.1823A>G (p.Asp608Gly)
c.1790A>G (p.Asp597Gly)
c.*1809A>G (n.*1809A>G)
c.*1470A>G (n.*1470A>G)
c.1754A>G (p.Asp585Gly)
c.*76A>G (n.*76A>G)
c.518A>G (p.Asp173Gly)
c.1859A>G (p.Asp620Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.53213441A>TCA340397723CPT2c.1823A>T (p.Asp608Val)
c.1790A>T (p.Asp597Val)
c.*1809A>T (n.*1809A>T)
c.*1470A>T (n.*1470A>T)
c.1754A>T (p.Asp585Val)
c.*76A>T (n.*76A>T)
c.518A>T (p.Asp173Val)
c.1859A>T (p.Asp620Val)
1g.53213442T>ACA340397724CPT2c.1824T>A (p.Asp608Glu)
c.1791T>A (p.Asp597Glu)
c.*1810T>A (n.*1810T>A)
c.*1471T>A (n.*1471T>A)
c.1755T>A (p.Asp585Glu)
c.*77T>A (n.*77T>A)
c.519T>A (p.Asp173Glu)
c.1860T>A (p.Asp620Glu)
1g.53213442T>CCA417875325CPT2c.1824T>C (p.Asp608=)
c.1791T>C (p.Asp597=)
c.*1810T>C (n.*1810T>C)
c.*1471T>C (n.*1471T>C)
c.1755T>C (p.Asp585=)
c.*77T>C (n.*77T>C)
c.519T>C (p.Asp173=)
c.1860T>C (p.Asp620=)
1g.53213442T>GCA340397725CPT2c.1824T>G (p.Asp608Glu)
c.1791T>G (p.Asp597Glu)
c.*1810T>G (n.*1810T>G)
c.*1471T>G (n.*1471T>G)
c.1755T>G (p.Asp585Glu)
c.*77T>G (n.*77T>G)
c.519T>G (p.Asp173Glu)
c.1860T>G (p.Asp620Glu)
1g.53213443G>ACA340397727CPT2c.1825G>A (p.Gly609Ser)
c.1792G>A (p.Gly598Ser)
c.*1811G>A (n.*1811G>A)
c.*1472G>A (n.*1472G>A)
c.1756G>A (p.Gly586Ser)
c.*78G>A (n.*78G>A)
c.520G>A (p.Gly174Ser)
c.1861G>A (p.Gly621Ser)
 ClinVar dbSNP gnomAD v4
1g.53213443G>CCA340397728CPT2c.1825G>C (p.Gly609Arg)
c.1792G>C (p.Gly598Arg)
c.*1811G>C (n.*1811G>C)
c.*1472G>C (n.*1472G>C)
c.1756G>C (p.Gly586Arg)
c.*78G>C (n.*78G>C)
c.520G>C (p.Gly174Arg)
c.1861G>C (p.Gly621Arg)
1g.53213443G=CA1167216362CPT2c.1825G= (p.Gly609=)
c.1792G= (p.Gly598=)
c.*1811G= (n.*1811G=)
c.*1472G= (n.*1472G=)
c.1756G= (p.Gly586=)
c.*78G= (n.*78G=)
c.520G= (p.Gly174=)
c.1861G= (p.Gly621=)
1g.53213443G>TCA340397726CPT2c.1825G>T (p.Gly609Cys)
c.1792G>T (p.Gly598Cys)
c.*1811G>T (n.*1811G>T)
c.*1472G>T (n.*1472G>T)
c.1756G>T (p.Gly586Cys)
c.*78G>T (n.*78G>T)
c.520G>T (p.Gly174Cys)
c.1861G>T (p.Gly621Cys)
1g.53213444G>ACA340397731CPT2c.1826G>A (p.Gly609Asp)
c.1793G>A (p.Gly598Asp)
c.*1812G>A (n.*1812G>A)
c.*1473G>A (n.*1473G>A)
c.1757G>A (p.Gly586Asp)
c.*79G>A (n.*79G>A)
c.521G>A (p.Gly174Asp)
c.1862G>A (p.Gly621Asp)
1g.53213444G>CCA340397729CPT2c.1826G>C (p.Gly609Ala)
c.1793G>C (p.Gly598Ala)
c.*1812G>C (n.*1812G>C)
c.*1473G>C (n.*1473G>C)
c.1757G>C (p.Gly586Ala)
c.*79G>C (n.*79G>C)
c.521G>C (p.Gly174Ala)
c.1862G>C (p.Gly621Ala)
1g.53213444G>TCA340397730CPT2c.1826G>T (p.Gly609Val)
c.1793G>T (p.Gly598Val)
c.*1812G>T (n.*1812G>T)
c.*1473G>T (n.*1473G>T)
c.1757G>T (p.Gly586Val)
c.*79G>T (n.*79G>T)
c.521G>T (p.Gly174Val)
c.1862G>T (p.Gly621Val)
1g.53213445C>ACA417875344CPT2c.1827C>A (p.Gly609=)
c.1794C>A (p.Gly598=)
c.*1813C>A (n.*1813C>A)
c.*1474C>A (n.*1474C>A)
c.1758C>A (p.Gly586=)
c.*80C>A (n.*80C>A)
c.522C>A (p.Gly174=)
c.1863C>A (p.Gly621=)
1g.53213445C>GCA417875349CPT2c.1827C>G (p.Gly609=)
c.1794C>G (p.Gly598=)
c.*1813C>G (n.*1813C>G)
c.*1474C>G (n.*1474C>G)
c.1758C>G (p.Gly586=)
c.*80C>G (n.*80C>G)
c.522C>G (p.Gly174=)
c.1863C>G (p.Gly621=)
1g.53213445C>TCA417875350CPT2c.1827C>T (p.Gly609=)
c.1794C>T (p.Gly598=)
c.*1813C>T (n.*1813C>T)
c.*1474C>T (n.*1474C>T)
c.1758C>T (p.Gly586=)
c.*80C>T (n.*80C>T)
c.522C>T (p.Gly174=)
c.1863C>T (p.Gly621=)
 gnomAD v4 COSMIC
1g.53213446T>ACA340397732CPT2c.1828T>A (p.Phe610Ile)
c.1795T>A (p.Phe599Ile)
c.*1814T>A (n.*1814T>A)
c.*1475T>A (n.*1475T>A)
c.1759T>A (p.Phe587Ile)
c.*81T>A (n.*81T>A)
c.523T>A (p.Phe175Ile)
c.1864T>A (p.Phe622Ile)
1g.53213446T>CCA340397733CPT2c.1828T>C (p.Phe610Leu)
c.1795T>C (p.Phe599Leu)
c.*1814T>C (n.*1814T>C)
c.*1475T>C (n.*1475T>C)
c.1759T>C (p.Phe587Leu)
c.*81T>C (n.*81T>C)
c.523T>C (p.Phe175Leu)
c.1864T>C (p.Phe622Leu)
1g.53213446T>GCA340397734CPT2c.1828T>G (p.Phe610Val)
c.1795T>G (p.Phe599Val)
c.*1814T>G (n.*1814T>G)
c.*1475T>G (n.*1475T>G)
c.1759T>G (p.Phe587Val)
c.*81T>G (n.*81T>G)
c.523T>G (p.Phe175Val)
c.1864T>G (p.Phe622Val)
1g.53213447T>ACA340397735CPT2c.1829T>A (p.Phe610Tyr)
c.1796T>A (p.Phe599Tyr)
c.*1815T>A (n.*1815T>A)
c.*1476T>A (n.*1476T>A)
c.1760T>A (p.Phe587Tyr)
c.*82T>A (n.*82T>A)
c.524T>A (p.Phe175Tyr)
c.1865T>A (p.Phe622Tyr)
1g.53213447T>CCA340397736CPT2c.1829T>C (p.Phe610Ser)
c.1796T>C (p.Phe599Ser)
c.*1815T>C (n.*1815T>C)
c.*1476T>C (n.*1476T>C)
c.1760T>C (p.Phe587Ser)
c.*82T>C (n.*82T>C)
c.524T>C (p.Phe175Ser)
c.1865T>C (p.Phe622Ser)
1g.53213447T>GCA340397737CPT2c.1829T>G (p.Phe610Cys)
c.1796T>G (p.Phe599Cys)
c.*1815T>G (n.*1815T>G)
c.*1476T>G (n.*1476T>G)
c.1760T>G (p.Phe587Cys)
c.*82T>G (n.*82T>G)
c.524T>G (p.Phe175Cys)
c.1865T>G (p.Phe622Cys)
1g.53213448T>ACA340397738CPT2c.1830T>A (p.Phe610Leu)
c.1797T>A (p.Phe599Leu)
c.*1816T>A (n.*1816T>A)
c.*1477T>A (n.*1477T>A)
c.1761T>A (p.Phe587Leu)
c.*83T>A (n.*83T>A)
c.525T>A (p.Phe175Leu)
c.1866T>A (p.Phe622Leu)
1g.53213448T>CCA417875355CPT2c.1830T>C (p.Phe610=)
c.1797T>C (p.Phe599=)
c.*1816T>C (n.*1816T>C)
c.*1477T>C (n.*1477T>C)
c.1761T>C (p.Phe587=)
c.*83T>C (n.*83T>C)
c.525T>C (p.Phe175=)
c.1866T>C (p.Phe622=)
 ClinVar dbSNP
1g.53213448T>GCA340397739CPT2c.1830T>G (p.Phe610Leu)
c.1797T>G (p.Phe599Leu)
c.*1816T>G (n.*1816T>G)
c.*1477T>G (n.*1477T>G)
c.1761T>G (p.Phe587Leu)
c.*83T>G (n.*83T>G)
c.525T>G (p.Phe175Leu)
c.1866T>G (p.Phe622Leu)
1g.53213449G>ACA340397740CPT2c.1831G>A (p.Gly611Ser)
c.1798G>A (p.Gly600Ser)
c.*1817G>A (n.*1817G>A)
c.*1478G>A (n.*1478G>A)
c.1762G>A (p.Gly588Ser)
c.*84G>A (n.*84G>A)
c.526G>A (p.Gly176Ser)
c.1867G>A (p.Gly623Ser)
1g.53213449G>CCA340397741CPT2c.1831G>C (p.Gly611Arg)
c.1798G>C (p.Gly600Arg)
c.*1817G>C (n.*1817G>C)
c.*1478G>C (n.*1478G>C)
c.1762G>C (p.Gly588Arg)
c.*84G>C (n.*84G>C)
c.526G>C (p.Gly176Arg)
c.1867G>C (p.Gly623Arg)
1g.53213449G>TCA340397742CPT2c.1831G>T (p.Gly611Cys)
c.1798G>T (p.Gly600Cys)
c.*1817G>T (n.*1817G>T)
c.*1478G>T (n.*1478G>T)
c.1762G>T (p.Gly588Cys)
c.*84G>T (n.*84G>T)
c.526G>T (p.Gly176Cys)
c.1867G>T (p.Gly623Cys)
1g.53213450G>ACA340397745CPT2c.1832G>A (p.Gly611Asp)
c.1799G>A (p.Gly600Asp)
c.*1818G>A (n.*1818G>A)
c.*1479G>A (n.*1479G>A)
c.1763G>A (p.Gly588Asp)
c.*85G>A (n.*85G>A)
c.527G>A (p.Gly176Asp)
c.1868G>A (p.Gly623Asp)
 gnomAD v4
1g.53213450G>CCA340397743CPT2c.1832G>C (p.Gly611Ala)
c.1799G>C (p.Gly600Ala)
c.*1818G>C (n.*1818G>C)
c.*1479G>C (n.*1479G>C)
c.1763G>C (p.Gly588Ala)
c.*85G>C (n.*85G>C)
c.527G>C (p.Gly176Ala)
c.1868G>C (p.Gly623Ala)
1g.53213450G=CA1167216363CPT2c.1832G= (p.Gly611=)
c.1799G= (p.Gly600=)
c.*1818G= (n.*1818G=)
c.*1479G= (n.*1479G=)
c.1763G= (p.Gly588=)
c.*85G= (n.*85G=)
c.527G= (p.Gly176=)
c.1868G= (p.Gly623=)
1g.53213450G>TCA340397744CPT2c.1832G>T (p.Gly611Val)
c.1799G>T (p.Gly600Val)
c.*1818G>T (n.*1818G>T)
c.*1479G>T (n.*1479G>T)
c.1763G>T (p.Gly588Val)
c.*85G>T (n.*85G>T)
c.527G>T (p.Gly176Val)
c.1868G>T (p.Gly623Val)
 dbSNP
1g.53213451T>ACA417875359CPT2c.1833T>A (p.Gly611=)
c.1800T>A (p.Gly600=)
c.*1819T>A (n.*1819T>A)
c.*1480T>A (n.*1480T>A)
c.1764T>A (p.Gly588=)
c.*86T>A (n.*86T>A)
c.528T>A (p.Gly176=)
c.1869T>A (p.Gly623=)
1g.53213451T>CCA417875360CPT2c.1833T>C (p.Gly611=)
c.1800T>C (p.Gly600=)
c.*1819T>C (n.*1819T>C)
c.*1480T>C (n.*1480T>C)
c.1764T>C (p.Gly588=)
c.*86T>C (n.*86T>C)
c.528T>C (p.Gly176=)
c.1869T>C (p.Gly623=)
1g.53213451T>GCA417875361CPT2c.1833T>G (p.Gly611=)
c.1800T>G (p.Gly600=)
c.*1819T>G (n.*1819T>G)
c.*1480T>G (n.*1480T>G)
c.1764T>G (p.Gly588=)
c.*86T>G (n.*86T>G)
c.528T>G (p.Gly176=)
c.1869T>G (p.Gly623=)
1g.53213452G>ACA340397746CPT2c.1834G>A (p.Val612Ile)
c.1801G>A (p.Val601Ile)
c.*1820G>A (n.*1820G>A)
c.*1481G>A (n.*1481G>A)
c.1765G>A (p.Val589Ile)
c.*87G>A (n.*87G>A)
c.529G>A (p.Val177Ile)
c.1870G>A (p.Val624Ile)
1g.53213452G>CCA340397747CPT2c.1834G>C (p.Val612Leu)
c.1801G>C (p.Val601Leu)
c.*1820G>C (n.*1820G>C)
c.*1481G>C (n.*1481G>C)
c.1765G>C (p.Val589Leu)
c.*87G>C (n.*87G>C)
c.529G>C (p.Val177Leu)
c.1870G>C (p.Val624Leu)
1g.53213452G>TCA340397748CPT2c.1834G>T (p.Val612Phe)
c.1801G>T (p.Val601Phe)
c.*1820G>T (n.*1820G>T)
c.*1481G>T (n.*1481G>T)
c.1765G>T (p.Val589Phe)
c.*87G>T (n.*87G>T)
c.529G>T (p.Val177Phe)
c.1870G>T (p.Val624Phe)
1g.53213453T>ACA340397749CPT2c.1835T>A (p.Val612Asp)
c.1802T>A (p.Val601Asp)
c.*1821T>A (n.*1821T>A)
c.*1482T>A (n.*1482T>A)
c.1766T>A (p.Val589Asp)
c.*88T>A (n.*88T>A)
c.530T>A (p.Val177Asp)
c.1871T>A (p.Val624Asp)
1g.53213453T>CCA340397750CPT2c.1835T>C (p.Val612Ala)
c.1802T>C (p.Val601Ala)
c.*1821T>C (n.*1821T>C)
c.*1482T>C (n.*1482T>C)
c.1766T>C (p.Val589Ala)
c.*88T>C (n.*88T>C)
c.530T>C (p.Val177Ala)
c.1871T>C (p.Val624Ala)
1g.53213453T>GCA340397751CPT2c.1835T>G (p.Val612Gly)
c.1802T>G (p.Val601Gly)
c.*1821T>G (n.*1821T>G)
c.*1482T>G (n.*1482T>G)
c.1766T>G (p.Val589Gly)
c.*88T>G (n.*88T>G)
c.530T>G (p.Val177Gly)
c.1871T>G (p.Val624Gly)
1g.53213454delCA2695198038CPT2c.1836del (p.Tyr614MetfsTer8)
c.1803del (p.Tyr603MetfsTer8)
c.*1822del (n.*1822del)
c.*1483del (n.*1483del)
c.1767del (p.Tyr591MetfsTer8)
c.*89del (n.*89del)
c.531del (p.Tyr179MetfsTer8)
c.1872del (p.Tyr626MetfsTer8)
 ClinVar
1g.53213454T>ACA417875362CPT2c.1836T>A (p.Val612=)
c.1803T>A (p.Val601=)
c.*1822T>A (n.*1822T>A)
c.*1483T>A (n.*1483T>A)
c.1767T>A (p.Val589=)
c.*89T>A (n.*89T>A)
c.531T>A (p.Val177=)
c.1872T>A (p.Val624=)
1g.53213454T>CCA417875363CPT2c.1836T>C (p.Val612=)
c.1803T>C (p.Val601=)
c.*1822T>C (n.*1822T>C)
c.*1483T>C (n.*1483T>C)
c.1767T>C (p.Val589=)
c.*89T>C (n.*89T>C)
c.531T>C (p.Val177=)
c.1872T>C (p.Val624=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.53213454T>GCA417875364CPT2c.1836T>G (p.Val612=)
c.1803T>G (p.Val601=)
c.*1822T>G (n.*1822T>G)
c.*1483T>G (n.*1483T>G)
c.1767T>G (p.Val589=)
c.*89T>G (n.*89T>G)
c.531T>G (p.Val177=)
c.1872T>G (p.Val624=)
1g.53213454T=CA1167216364CPT2c.1836T= (p.Val612=)
c.1803T= (p.Val601=)
c.*1822T= (n.*1822T=)
c.*1483T= (n.*1483T=)
c.1767T= (p.Val589=)
c.*89T= (n.*89T=)
c.531T= (p.Val177=)
c.1872T= (p.Val624=)
1g.53213455G>ACA22642092CPT2c.1837G>A (p.Gly613Arg)
c.1804G>A (p.Gly602Arg)
c.*1823G>A (n.*1823G>A)
c.*1484G>A (n.*1484G>A)
c.1768G>A (p.Gly590Arg)
c.*90G>A (n.*90G>A)
c.532G>A (p.Gly178Arg)
c.1873G>A (p.Gly625Arg)
 dbSNP
1g.53213455G>CCA340397752CPT2c.1837G>C (p.Gly613Arg)
c.1804G>C (p.Gly602Arg)
c.*1823G>C (n.*1823G>C)
c.*1484G>C (n.*1484G>C)
c.1768G>C (p.Gly590Arg)
c.*90G>C (n.*90G>C)
c.532G>C (p.Gly178Arg)
c.1873G>C (p.Gly625Arg)
1g.53213455G=CA1167216365CPT2c.1837G= (p.Gly613=)
c.1804G= (p.Gly602=)
c.*1823G= (n.*1823G=)
c.*1484G= (n.*1484G=)
c.1768G= (p.Gly590=)
c.*90G= (n.*90G=)
c.532G= (p.Gly178=)
c.1873G= (p.Gly625=)
1g.53213455G>TCA340397753CPT2c.1837G>T (p.Gly613Trp)
c.1804G>T (p.Gly602Trp)
c.*1823G>T (n.*1823G>T)
c.*1484G>T (n.*1484G>T)
c.1768G>T (p.Gly590Trp)
c.*90G>T (n.*90G>T)
c.532G>T (p.Gly178Trp)
c.1873G>T (p.Gly625Trp)
1g.53213456G>ACA340397754CPT2c.1838G>A (p.Gly613Glu)
c.1805G>A (p.Gly602Glu)
c.*1824G>A (n.*1824G>A)
c.*1485G>A (n.*1485G>A)
c.1769G>A (p.Gly590Glu)
c.*91G>A (n.*91G>A)
c.533G>A (p.Gly178Glu)
c.1874G>A (p.Gly625Glu)
 dbSNP gnomAD v2 gnomAD v4
1g.53213456G>CCA340397755CPT2c.1838G>C (p.Gly613Ala)
c.1805G>C (p.Gly602Ala)
c.*1824G>C (n.*1824G>C)
c.*1485G>C (n.*1485G>C)
c.1769G>C (p.Gly590Ala)
c.*91G>C (n.*91G>C)
c.533G>C (p.Gly178Ala)
c.1874G>C (p.Gly625Ala)
 ClinVar dbSNP gnomAD v4
1g.53213456G=CA1167216366CPT2c.1838G= (p.Gly613=)
c.1805G= (p.Gly602=)
c.*1824G= (n.*1824G=)
c.*1485G= (n.*1485G=)
c.1769G= (p.Gly590=)
c.*91G= (n.*91G=)
c.533G= (p.Gly178=)
c.1874G= (p.Gly625=)
1g.53213456G>TCA340397756CPT2c.1838G>T (p.Gly613Val)
c.1805G>T (p.Gly602Val)
c.*1824G>T (n.*1824G>T)
c.*1485G>T (n.*1485G>T)
c.1769G>T (p.Gly590Val)
c.*91G>T (n.*91G>T)
c.533G>T (p.Gly178Val)
c.1874G>T (p.Gly625Val)
1g.53213457G>ACA417875365CPT2c.1839G>A (p.Gly613=)
c.1806G>A (p.Gly602=)
c.*1825G>A (n.*1825G>A)
c.*1486G>A (n.*1486G>A)
c.1770G>A (p.Gly590=)
c.*92G>A (n.*92G>A)
c.534G>A (p.Gly178=)
c.1875G>A (p.Gly625=)
1g.53213457G>CCA859294CPT2c.1839G>C (p.Gly613=)
c.1806G>C (p.Gly602=)
c.*1825G>C (n.*1825G>C)
c.*1486G>C (n.*1486G>C)
c.1770G>C (p.Gly590=)
c.*92G>C (n.*92G>C)
c.534G>C (p.Gly178=)
c.1875G>C (p.Gly625=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.53213457G=CA1167216367CPT2c.1839G= (p.Gly613=)
c.1806G= (p.Gly602=)
c.*1825G= (n.*1825G=)
c.*1486G= (n.*1486G=)
c.1770G= (p.Gly590=)
c.*92G= (n.*92G=)
c.534G= (p.Gly178=)
c.1875G= (p.Gly625=)
1g.53213457G>TCA859293CPT2c.1839G>T (p.Gly613=)
c.1806G>T (p.Gly602=)
c.*1825G>T (n.*1825G>T)
c.*1486G>T (n.*1486G>T)
c.1770G>T (p.Gly590=)
c.*92G>T (n.*92G>T)
c.534G>T (p.Gly178=)
c.1875G>T (p.Gly625=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.53213458T>ACA340397757CPT2c.1840T>A (p.Tyr614Asn)
c.1807T>A (p.Tyr603Asn)
c.*1826T>A (n.*1826T>A)
c.*1487T>A (n.*1487T>A)
c.1771T>A (p.Tyr591Asn)
c.*93T>A (n.*93T>A)
c.535T>A (p.Tyr179Asn)
c.1876T>A (p.Tyr626Asn)
1g.53213458T>CCA340397758CPT2c.1840T>C (p.Tyr614His)
c.1807T>C (p.Tyr603His)
c.*1826T>C (n.*1826T>C)
c.*1487T>C (n.*1487T>C)
c.1771T>C (p.Tyr591His)
c.*93T>C (n.*93T>C)
c.535T>C (p.Tyr179His)
c.1876T>C (p.Tyr626His)
1g.53213458T>GCA340397759CPT2c.1840T>G (p.Tyr614Asp)
c.1807T>G (p.Tyr603Asp)
c.*1826T>G (n.*1826T>G)
c.*1487T>G (n.*1487T>G)
c.1771T>G (p.Tyr591Asp)
c.*93T>G (n.*93T>G)
c.535T>G (p.Tyr179Asp)
c.1876T>G (p.Tyr626Asp)
1g.53213459A>CCA340397760CPT2c.1841A>C (p.Tyr614Ser)
c.1808A>C (p.Tyr603Ser)
c.*1827A>C (n.*1827A>C)
c.*1488A>C (n.*1488A>C)
c.1772A>C (p.Tyr591Ser)
c.*94A>C (n.*94A>C)
c.536A>C (p.Tyr179Ser)
c.1877A>C (p.Tyr626Ser)
1g.53213459A>GCA340397761CPT2c.1841A>G (p.Tyr614Cys)
c.1808A>G (p.Tyr603Cys)
c.*1827A>G (n.*1827A>G)
c.*1488A>G (n.*1488A>G)
c.1772A>G (p.Tyr591Cys)
c.*94A>G (n.*94A>G)
c.536A>G (p.Tyr179Cys)
c.1877A>G (p.Tyr626Cys)
1g.53213459A>TCA340397762CPT2c.1841A>T (p.Tyr614Phe)
c.1808A>T (p.Tyr603Phe)
c.*1827A>T (n.*1827A>T)
c.*1488A>T (n.*1488A>T)
c.1772A>T (p.Tyr591Phe)
c.*94A>T (n.*94A>T)
c.536A>T (p.Tyr179Phe)
c.1877A>T (p.Tyr626Phe)
1g.53213460T>ACA340397764CPT2c.1842T>A (p.Tyr614Ter)
c.1809T>A (p.Tyr603Ter)
c.*1828T>A (n.*1828T>A)
c.*1489T>A (n.*1489T>A)
c.1773T>A (p.Tyr591Ter)
c.*95T>A (n.*95T>A)
c.537T>A (p.Tyr179Ter)
c.1878T>A (p.Tyr626Ter)
1g.53213460T>CCA859295CPT2c.1842T>C (p.Tyr614=)
c.1809T>C (p.Tyr603=)
c.*1828T>C (n.*1828T>C)
c.*1489T>C (n.*1489T>C)
c.1773T>C (p.Tyr591=)
c.*95T>C (n.*95T>C)
c.537T>C (p.Tyr179=)
c.1878T>C (p.Tyr626=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.53213460T>GCA340397763CPT2c.1842T>G (p.Tyr614Ter)
c.1809T>G (p.Tyr603Ter)
c.*1828T>G (n.*1828T>G)
c.*1489T>G (n.*1489T>G)
c.1773T>G (p.Tyr591Ter)
c.*95T>G (n.*95T>G)
c.537T>G (p.Tyr179Ter)
c.1878T>G (p.Tyr626Ter)
1g.53213460T=CA1148894538CPT2c.1842T= (p.Tyr614=)
c.1809T= (p.Tyr603=)
c.*1828T= (n.*1828T=)
c.*1489T= (n.*1489T=)
c.1773T= (p.Tyr591=)
c.*95T= (n.*95T=)
c.537T= (p.Tyr179=)
c.1878T= (p.Tyr626=)
1g.53213461G>ACA340397765CPT2c.1843G>A (p.Ala615Thr)
c.1810G>A (p.Ala604Thr)
c.*1829G>A (n.*1829G>A)
c.*1490G>A (n.*1490G>A)
c.1774G>A (p.Ala592Thr)
c.*96G>A (n.*96G>A)
c.538G>A (p.Ala180Thr)
c.1879G>A (p.Ala627Thr)
1g.53213461G>CCA340397766CPT2c.1843G>C (p.Ala615Pro)
c.1810G>C (p.Ala604Pro)
c.*1829G>C (n.*1829G>C)
c.*1490G>C (n.*1490G>C)
c.1774G>C (p.Ala592Pro)
c.*96G>C (n.*96G>C)
c.538G>C (p.Ala180Pro)
c.1879G>C (p.Ala627Pro)
1g.53213461G>TCA340397767CPT2c.1843G>T (p.Ala615Ser)
c.1810G>T (p.Ala604Ser)
c.*1829G>T (n.*1829G>T)
c.*1490G>T (n.*1490G>T)
c.1774G>T (p.Ala592Ser)
c.*96G>T (n.*96G>T)
c.538G>T (p.Ala180Ser)
c.1879G>T (p.Ala627Ser)
1g.53213462C>ACA340397768CPT2c.1844C>A (p.Ala615Asp)
c.1811C>A (p.Ala604Asp)
c.*1830C>A (n.*1830C>A)
c.*1491C>A (n.*1491C>A)
c.1775C>A (p.Ala592Asp)
c.*97C>A (n.*97C>A)
c.539C>A (p.Ala180Asp)
c.1880C>A (p.Ala627Asp)
1g.53213462C>GCA340397769CPT2c.1844C>G (p.Ala615Gly)
c.1811C>G (p.Ala604Gly)
c.*1830C>G (n.*1830C>G)
c.*1491C>G (n.*1491C>G)
c.1775C>G (p.Ala592Gly)
c.*97C>G (n.*97C>G)
c.539C>G (p.Ala180Gly)
c.1880C>G (p.Ala627Gly)
1g.53213462C>TCA340397770CPT2c.1844C>T (p.Ala615Val)
c.1811C>T (p.Ala604Val)
c.*1830C>T (n.*1830C>T)
c.*1491C>T (n.*1491C>T)
c.1775C>T (p.Ala592Val)
c.*97C>T (n.*97C>T)
c.539C>T (p.Ala180Val)
c.1880C>T (p.Ala627Val)
 gnomAD v4
1g.53213463T>ACA417875366CPT2c.1845T>A (p.Ala615=)
c.1812T>A (p.Ala604=)
c.*1831T>A (n.*1831T>A)
c.*1492T>A (n.*1492T>A)
c.1776T>A (p.Ala592=)
c.*98T>A (n.*98T>A)
c.540T>A (p.Ala180=)
c.1881T>A (p.Ala627=)
1g.53213463T>CCA417875367CPT2c.1845T>C (p.Ala615=)
c.1812T>C (p.Ala604=)
c.*1831T>C (n.*1831T>C)
c.*1492T>C (n.*1492T>C)
c.1776T>C (p.Ala592=)
c.*98T>C (n.*98T>C)
c.540T>C (p.Ala180=)
c.1881T>C (p.Ala627=)
1g.53213463T>GCA417875368CPT2c.1845T>G (p.Ala615=)
c.1812T>G (p.Ala604=)
c.*1831T>G (n.*1831T>G)
c.*1492T>G (n.*1492T>G)
c.1776T>G (p.Ala592=)
c.*98T>G (n.*98T>G)
c.540T>G (p.Ala180=)
c.1881T>G (p.Ala627=)
1g.53213464G>ACA340397771CPT2c.1846G>A (p.Val616Ile)
c.1813G>A (p.Val605Ile)
c.*1832G>A (n.*1832G>A)
c.*1493G>A (n.*1493G>A)
c.1777G>A (p.Val593Ile)
c.*99G>A (n.*99G>A)
c.541G>A (p.Val181Ile)
c.1882G>A (p.Val628Ile)
 dbSNP gnomAD v4
1g.53213464G>CCA340397773CPT2c.1846G>C (p.Val616Leu)
c.1813G>C (p.Val605Leu)
c.*1832G>C (n.*1832G>C)
c.*1493G>C (n.*1493G>C)
c.1777G>C (p.Val593Leu)
c.*99G>C (n.*99G>C)
c.541G>C (p.Val181Leu)
c.1882G>C (p.Val628Leu)
1g.53213464G=CA1167216368CPT2c.1846G= (p.Val616=)
c.1813G= (p.Val605=)
c.*1832G= (n.*1832G=)
c.*1493G= (n.*1493G=)
c.1777G= (p.Val593=)
c.*99G= (n.*99G=)
c.541G= (p.Val181=)
c.1882G= (p.Val628=)
1g.53213464G>TCA340397772CPT2c.1846G>T (p.Val616Phe)
c.1813G>T (p.Val605Phe)
c.*1832G>T (n.*1832G>T)
c.*1493G>T (n.*1493G>T)
c.1777G>T (p.Val593Phe)
c.*99G>T (n.*99G>T)
c.541G>T (p.Val181Phe)
c.1882G>T (p.Val628Phe)
1g.53213465T>ACA340397774CPT2c.1847T>A (p.Val616Asp)
c.1814T>A (p.Val605Asp)
c.*1833T>A (n.*1833T>A)
c.*1494T>A (n.*1494T>A)
c.1778T>A (p.Val593Asp)
c.*100T>A (n.*100T>A)
c.542T>A (p.Val181Asp)
c.1883T>A (p.Val628Asp)
1g.53213465T>CCA340397775CPT2c.1847T>C (p.Val616Ala)
c.1814T>C (p.Val605Ala)
c.*1833T>C (n.*1833T>C)
c.*1494T>C (n.*1494T>C)
c.1778T>C (p.Val593Ala)
c.*100T>C (n.*100T>C)
c.542T>C (p.Val181Ala)
c.1883T>C (p.Val628Ala)
1g.53213465T>GCA340397776CPT2c.1847T>G (p.Val616Gly)
c.1814T>G (p.Val605Gly)
c.*1833T>G (n.*1833T>G)
c.*1494T>G (n.*1494T>G)
c.1778T>G (p.Val593Gly)
c.*100T>G (n.*100T>G)
c.542T>G (p.Val181Gly)
c.1883T>G (p.Val628Gly)
1g.53213466T>ACA417875369CPT2c.1848T>A (p.Val616=)
c.1815T>A (p.Val605=)
c.*1834T>A (n.*1834T>A)
c.*1495T>A (n.*1495T>A)
c.1779T>A (p.Val593=)
c.*101T>A (n.*101T>A)
c.543T>A (p.Val181=)
c.1884T>A (p.Val628=)
1g.53213466T>CCA417875370CPT2c.1848T>C (p.Val616=)
c.1815T>C (p.Val605=)
c.*1834T>C (n.*1834T>C)
c.*1495T>C (n.*1495T>C)
c.1779T>C (p.Val593=)
c.*101T>C (n.*101T>C)
c.543T>C (p.Val181=)
c.1884T>C (p.Val628=)
1g.53213466T>GCA417875371CPT2c.1848T>G (p.Val616=)
c.1815T>G (p.Val605=)
c.*1834T>G (n.*1834T>G)
c.*1495T>G (n.*1495T>G)
c.1779T>G (p.Val593=)
c.*101T>G (n.*101T>G)
c.543T>G (p.Val181=)
c.1884T>G (p.Val628=)
1g.53213467C>ACA340397777CPT2c.1849C>A (p.His617Asn)
c.1816C>A (p.His606Asn)
c.*1835C>A (n.*1835C>A)
c.*1496C>A (n.*1496C>A)
c.1780C>A (p.His594Asn)
c.*102C>A (n.*102C>A)
c.544C>A (p.His182Asn)
c.1885C>A (p.His629Asn)
 dbSNP
1g.53213467C=CA1143518894CPT2c.1849C= (p.His617=)
c.1816C= (p.His606=)
c.*1835C= (n.*1835C=)
c.*1496C= (n.*1496C=)
c.1780C= (p.His594=)
c.*102C= (n.*102C=)
c.544C= (p.His182=)
c.1885C= (p.His629=)
1g.53213467C>GCA340397778CPT2c.1849C>G (p.His617Asp)
c.1816C>G (p.His606Asp)
c.*1835C>G (n.*1835C>G)
c.*1496C>G (n.*1496C>G)
c.1780C>G (p.His594Asp)
c.*102C>G (n.*102C>G)
c.544C>G (p.His182Asp)
c.1885C>G (p.His629Asp)
1g.53213467C>TCA859296CPT2c.1849C>T (p.His617Tyr)
c.1816C>T (p.His606Tyr)
c.*1835C>T (n.*1835C>T)
c.*1496C>T (n.*1496C>T)
c.1780C>T (p.His594Tyr)
c.*102C>T (n.*102C>T)
c.544C>T (p.His182Tyr)
c.1885C>T (p.His629Tyr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.53213468A=CA1167216369CPT2c.1850A= (p.His617=)
c.1817A= (p.His606=)
c.*1836A= (n.*1836A=)
c.*1497A= (n.*1497A=)
c.1781A= (p.His594=)
c.*103A= (n.*103A=)
c.545A= (p.His182=)
c.1886A= (p.His629=)
1g.53213468A>CCA340397779CPT2c.1850A>C (p.His617Pro)
c.1817A>C (p.His606Pro)
c.*1836A>C (n.*1836A>C)
c.*1497A>C (n.*1497A>C)
c.1781A>C (p.His594Pro)
c.*103A>C (n.*103A>C)
c.545A>C (p.His182Pro)
c.1886A>C (p.His629Pro)
 gnomAD v4
1g.53213468A>GCA340397780CPT2c.1850A>G (p.His617Arg)
c.1817A>G (p.His606Arg)
c.*1836A>G (n.*1836A>G)
c.*1497A>G (n.*1497A>G)
c.1781A>G (p.His594Arg)
c.*103A>G (n.*103A>G)
c.545A>G (p.His182Arg)
c.1886A>G (p.His629Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.53213468A>TCA340397781CPT2c.1850A>T (p.His617Leu)
c.1817A>T (p.His606Leu)
c.*1836A>T (n.*1836A>T)
c.*1497A>T (n.*1497A>T)
c.1781A>T (p.His594Leu)
c.*103A>T (n.*103A>T)
c.545A>T (p.His182Leu)
c.1886A>T (p.His629Leu)
1g.53213469T>ACA340397782CPT2c.1851T>A (p.His617Gln)
c.1818T>A (p.His606Gln)
c.*1837T>A (n.*1837T>A)
c.*1498T>A (n.*1498T>A)
c.1782T>A (p.His594Gln)
c.*104T>A (n.*104T>A)
c.546T>A (p.His182Gln)
c.1887T>A (p.His629Gln)
1g.53213469T>CCA859297CPT2c.1851T>C (p.His617=)
c.1818T>C (p.His606=)
c.*1837T>C (n.*1837T>C)
c.*1498T>C (n.*1498T>C)
c.1782T>C (p.His594=)
c.*104T>C (n.*104T>C)
c.546T>C (p.His182=)
c.1887T>C (p.His629=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.53213469T>GCA340397783CPT2c.1851T>G (p.His617Gln)
c.1818T>G (p.His606Gln)
c.*1837T>G (n.*1837T>G)
c.*1498T>G (n.*1498T>G)
c.1782T>G (p.His594Gln)
c.*104T>G (n.*104T>G)
c.546T>G (p.His182Gln)
c.1887T>G (p.His629Gln)
1g.53213469T=CA1145230875CPT2c.1851T= (p.His617=)
c.1818T= (p.His606=)
c.*1837T= (n.*1837T=)
c.*1498T= (n.*1498T=)
c.1782T= (p.His594=)
c.*104T= (n.*104T=)
c.546T= (p.His182=)
c.1887T= (p.His629=)
1g.53213470G>ACA859298CPT2c.1852G>A (p.Asp618Asn)
c.1819G>A (p.Asp607Asn)
c.*1838G>A (n.*1838G>A)
c.*1499G>A (n.*1499G>A)
c.1783G>A (p.Asp595Asn)
c.*105G>A (n.*105G>A)
c.547G>A (p.Asp183Asn)
c.1888G>A (p.Asp630Asn)
 dbSNP ExAC gnomAD v2
1g.53213470G>CCA340397785CPT2c.1852G>C (p.Asp618His)
c.1819G>C (p.Asp607His)
c.*1838G>C (n.*1838G>C)
c.*1499G>C (n.*1499G>C)
c.1783G>C (p.Asp595His)
c.*105G>C (n.*105G>C)
c.547G>C (p.Asp183His)
c.1888G>C (p.Asp630His)
1g.53213470G=CA1148462678CPT2c.1852G= (p.Asp618=)
c.1819G= (p.Asp607=)
c.*1838G= (n.*1838G=)
c.*1499G= (n.*1499G=)
c.1783G= (p.Asp595=)
c.*105G= (n.*105G=)
c.547G= (p.Asp183=)
c.1888G= (p.Asp630=)
1g.53213470G>TCA340397784CPT2c.1852G>T (p.Asp618Tyr)
c.1819G>T (p.Asp607Tyr)
c.*1838G>T (n.*1838G>T)
c.*1499G>T (n.*1499G>T)
c.1783G>T (p.Asp595Tyr)
c.*105G>T (n.*105G>T)
c.547G>T (p.Asp183Tyr)
c.1888G>T (p.Asp630Tyr)
1g.53213471A=CA1167216370CPT2c.1853A= (p.Asp618=)
c.1820A= (p.Asp607=)
c.*1839A= (n.*1839A=)
c.*1500A= (n.*1500A=)
c.1784A= (p.Asp595=)
c.*106A= (n.*106A=)
c.548A= (p.Asp183=)
c.1889A= (p.Asp630=)
1g.53213471A>CCA340397788CPT2c.1853A>C (p.Asp618Ala)
c.1820A>C (p.Asp607Ala)
c.*1839A>C (n.*1839A>C)
c.*1500A>C (n.*1500A>C)
c.1784A>C (p.Asp595Ala)
c.*106A>C (n.*106A>C)
c.548A>C (p.Asp183Ala)
c.1889A>C (p.Asp630Ala)
1g.53213471A>GCA340397786CPT2c.1853A>G (p.Asp618Gly)
c.1820A>G (p.Asp607Gly)
c.*1839A>G (n.*1839A>G)
c.*1500A>G (n.*1500A>G)
c.1784A>G (p.Asp595Gly)
c.*106A>G (n.*106A>G)
c.548A>G (p.Asp183Gly)
c.1889A>G (p.Asp630Gly)
 COSMIC
1g.53213471A>TCA340397787CPT2c.1853A>T (p.Asp618Val)
c.1820A>T (p.Asp607Val)
c.*1839A>T (n.*1839A>T)
c.*1500A>T (n.*1500A>T)
c.1784A>T (p.Asp595Val)
c.*106A>T (n.*106A>T)
c.548A>T (p.Asp183Val)
c.1889A>T (p.Asp630Val)
 dbSNP gnomAD v2 gnomAD v4
1g.53213472C>ACA340397789CPT2c.1854C>A (p.Asp618Glu)
c.1821C>A (p.Asp607Glu)
c.*1840C>A (n.*1840C>A)
c.*1501C>A (n.*1501C>A)
c.1785C>A (p.Asp595Glu)
c.*107C>A (n.*107C>A)
c.549C>A (p.Asp183Glu)
c.1890C>A (p.Asp630Glu)
1g.53213472C=CA1167216371CPT2c.1854C= (p.Asp618=)
c.1821C= (p.Asp607=)
c.*1840C= (n.*1840C=)
c.*1501C= (n.*1501C=)
c.1785C= (p.Asp595=)
c.*107C= (n.*107C=)
c.549C= (p.Asp183=)
c.1890C= (p.Asp630=)
1g.53213472C>GCA340397790CPT2c.1854C>G (p.Asp618Glu)
c.1821C>G (p.Asp607Glu)
c.*1840C>G (n.*1840C>G)
c.*1501C>G (n.*1501C>G)
c.1785C>G (p.Asp595Glu)
c.*107C>G (n.*107C>G)
c.549C>G (p.Asp183Glu)
c.1890C>G (p.Asp630Glu)
1g.53213472C>TCA417875372CPT2c.1854C>T (p.Asp618=)
c.1821C>T (p.Asp607=)
c.*1840C>T (n.*1840C>T)
c.*1501C>T (n.*1501C>T)
c.1785C>T (p.Asp595=)
c.*107C>T (n.*107C>T)
c.549C>T (p.Asp183=)
c.1890C>T (p.Asp630=)
 ClinVar dbSNP gnomAD v4
1g.53213473A>CCA340397791CPT2c.1855A>C (p.Asn619His)
c.1822A>C (p.Asn608His)
c.*1841A>C (n.*1841A>C)
c.*1502A>C (n.*1502A>C)
c.1786A>C (p.Asn596His)
c.*108A>C (n.*108A>C)
c.550A>C (p.Asn184His)
c.1891A>C (p.Asn631His)
1g.53213473A>GCA340397792CPT2c.1855A>G (p.Asn619Asp)
c.1822A>G (p.Asn608Asp)
c.*1841A>G (n.*1841A>G)
c.*1502A>G (n.*1502A>G)
c.1786A>G (p.Asn596Asp)
c.*108A>G (n.*108A>G)
c.550A>G (p.Asn184Asp)
c.1891A>G (p.Asn631Asp)
1g.53213473A>TCA340397793CPT2c.1855A>T (p.Asn619Tyr)
c.1822A>T (p.Asn608Tyr)
c.*1841A>T (n.*1841A>T)
c.*1502A>T (n.*1502A>T)
c.1786A>T (p.Asn596Tyr)
c.*108A>T (n.*108A>T)
c.550A>T (p.Asn184Tyr)
c.1891A>T (p.Asn631Tyr)
1g.53213474A>CCA340397794CPT2c.1856A>C (p.Asn619Thr)
c.1823A>C (p.Asn608Thr)
c.*1842A>C (n.*1842A>C)
c.*1503A>C (n.*1503A>C)
c.1787A>C (p.Asn596Thr)
c.*109A>C (n.*109A>C)
c.551A>C (p.Asn184Thr)
c.1892A>C (p.Asn631Thr)
1g.53213474A>GCA340397795CPT2c.1856A>G (p.Asn619Ser)
c.1823A>G (p.Asn608Ser)
c.*1842A>G (n.*1842A>G)
c.*1503A>G (n.*1503A>G)
c.1787A>G (p.Asn596Ser)
c.*109A>G (n.*109A>G)
c.551A>G (p.Asn184Ser)
c.1892A>G (p.Asn631Ser)
 gnomAD v4
1g.53213474A>TCA340397796CPT2c.1856A>T (p.Asn619Ile)
c.1823A>T (p.Asn608Ile)
c.*1842A>T (n.*1842A>T)
c.*1503A>T (n.*1503A>T)
c.1787A>T (p.Asn596Ile)
c.*109A>T (n.*109A>T)
c.551A>T (p.Asn184Ile)
c.1892A>T (p.Asn631Ile)
1g.53213475C>ACA340397797CPT2c.1857C>A (p.Asn619Lys)
c.1824C>A (p.Asn608Lys)
c.*1843C>A (n.*1843C>A)
c.*1504C>A (n.*1504C>A)
c.1788C>A (p.Asn596Lys)
c.*110C>A (n.*110C>A)
c.552C>A (p.Asn184Lys)
c.1893C>A (p.Asn631Lys)
1g.53213475C=CA1167216372CPT2c.1857C= (p.Asn619=)
c.1824C= (p.Asn608=)
c.*1843C= (n.*1843C=)
c.*1504C= (n.*1504C=)
c.1788C= (p.Asn596=)
c.*110C= (n.*110C=)
c.552C= (p.Asn184=)
c.1893C= (p.Asn631=)
1g.53213475C>GCA340397798CPT2c.1857C>G (p.Asn619Lys)
c.1824C>G (p.Asn608Lys)
c.*1843C>G (n.*1843C>G)
c.*1504C>G (n.*1504C>G)
c.1788C>G (p.Asn596Lys)
c.*110C>G (n.*110C>G)
c.552C>G (p.Asn184Lys)
c.1893C>G (p.Asn631Lys)
1g.53213475C>TCA859299CPT2c.1857C>T (p.Asn619=)
c.1824C>T (p.Asn608=)
c.*1843C>T (n.*1843C>T)
c.*1504C>T (n.*1504C>T)
c.1788C>T (p.Asn596=)
c.*110C>T (n.*110C>T)
c.552C>T (p.Asn184=)
c.1893C>T (p.Asn631=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.53213476T>ACA340397800CPT2c.1858T>A (p.Trp620Arg)
c.1825T>A (p.Trp609Arg)
c.*1844T>A (n.*1844T>A)
c.*1505T>A (n.*1505T>A)
c.1789T>A (p.Trp597Arg)
c.*111T>A (n.*111T>A)
c.553T>A (p.Trp185Arg)
c.1894T>A (p.Trp632Arg)
1g.53213476T>CCA22642117CPT2c.1858T>C (p.Trp620Arg)
c.1825T>C (p.Trp609Arg)
c.*1844T>C (n.*1844T>C)
c.*1505T>C (n.*1505T>C)
c.1789T>C (p.Trp597Arg)
c.*111T>C (n.*111T>C)
c.553T>C (p.Trp185Arg)
c.1894T>C (p.Trp632Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.53213476T>GCA340397799CPT2c.1858T>G (p.Trp620Gly)
c.1825T>G (p.Trp609Gly)
c.*1844T>G (n.*1844T>G)
c.*1505T>G (n.*1505T>G)
c.1789T>G (p.Trp597Gly)
c.*111T>G (n.*111T>G)
c.553T>G (p.Trp185Gly)
c.1894T>G (p.Trp632Gly)
 dbSNP
1g.53213476T=CA1167216373CPT2c.1858T= (p.Trp620=)
c.1825T= (p.Trp609=)
c.*1844T= (n.*1844T=)
c.*1505T= (n.*1505T=)
c.1789T= (p.Trp597=)
c.*111T= (n.*111T=)
c.553T= (p.Trp185=)
c.1894T= (p.Trp632=)
1g.53213477G>ACA340397801CPT2c.1859G>A (p.Trp620Ter)
c.1826G>A (p.Trp609Ter)
c.*1845G>A (n.*1845G>A)
c.*1506G>A (n.*1506G>A)
c.1790G>A (p.Trp597Ter)
c.*112G>A (n.*112G>A)
c.554G>A (p.Trp185Ter)
c.1895G>A (p.Trp632Ter)
 ClinVar dbSNP gnomAD v4
1g.53213477G>CCA340397802CPT2c.1859G>C (p.Trp620Ser)
c.1826G>C (p.Trp609Ser)
c.*1845G>C (n.*1845G>C)
c.*1506G>C (n.*1506G>C)
c.1790G>C (p.Trp597Ser)
c.*112G>C (n.*112G>C)
c.554G>C (p.Trp185Ser)
c.1895G>C (p.Trp632Ser)
1g.53213477G=CA1167216374CPT2c.1859G= (p.Trp620=)
c.1826G= (p.Trp609=)
c.*1845G= (n.*1845G=)
c.*1506G= (n.*1506G=)
c.1790G= (p.Trp597=)
c.*112G= (n.*112G=)
c.554G= (p.Trp185=)
c.1895G= (p.Trp632=)
1g.53213477G>TCA340397803CPT2c.1859G>T (p.Trp620Leu)
c.1826G>T (p.Trp609Leu)
c.*1845G>T (n.*1845G>T)
c.*1506G>T (n.*1506G>T)
c.1790G>T (p.Trp597Leu)
c.*112G>T (n.*112G>T)
c.554G>T (p.Trp185Leu)
c.1895G>T (p.Trp632Leu)
1g.53213478G>ACA340397804CPT2c.1860G>A (p.Trp620Ter)
c.1827G>A (p.Trp609Ter)
c.*1846G>A (n.*1846G>A)
c.*1507G>A (n.*1507G>A)
c.1791G>A (p.Trp597Ter)
c.*113G>A (n.*113G>A)
c.555G>A (p.Trp185Ter)
c.1896G>A (p.Trp632Ter)
1g.53213478G>CCA340397805CPT2c.1860G>C (p.Trp620Cys)
c.1827G>C (p.Trp609Cys)
c.*1846G>C (n.*1846G>C)
c.*1507G>C (n.*1507G>C)
c.1791G>C (p.Trp597Cys)
c.*113G>C (n.*113G>C)
c.555G>C (p.Trp185Cys)
c.1896G>C (p.Trp632Cys)
 gnomAD v4
1g.53213478G>TCA340397806CPT2c.1860G>T (p.Trp620Cys)
c.1827G>T (p.Trp609Cys)
c.*1846G>T (n.*1846G>T)
c.*1507G>T (n.*1507G>T)
c.1791G>T (p.Trp597Cys)
c.*113G>T (n.*113G>T)
c.555G>T (p.Trp185Cys)
c.1896G>T (p.Trp632Cys)
 gnomAD v4
1g.53213479A=CA1167216375CPT2c.1861A= (p.Ile621=)
c.1828A= (p.Ile610=)
c.*1847A= (n.*1847A=)
c.*1508A= (n.*1508A=)
c.1792A= (p.Ile598=)
c.*114A= (n.*114A=)
c.556A= (p.Ile186=)
c.1897A= (p.Ile633=)
1g.53213479A>CCA340397807CPT2c.1861A>C (p.Ile621Leu)
c.1828A>C (p.Ile610Leu)
c.*1847A>C (n.*1847A>C)
c.*1508A>C (n.*1508A>C)
c.1792A>C (p.Ile598Leu)
c.*114A>C (n.*114A>C)
c.556A>C (p.Ile186Leu)
c.1897A>C (p.Ile633Leu)
 ClinVar dbSNP
1g.53213479A>GCA340397808CPT2c.1861A>G (p.Ile621Val)
c.1828A>G (p.Ile610Val)
c.*1847A>G (n.*1847A>G)
c.*1508A>G (n.*1508A>G)
c.1792A>G (p.Ile598Val)
c.*114A>G (n.*114A>G)
c.556A>G (p.Ile186Val)
c.1897A>G (p.Ile633Val)
1g.53213479A>TCA340397809CPT2c.1861A>T (p.Ile621Leu)
c.1828A>T (p.Ile610Leu)
c.*1847A>T (n.*1847A>T)
c.*1508A>T (n.*1508A>T)
c.1792A>T (p.Ile598Leu)
c.*114A>T (n.*114A>T)
c.556A>T (p.Ile186Leu)
c.1897A>T (p.Ile633Leu)
1g.53213480T>ACA340397810CPT2c.1862T>A (p.Ile621Lys)
c.1829T>A (p.Ile610Lys)
c.*1848T>A (n.*1848T>A)
c.*1509T>A (n.*1509T>A)
c.1793T>A (p.Ile598Lys)
c.*115T>A (n.*115T>A)
c.557T>A (p.Ile186Lys)
c.1898T>A (p.Ile633Lys)
1g.53213480T>CCA340397811CPT2c.1862T>C (p.Ile621Thr)
c.1829T>C (p.Ile610Thr)
c.*1848T>C (n.*1848T>C)
c.*1509T>C (n.*1509T>C)
c.1793T>C (p.Ile598Thr)
c.*115T>C (n.*115T>C)
c.557T>C (p.Ile186Thr)
c.1898T>C (p.Ile633Thr)
 ClinVar dbSNP gnomAD v4
1g.53213480T>GCA340397812CPT2c.1862T>G (p.Ile621Arg)
c.1829T>G (p.Ile610Arg)
c.*1848T>G (n.*1848T>G)
c.*1509T>G (n.*1509T>G)
c.1793T>G (p.Ile598Arg)
c.*115T>G (n.*115T>G)
c.557T>G (p.Ile186Arg)
c.1898T>G (p.Ile633Arg)
1g.53213480T=CA1167216377CPT2c.1862T= (p.Ile621=)
c.1829T= (p.Ile610=)
c.*1848T= (n.*1848T=)
c.*1509T= (n.*1509T=)
c.1793T= (p.Ile598=)
c.*115T= (n.*115T=)
c.557T= (p.Ile186=)
c.1898T= (p.Ile633=)
1g.53213480_53213504delCA913075697CPT2c.1862_1886del (p.Ile621LysfsTer16)
c.1829_1853del (p.Ile610LysfsTer16)
c.*1848_*1872del (n.*1848_*1872del)
c.*1509_*1533del (n.*1509_*1533del)
c.1793_1817del (p.Ile598LysfsTer16)
c.*115_*139del (n.*115_*139del)
c.557_581del (p.Ile186LysfsTer16)
c.1898_1922del (p.Ile633LysfsTer16)
1g.53213480_53213504delinsTAGGCTGCAATGTCTCTTCCTACCCCA1167216376CPT2c.1862_1886delinsTAGGCTGCAATGTCTCTTCCTACCC (p.Ile621=)
c.1829_1853delinsTAGGCTGCAATGTCTCTTCCTACCC (p.Ile610=)
c.*1848_*1872delinsTAGGCTGCAATGTCTCTTCCTACCC (n.*1848_*1872delinsTAGGCTGCAATGTCTCTTCCTACCC)
c.*1509_*1533delinsTAGGCTGCAATGTCTCTTCCTACCC (n.*1509_*1533delinsTAGGCTGCAATGTCTCTTCCTACCC)
c.1793_1817delinsTAGGCTGCAATGTCTCTTCCTACCC (p.Ile598=)
c.*115_*139delinsTAGGCTGCAATGTCTCTTCCTACCC (n.*115_*139delinsTAGGCTGCAATGTCTCTTCCTACCC)
c.557_581delinsTAGGCTGCAATGTCTCTTCCTACCC (p.Ile186=)
c.1898_1922delinsTAGGCTGCAATGTCTCTTCCTACCC (p.Ile633=)
1g.53213481A>CCA417875374CPT2c.1863A>C (p.Ile621=)
c.1830A>C (p.Ile610=)
c.*1849A>C (n.*1849A>C)
c.*1510A>C (n.*1510A>C)
c.1794A>C (p.Ile598=)
c.*116A>C (n.*116A>C)
c.558A>C (p.Ile186=)
c.1899A>C (p.Ile633=)
1g.53213481A>GCA340397813CPT2c.1863A>G (p.Ile621Met)
c.1830A>G (p.Ile610Met)
c.*1849A>G (n.*1849A>G)
c.*1510A>G (n.*1510A>G)
c.1794A>G (p.Ile598Met)
c.*116A>G (n.*116A>G)
c.558A>G (p.Ile186Met)
c.1899A>G (p.Ile633Met)
 gnomAD v4
1g.53213481A>TCA417875373CPT2c.1863A>T (p.Ile621=)
c.1830A>T (p.Ile610=)
c.*1849A>T (n.*1849A>T)
c.*1510A>T (n.*1510A>T)
c.1794A>T (p.Ile598=)
c.*116A>T (n.*116A>T)
c.558A>T (p.Ile186=)
c.1899A>T (p.Ile633=)
1g.53213485_53213508delCA658821050CPT2c.1867_1890del (p.Cys623_Gly630del)
c.1834_1857del (p.Cys612_Gly619del)
c.*1853_*1876del (n.*1853_*1876del)
c.*1514_*1537del (n.*1514_*1537del)
c.1798_1821del (p.Cys600_Gly607del)
c.*120_*143del (n.*120_*143del)
c.562_585del (p.Cys188_Gly195del)
c.1903_1926del (p.Cys635_Gly642del)
 ClinVar dbSNP gnomAD v4
1g.53213482G>ACA340397815CPT2c.1864G>A (p.Gly622Ser)
c.1831G>A (p.Gly611Ser)
c.*1850G>A (n.*1850G>A)
c.*1511G>A (n.*1511G>A)
c.1795G>A (p.Gly599Ser)
c.*117G>A (n.*117G>A)
c.559G>A (p.Gly187Ser)
c.1900G>A (p.Gly634Ser)
1g.53213482G>CCA340397816CPT2c.1864G>C (p.Gly622Arg)
c.1831G>C (p.Gly611Arg)
c.*1850G>C (n.*1850G>C)
c.*1511G>C (n.*1511G>C)
c.1795G>C (p.Gly599Arg)
c.*117G>C (n.*117G>C)
c.559G>C (p.Gly187Arg)
c.1900G>C (p.Gly634Arg)
1g.53213482G>TCA340397814CPT2c.1864G>T (p.Gly622Cys)
c.1831G>T (p.Gly611Cys)
c.*1850G>T (n.*1850G>T)
c.*1511G>T (n.*1511G>T)
c.1795G>T (p.Gly599Cys)
c.*117G>T (n.*117G>T)
c.559G>T (p.Gly187Cys)
c.1900G>T (p.Gly634Cys)
1g.53213483G>ACA859300CPT2c.1865G>A (p.Gly622Asp)
c.1832G>A (p.Gly611Asp)
c.*1851G>A (n.*1851G>A)
c.*1512G>A (n.*1512G>A)
c.1796G>A (p.Gly599Asp)
c.*118G>A (n.*118G>A)
c.560G>A (p.Gly187Asp)
c.1901G>A (p.Gly634Asp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.53213483G>CCA340397817CPT2c.1865G>C (p.Gly622Ala)
c.1832G>C (p.Gly611Ala)
c.*1851G>C (n.*1851G>C)
c.*1512G>C (n.*1512G>C)
c.1796G>C (p.Gly599Ala)
c.*118G>C (n.*118G>C)
c.560G>C (p.Gly187Ala)
c.1901G>C (p.Gly634Ala)
1g.53213483G=CA1147227767CPT2c.1865G= (p.Gly622=)
c.1832G= (p.Gly611=)
c.*1851G= (n.*1851G=)
c.*1512G= (n.*1512G=)
c.1796G= (p.Gly599=)
c.*118G= (n.*118G=)
c.560G= (p.Gly187=)
c.1901G= (p.Gly634=)
1g.53213483G>TCA340397818CPT2c.1865G>T (p.Gly622Val)
c.1832G>T (p.Gly611Val)
c.*1851G>T (n.*1851G>T)
c.*1512G>T (n.*1512G>T)
c.1796G>T (p.Gly599Val)
c.*118G>T (n.*118G>T)
c.560G>T (p.Gly187Val)
c.1901G>T (p.Gly634Val)
1g.53213484C>ACA417875375CPT2c.1866C>A (p.Gly622=)
c.1833C>A (p.Gly611=)
c.*1852C>A (n.*1852C>A)
c.*1513C>A (n.*1513C>A)
c.1797C>A (p.Gly599=)
c.*119C>A (n.*119C>A)
c.561C>A (p.Gly187=)
c.1902C>A (p.Gly634=)
1g.53213484C>GCA417875376CPT2c.1866C>G (p.Gly622=)
c.1833C>G (p.Gly611=)
c.*1852C>G (n.*1852C>G)
c.*1513C>G (n.*1513C>G)
c.1797C>G (p.Gly599=)
c.*119C>G (n.*119C>G)
c.561C>G (p.Gly187=)
c.1902C>G (p.Gly634=)
1g.53213484C>TCA417875377CPT2c.1866C>T (p.Gly622=)
c.1833C>T (p.Gly611=)
c.*1852C>T (n.*1852C>T)
c.*1513C>T (n.*1513C>T)
c.1797C>T (p.Gly599=)
c.*119C>T (n.*119C>T)
c.561C>T (p.Gly187=)
c.1902C>T (p.Gly634=)
1g.53213485T>ACA340397819CPT2c.1867T>A (p.Cys623Ser)
c.1834T>A (p.Cys612Ser)
c.*1853T>A (n.*1853T>A)
c.*1514T>A (n.*1514T>A)
c.1798T>A (p.Cys600Ser)
c.*120T>A (n.*120T>A)
c.562T>A (p.Cys188Ser)
c.1903T>A (p.Cys635Ser)
1g.53213485T>CCA340397820CPT2c.1867T>C (p.Cys623Arg)
c.1834T>C (p.Cys612Arg)
c.*1853T>C (n.*1853T>C)
c.*1514T>C (n.*1514T>C)
c.1798T>C (p.Cys600Arg)
c.*120T>C (n.*120T>C)
c.562T>C (p.Cys188Arg)
c.1903T>C (p.Cys635Arg)
1g.53213485T>GCA340397821CPT2c.1867T>G (p.Cys623Gly)
c.1834T>G (p.Cys612Gly)
c.*1853T>G (n.*1853T>G)
c.*1514T>G (n.*1514T>G)
c.1798T>G (p.Cys600Gly)
c.*120T>G (n.*120T>G)
c.562T>G (p.Cys188Gly)
c.1903T>G (p.Cys635Gly)
1g.53213486G>ACA859301CPT2c.1868G>A (p.Cys623Tyr)
c.1835G>A (p.Cys612Tyr)
c.*1854G>A (n.*1854G>A)
c.*1515G>A (n.*1515G>A)
c.1799G>A (p.Cys600Tyr)
c.*121G>A (n.*121G>A)
c.563G>A (p.Cys188Tyr)
c.1904G>A (p.Cys635Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.53213486G>CCA340397822CPT2c.1868G>C (p.Cys623Ser)
c.1835G>C (p.Cys612Ser)
c.*1854G>C (n.*1854G>C)
c.*1515G>C (n.*1515G>C)
c.1799G>C (p.Cys600Ser)
c.*121G>C (n.*121G>C)
c.563G>C (p.Cys188Ser)
c.1904G>C (p.Cys635Ser)
1g.53213486G=CA1167216378CPT2c.1868G= (p.Cys623=)
c.1835G= (p.Cys612=)
c.*1854G= (n.*1854G=)
c.*1515G= (n.*1515G=)
c.1799G= (p.Cys600=)
c.*121G= (n.*121G=)
c.563G= (p.Cys188=)
c.1904G= (p.Cys635=)
1g.53213486G>TCA340397823CPT2c.1868G>T (p.Cys623Phe)
c.1835G>T (p.Cys612Phe)
c.*1854G>T (n.*1854G>T)
c.*1515G>T (n.*1515G>T)
c.1799G>T (p.Cys600Phe)
c.*121G>T (n.*121G>T)
c.563G>T (p.Cys188Phe)
c.1904G>T (p.Cys635Phe)
1g.53213492_53213515delCA2574373983CPT2c.1874_1897del (p.Val625_Asn632del)
c.1841_1864del (p.Val614_Asn621del)
c.*1860_*1883del (n.*1860_*1883del)
c.*1521_*1544del (n.*1521_*1544del)
c.1805_1828del (p.Val602_Asn609del)
c.*127_*150del (n.*127_*150del)
c.569_592del (p.Val190_Asn197del)
c.1910_1933del (p.Val637_Asn644del)
1g.53213487C>ACA340397824CPT2c.1869C>A (p.Cys623Ter)
c.1836C>A (p.Cys612Ter)
c.*1855C>A (n.*1855C>A)
c.*1516C>A (n.*1516C>A)
c.1800C>A (p.Cys600Ter)
c.*122C>A (n.*122C>A)
c.564C>A (p.Cys188Ter)
c.1905C>A (p.Cys635Ter)
1g.53213487C=CA1167216379CPT2c.1869C= (p.Cys623=)
c.1836C= (p.Cys612=)
c.*1855C= (n.*1855C=)
c.*1516C= (n.*1516C=)
c.1800C= (p.Cys600=)
c.*122C= (n.*122C=)
c.564C= (p.Cys188=)
c.1905C= (p.Cys635=)
1g.53213487C>GCA340397825CPT2c.1869C>G (p.Cys623Trp)
c.1836C>G (p.Cys612Trp)
c.*1855C>G (n.*1855C>G)
c.*1516C>G (n.*1516C>G)
c.1800C>G (p.Cys600Trp)
c.*122C>G (n.*122C>G)
c.564C>G (p.Cys188Trp)
c.1905C>G (p.Cys635Trp)
1g.53213487C>TCA417875378CPT2c.1869C>T (p.Cys623=)
c.1836C>T (p.Cys612=)
c.*1855C>T (n.*1855C>T)
c.*1516C>T (n.*1516C>T)
c.1800C>T (p.Cys600=)
c.*122C>T (n.*122C>T)
c.564C>T (p.Cys188=)
c.1905C>T (p.Cys635=)
 ClinVar dbSNP gnomAD v4
1g.53213488A>CCA340397828CPT2c.1870A>C (p.Asn624His)
c.1837A>C (p.Asn613His)
c.*1856A>C (n.*1856A>C)
c.*1517A>C (n.*1517A>C)
c.1801A>C (p.Asn601His)
c.*123A>C (n.*123A>C)
c.565A>C (p.Asn189His)
c.1906A>C (p.Asn636His)
 gnomAD v4
1g.53213488A>GCA340397827CPT2c.1870A>G (p.Asn624Asp)
c.1837A>G (p.Asn613Asp)
c.*1856A>G (n.*1856A>G)
c.*1517A>G (n.*1517A>G)
c.1801A>G (p.Asn601Asp)
c.*123A>G (n.*123A>G)
c.565A>G (p.Asn189Asp)
c.1906A>G (p.Asn636Asp)
1g.53213488A>TCA340397826CPT2c.1870A>T (p.Asn624Tyr)
c.1837A>T (p.Asn613Tyr)
c.*1856A>T (n.*1856A>T)
c.*1517A>T (n.*1517A>T)
c.1801A>T (p.Asn601Tyr)
c.*123A>T (n.*123A>T)
c.565A>T (p.Asn189Tyr)
c.1906A>T (p.Asn636Tyr)
1g.53213489A=CA1167216380CPT2c.1871A= (p.Asn624=)
c.1838A= (p.Asn613=)
c.*1857A= (n.*1857A=)
c.*1518A= (n.*1518A=)
c.1802A= (p.Asn601=)
c.*124A= (n.*124A=)
c.566A= (p.Asn189=)
c.1907A= (p.Asn636=)
1g.53213489A>CCA340397829CPT2c.1871A>C (p.Asn624Thr)
c.1838A>C (p.Asn613Thr)
c.*1857A>C (n.*1857A>C)
c.*1518A>C (n.*1518A>C)
c.1802A>C (p.Asn601Thr)
c.*124A>C (n.*124A>C)
c.566A>C (p.Asn189Thr)
c.1907A>C (p.Asn636Thr)
1g.53213489A>GCA340397830CPT2c.1871A>G (p.Asn624Ser)
c.1838A>G (p.Asn613Ser)
c.*1857A>G (n.*1857A>G)
c.*1518A>G (n.*1518A>G)
c.1802A>G (p.Asn601Ser)
c.*124A>G (n.*124A>G)
c.566A>G (p.Asn189Ser)
c.1907A>G (p.Asn636Ser)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.53213489A>TCA340397831CPT2c.1871A>T (p.Asn624Ile)
c.1838A>T (p.Asn613Ile)
c.*1857A>T (n.*1857A>T)
c.*1518A>T (n.*1518A>T)
c.1802A>T (p.Asn601Ile)
c.*124A>T (n.*124A>T)
c.566A>T (p.Asn189Ile)
c.1907A>T (p.Asn636Ile)
1g.53213490T>ACA340397832CPT2c.1872T>A (p.Asn624Lys)
c.1839T>A (p.Asn613Lys)
c.*1858T>A (n.*1858T>A)
c.*1519T>A (n.*1519T>A)
c.1803T>A (p.Asn601Lys)
c.*125T>A (n.*125T>A)
c.567T>A (p.Asn189Lys)
c.1908T>A (p.Asn636Lys)
1g.53213490T>CCA22642134CPT2c.1872T>C (p.Asn624=)
c.1839T>C (p.Asn613=)
c.*1858T>C (n.*1858T>C)
c.*1519T>C (n.*1519T>C)
c.1803T>C (p.Asn601=)
c.*125T>C (n.*125T>C)
c.567T>C (p.Asn189=)
c.1908T>C (p.Asn636=)
 ClinVar dbSNP gnomAD v4
1g.53213490T>GCA340397833CPT2c.1872T>G (p.Asn624Lys)
c.1839T>G (p.Asn613Lys)
c.*1858T>G (n.*1858T>G)
c.*1519T>G (n.*1519T>G)
c.1803T>G (p.Asn601Lys)
c.*125T>G (n.*125T>G)
c.567T>G (p.Asn189Lys)
c.1908T>G (p.Asn636Lys)
1g.53213490T=CA1167216381CPT2c.1872T= (p.Asn624=)
c.1839T= (p.Asn613=)
c.*1858T= (n.*1858T=)
c.*1519T= (n.*1519T=)
c.1803T= (p.Asn601=)
c.*125T= (n.*125T=)
c.567T= (p.Asn189=)
c.1908T= (p.Asn636=)
1g.53213491_53213492dupCA2645711438CPT2c.1873_1874dup (p.Ser627LeufsTer19)
c.1840_1841dup (p.Ser616LeufsTer19)
c.*1859_*1860dup (n.*1859_*1860dup)
c.*1520_*1521dup (n.*1520_*1521dup)
c.1804_1805dup (p.Ser604LeufsTer19)
c.*126_*127dup (n.*126_*127dup)
c.568_569dup (p.Ser192LeufsTer19)
c.1909_1910dup (p.Ser639LeufsTer19)
 gnomAD v4
1g.53213491G>ACA340397834CPT2c.1873G>A (p.Val625Ile)
c.1840G>A (p.Val614Ile)
c.*1859G>A (n.*1859G>A)
c.*1520G>A (n.*1520G>A)
c.1804G>A (p.Val602Ile)
c.*126G>A (n.*126G>A)
c.568G>A (p.Val190Ile)
c.1909G>A (p.Val637Ile)
1g.53213491G>CCA340397835CPT2c.1873G>C (p.Val625Leu)
c.1840G>C (p.Val614Leu)
c.*1859G>C (n.*1859G>C)
c.*1520G>C (n.*1520G>C)
c.1804G>C (p.Val602Leu)
c.*126G>C (n.*126G>C)
c.568G>C (p.Val190Leu)
c.1909G>C (p.Val637Leu)
1g.53213491G>TCA340397836CPT2c.1873G>T (p.Val625Phe)
c.1840G>T (p.Val614Phe)
c.*1859G>T (n.*1859G>T)
c.*1520G>T (n.*1520G>T)
c.1804G>T (p.Val602Phe)
c.*126G>T (n.*126G>T)
c.568G>T (p.Val190Phe)
c.1909G>T (p.Val637Phe)
1g.53213492T>ACA340397837CPT2c.1874T>A (p.Val625Asp)
c.1841T>A (p.Val614Asp)
c.*1860T>A (n.*1860T>A)
c.*1521T>A (n.*1521T>A)
c.1805T>A (p.Val602Asp)
c.*127T>A (n.*127T>A)
c.569T>A (p.Val190Asp)
c.1910T>A (p.Val637Asp)
1g.53213492T>CCA340397838CPT2c.1874T>C (p.Val625Ala)
c.1841T>C (p.Val614Ala)
c.*1860T>C (n.*1860T>C)
c.*1521T>C (n.*1521T>C)
c.1805T>C (p.Val602Ala)
c.*127T>C (n.*127T>C)
c.569T>C (p.Val190Ala)
c.1910T>C (p.Val637Ala)
 ClinVar
1g.53213492T>GCA340397839CPT2c.1874T>G (p.Val625Gly)
c.1841T>G (p.Val614Gly)
c.*1860T>G (n.*1860T>G)
c.*1521T>G (n.*1521T>G)
c.1805T>G (p.Val602Gly)
c.*127T>G (n.*127T>G)
c.569T>G (p.Val190Gly)
c.1910T>G (p.Val637Gly)
1g.53213493C>ACA417875379CPT2c.1875C>A (p.Val625=)
c.1842C>A (p.Val614=)
c.*1861C>A (n.*1861C>A)
c.*1522C>A (n.*1522C>A)
c.1806C>A (p.Val602=)
c.*128C>A (n.*128C>A)
c.570C>A (p.Val190=)
c.1911C>A (p.Val637=)
1g.53213493C=CA1167216382CPT2c.1875C= (p.Val625=)
c.1842C= (p.Val614=)
c.*1861C= (n.*1861C=)
c.*1522C= (n.*1522C=)
c.1806C= (p.Val602=)
c.*128C= (n.*128C=)
c.570C= (p.Val190=)
c.1911C= (p.Val637=)
1g.53213493C>GCA859302CPT2c.1875C>G (p.Val625=)
c.1842C>G (p.Val614=)
c.*1861C>G (n.*1861C>G)
c.*1522C>G (n.*1522C>G)
c.1806C>G (p.Val602=)
c.*128C>G (n.*128C>G)
c.570C>G (p.Val190=)
c.1911C>G (p.Val637=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.53213493C>TCA417875380CPT2c.1875C>T (p.Val625=)
c.1842C>T (p.Val614=)
c.*1861C>T (n.*1861C>T)
c.*1522C>T (n.*1522C>T)
c.1806C>T (p.Val602=)
c.*128C>T (n.*128C>T)
c.570C>T (p.Val190=)
c.1911C>T (p.Val637=)
1g.53213494T>ACA340397841CPT2c.1876T>A (p.Ser626Thr)
c.1843T>A (p.Ser615Thr)
c.*1862T>A (n.*1862T>A)
c.*1523T>A (n.*1523T>A)
c.1807T>A (p.Ser603Thr)
c.*129T>A (n.*129T>A)
c.571T>A (p.Ser191Thr)
c.1912T>A (p.Ser638Thr)
1g.53213494T>CCA340397840CPT2c.1876T>C (p.Ser626Pro)
c.1843T>C (p.Ser615Pro)
c.*1862T>C (n.*1862T>C)
c.*1523T>C (n.*1523T>C)
c.1807T>C (p.Ser603Pro)
c.*129T>C (n.*129T>C)
c.571T>C (p.Ser191Pro)
c.1912T>C (p.Ser638Pro)
1g.53213494T>GCA859303CPT2c.1876T>G (p.Ser626Ala)
c.1843T>G (p.Ser615Ala)
c.*1862T>G (n.*1862T>G)
c.*1523T>G (n.*1523T>G)
c.1807T>G (p.Ser603Ala)
c.*129T>G (n.*129T>G)
c.571T>G (p.Ser191Ala)
c.1912T>G (p.Ser638Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.53213494T=CA1167216383CPT2c.1876T= (p.Ser626=)
c.1843T= (p.Ser615=)
c.*1862T= (n.*1862T=)
c.*1523T= (n.*1523T=)
c.1807T= (p.Ser603=)
c.*129T= (n.*129T=)
c.571T= (p.Ser191=)
c.1912T= (p.Ser638=)
1g.53213495C>ACA340397843CPT2c.1877C>A (p.Ser626Tyr)
c.1844C>A (p.Ser615Tyr)
c.*1863C>A (n.*1863C>A)
c.*1524C>A (n.*1524C>A)
c.1808C>A (p.Ser603Tyr)
c.*130C>A (n.*130C>A)
c.572C>A (p.Ser191Tyr)
c.1913C>A (p.Ser638Tyr)
1g.53213495C>GCA340397842CPT2c.1877C>G (p.Ser626Cys)
c.1844C>G (p.Ser615Cys)
c.*1863C>G (n.*1863C>G)
c.*1524C>G (n.*1524C>G)
c.1808C>G (p.Ser603Cys)
c.*130C>G (n.*130C>G)
c.572C>G (p.Ser191Cys)
c.1913C>G (p.Ser638Cys)
1g.53213495C>TCA340397844CPT2c.1877C>T (p.Ser626Phe)
c.1844C>T (p.Ser615Phe)
c.*1863C>T (n.*1863C>T)
c.*1524C>T (n.*1524C>T)
c.1808C>T (p.Ser603Phe)
c.*130C>T (n.*130C>T)
c.572C>T (p.Ser191Phe)
c.1913C>T (p.Ser638Phe)
1g.53213496T>ACA417875381CPT2c.1878T>A (p.Ser626=)
c.1845T>A (p.Ser615=)
c.*1864T>A (n.*1864T>A)
c.*1525T>A (n.*1525T>A)
c.1809T>A (p.Ser603=)
c.*131T>A (n.*131T>A)
c.573T>A (p.Ser191=)
c.1914T>A (p.Ser638=)
 ClinVar dbSNP gnomAD v4
1g.53213496T>CCA859304CPT2c.1878T>C (p.Ser626=)
c.1845T>C (p.Ser615=)
c.*1864T>C (n.*1864T>C)
c.*1525T>C (n.*1525T>C)
c.1809T>C (p.Ser603=)
c.*131T>C (n.*131T>C)
c.573T>C (p.Ser191=)
c.1914T>C (p.Ser638=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.53213496T>GCA417875382CPT2c.1878T>G (p.Ser626=)
c.1845T>G (p.Ser615=)
c.*1864T>G (n.*1864T>G)
c.*1525T>G (n.*1525T>G)
c.1809T>G (p.Ser603=)
c.*131T>G (n.*131T>G)
c.573T>G (p.Ser191=)
c.1914T>G (p.Ser638=)
 ClinVar
1g.53213496T=CA1167216384CPT2c.1878T= (p.Ser626=)
c.1845T= (p.Ser615=)
c.*1864T= (n.*1864T=)
c.*1525T= (n.*1525T=)
c.1809T= (p.Ser603=)
c.*131T= (n.*131T=)
c.573T= (p.Ser191=)
c.1914T= (p.Ser638=)
1g.53213497T>ACA340397845CPT2c.1879T>A (p.Ser627Thr)
c.1846T>A (p.Ser616Thr)
c.*1865T>A (n.*1865T>A)
c.*1526T>A (n.*1526T>A)
c.1810T>A (p.Ser604Thr)
c.*132T>A (n.*132T>A)
c.574T>A (p.Ser192Thr)
c.1915T>A (p.Ser639Thr)
1g.53213497T>CCA340397846CPT2c.1879T>C (p.Ser627Pro)
c.1846T>C (p.Ser616Pro)
c.*1865T>C (n.*1865T>C)
c.*1526T>C (n.*1526T>C)
c.1810T>C (p.Ser604Pro)
c.*132T>C (n.*132T>C)
c.574T>C (p.Ser192Pro)
c.1915T>C (p.Ser639Pro)
1g.53213497T>GCA340397847CPT2c.1879T>G (p.Ser627Ala)
c.1846T>G (p.Ser616Ala)
c.*1865T>G (n.*1865T>G)
c.*1526T>G (n.*1526T>G)
c.1810T>G (p.Ser604Ala)
c.*132T>G (n.*132T>G)
c.574T>G (p.Ser192Ala)
c.1915T>G (p.Ser639Ala)
1g.53213498C>ACA340397848CPT2c.1880C>A (p.Ser627Tyr)
c.1847C>A (p.Ser616Tyr)
c.*1866C>A (n.*1866C>A)
c.*1527C>A (n.*1527C>A)
c.1811C>A (p.Ser604Tyr)
c.*133C>A (n.*133C>A)
c.575C>A (p.Ser192Tyr)
c.1916C>A (p.Ser639Tyr)
1g.53213498C>GCA340397849CPT2c.1880C>G (p.Ser627Cys)
c.1847C>G (p.Ser616Cys)
c.*1866C>G (n.*1866C>G)
c.*1527C>G (n.*1527C>G)
c.1811C>G (p.Ser604Cys)
c.*133C>G (n.*133C>G)
c.575C>G (p.Ser192Cys)
c.1916C>G (p.Ser639Cys)
1g.53213498C>TCA340397850CPT2c.1880C>T (p.Ser627Phe)
c.1847C>T (p.Ser616Phe)
c.*1866C>T (n.*1866C>T)
c.*1527C>T (n.*1527C>T)
c.1811C>T (p.Ser604Phe)
c.*133C>T (n.*133C>T)
c.575C>T (p.Ser192Phe)
c.1916C>T (p.Ser639Phe)
1g.53213499C>ACA417875383CPT2c.1881C>A (p.Ser627=)
c.1848C>A (p.Ser616=)
c.*1867C>A (n.*1867C>A)
c.*1528C>A (n.*1528C>A)
c.1812C>A (p.Ser604=)
c.*134C>A (n.*134C>A)
c.576C>A (p.Ser192=)
c.1917C>A (p.Ser639=)
1g.53213499C>GCA417875384CPT2c.1881C>G (p.Ser627=)
c.1848C>G (p.Ser616=)
c.*1867C>G (n.*1867C>G)
c.*1528C>G (n.*1528C>G)
c.1812C>G (p.Ser604=)
c.*134C>G (n.*134C>G)
c.576C>G (p.Ser192=)
c.1917C>G (p.Ser639=)
1g.53213499C>TCA417875385CPT2c.1881C>T (p.Ser627=)
c.1848C>T (p.Ser616=)
c.*1867C>T (n.*1867C>T)
c.*1528C>T (n.*1528C>T)
c.1812C>T (p.Ser604=)
c.*134C>T (n.*134C>T)
c.576C>T (p.Ser192=)
c.1917C>T (p.Ser639=)
1g.53213500T>ACA340397851CPT2c.1882T>A (p.Tyr628Asn)
c.1849T>A (p.Tyr617Asn)
c.*1868T>A (n.*1868T>A)
c.*1529T>A (n.*1529T>A)
c.1813T>A (p.Tyr605Asn)
c.*135T>A (n.*135T>A)
c.577T>A (p.Tyr193Asn)
c.1918T>A (p.Tyr640Asn)
1g.53213500T>CCA340397852CPT2c.1882T>C (p.Tyr628His)
c.1849T>C (p.Tyr617His)
c.*1868T>C (n.*1868T>C)
c.*1529T>C (n.*1529T>C)
c.1813T>C (p.Tyr605His)
c.*135T>C (n.*135T>C)
c.577T>C (p.Tyr193His)
c.1918T>C (p.Tyr640His)
1g.53213500T>GCA340397853CPT2c.1882T>G (p.Tyr628Asp)
c.1849T>G (p.Tyr617Asp)
c.*1868T>G (n.*1868T>G)
c.*1529T>G (n.*1529T>G)
c.1813T>G (p.Tyr605Asp)
c.*135T>G (n.*135T>G)
c.577T>G (p.Tyr193Asp)
c.1918T>G (p.Tyr640Asp)
1g.53213501A=CA1140495626CPT2c.1883A= (p.Tyr628=)
c.1850A= (p.Tyr617=)
c.*1869A= (n.*1869A=)
c.*1530A= (n.*1530A=)
c.1814A= (p.Tyr605=)
c.*136A= (n.*136A=)
c.578A= (p.Tyr193=)
c.1919A= (p.Tyr640=)
1g.53213501A>CCA254608CPT2c.1883A>C (p.Tyr628Ser)
c.1850A>C (p.Tyr617Ser)
c.*1869A>C (n.*1869A>C)
c.*1530A>C (n.*1530A>C)
c.1814A>C (p.Tyr605Ser)
c.*136A>C (n.*136A>C)
c.578A>C (p.Tyr193Ser)
c.1919A>C (p.Tyr640Ser)
 ClinVar dbSNP
1g.53213501A>GCA340397854CPT2c.1883A>G (p.Tyr628Cys)
c.1850A>G (p.Tyr617Cys)
c.*1869A>G (n.*1869A>G)
c.*1530A>G (n.*1530A>G)
c.1814A>G (p.Tyr605Cys)
c.*136A>G (n.*136A>G)
c.578A>G (p.Tyr193Cys)
c.1919A>G (p.Tyr640Cys)
 gnomAD v4
1g.53213501A>TCA340397855CPT2c.1883A>T (p.Tyr628Phe)
c.1850A>T (p.Tyr617Phe)
c.*1869A>T (n.*1869A>T)
c.*1530A>T (n.*1530A>T)
c.1814A>T (p.Tyr605Phe)
c.*136A>T (n.*136A>T)
c.578A>T (p.Tyr193Phe)
c.1919A>T (p.Tyr640Phe)
1g.53213501_53213502delinsACCA1167216385CPT2c.1883_1884delinsAC (p.Tyr628=)
c.1850_1851delinsAC (p.Tyr617=)
c.*1869_*1870delinsAC (n.*1869_*1870delinsAC)
c.*1530_*1531delinsAC (n.*1530_*1531delinsAC)
c.1814_1815delinsAC (p.Tyr605=)
c.*136_*137delinsAC (n.*136_*137delinsAC)
c.578_579delinsAC (p.Tyr193=)
c.1919_1920delinsAC (p.Tyr640=)
1g.53213502C>ACA340397857CPT2c.1884C>A (p.Tyr628Ter)
c.1851C>A (p.Tyr617Ter)
c.*1870C>A (n.*1870C>A)
c.*1531C>A (n.*1531C>A)
c.1815C>A (p.Tyr605Ter)
c.*137C>A (n.*137C>A)
c.579C>A (p.Tyr193Ter)
c.1920C>A (p.Tyr640Ter)
1g.53213502C=CA1167216386CPT2c.1884C= (p.Tyr628=)
c.1851C= (p.Tyr617=)
c.*1870C= (n.*1870C=)
c.*1531C= (n.*1531C=)
c.1815C= (p.Tyr605=)
c.*137C= (n.*137C=)
c.579C= (p.Tyr193=)
c.1920C= (p.Tyr640=)
1g.53213502C>GCA340397856CPT2c.1884C>G (p.Tyr628Ter)
c.1851C>G (p.Tyr617Ter)
c.*1870C>G (n.*1870C>G)
c.*1531C>G (n.*1531C>G)
c.1815C>G (p.Tyr605Ter)
c.*137C>G (n.*137C>G)
c.579C>G (p.Tyr193Ter)
c.1920C>G (p.Tyr640Ter)
1g.53213502C>TCA22642165CPT2c.1884C>T (p.Tyr628=)
c.1851C>T (p.Tyr617=)
c.*1870C>T (n.*1870C>T)
c.*1531C>T (n.*1531C>T)
c.1815C>T (p.Tyr605=)
c.*137C>T (n.*137C>T)
c.579C>T (p.Tyr193=)
c.1920C>T (p.Tyr640=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.53213504delCA859305CPT2c.1886del (p.Pro629GlnfsTer16)
c.1853del (p.Pro618GlnfsTer16)
c.*1872del (n.*1872del)
c.*1533del (n.*1533del)
c.1817del (p.Pro606GlnfsTer16)
c.*139del (n.*139del)
c.581del (p.Pro194GlnfsTer16)
c.1922del (p.Pro641GlnfsTer16)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.53213503C>ACA340397858CPT2c.1885C>A (p.Pro629Thr)
c.1852C>A (p.Pro618Thr)
c.*1871C>A (n.*1871C>A)
c.*1532C>A (n.*1532C>A)
c.1816C>A (p.Pro606Thr)
c.*138C>A (n.*138C>A)
c.580C>A (p.Pro194Thr)
c.1921C>A (p.Pro641Thr)
1g.53213503C=CA1167216387CPT2c.1885C= (p.Pro629=)
c.1852C= (p.Pro618=)
c.*1871C= (n.*1871C=)
c.*1532C= (n.*1532C=)
c.1816C= (p.Pro606=)
c.*138C= (n.*138C=)
c.580C= (p.Pro194=)
c.1921C= (p.Pro641=)
1g.53213503C>GCA22642177CPT2c.1885C>G (p.Pro629Ala)
c.1852C>G (p.Pro618Ala)
c.*1871C>G (n.*1871C>G)
c.*1532C>G (n.*1532C>G)
c.1816C>G (p.Pro606Ala)
c.*138C>G (n.*138C>G)
c.580C>G (p.Pro194Ala)
c.1921C>G (p.Pro641Ala)
 dbSNP gnomAD v4
1g.53213503C>TCA340397859CPT2c.1885C>T (p.Pro629Ser)
c.1852C>T (p.Pro618Ser)
c.*1871C>T (n.*1871C>T)
c.*1532C>T (n.*1532C>T)
c.1816C>T (p.Pro606Ser)
c.*138C>T (n.*138C>T)
c.580C>T (p.Pro194Ser)
c.1921C>T (p.Pro641Ser)
 COSMIC
1g.53213504C>ACA340397860CPT2c.1886C>A (p.Pro629Gln)
c.1853C>A (p.Pro618Gln)
c.*1872C>A (n.*1872C>A)
c.*1533C>A (n.*1533C>A)
c.1817C>A (p.Pro606Gln)
c.*139C>A (n.*139C>A)
c.581C>A (p.Pro194Gln)
c.1922C>A (p.Pro641Gln)
 ClinVar dbSNP
1g.53213504C=CA1167216388CPT2c.1886C= (p.Pro629=)
c.1853C= (p.Pro618=)
c.*1872C= (n.*1872C=)
c.*1533C= (n.*1533C=)
c.1817C= (p.Pro606=)
c.*139C= (n.*139C=)
c.581C= (p.Pro194=)
c.1922C= (p.Pro641=)
1g.53213504C>GCA340397861CPT2c.1886C>G (p.Pro629Arg)
c.1853C>G (p.Pro618Arg)
c.*1872C>G (n.*1872C>G)
c.*1533C>G (n.*1533C>G)
c.1817C>G (p.Pro606Arg)
c.*139C>G (n.*139C>G)
c.581C>G (p.Pro194Arg)
c.1922C>G (p.Pro641Arg)
1g.53213504C>TCA859306CPT2c.1886C>T (p.Pro629Leu)
c.1853C>T (p.Pro618Leu)
c.*1872C>T (n.*1872C>T)
c.*1533C>T (n.*1533C>T)
c.1817C>T (p.Pro606Leu)
c.*139C>T (n.*139C>T)
c.581C>T (p.Pro194Leu)
c.1922C>T (p.Pro641Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.53213505A=CA1167216389CPT2c.1887A= (p.Pro629=)
c.1854A= (p.Pro618=)
c.*1873A= (n.*1873A=)
c.*1534A= (n.*1534A=)
c.1818A= (p.Pro606=)
c.*140A= (n.*140A=)
c.582A= (p.Pro194=)
c.1923A= (p.Pro641=)
1g.53213505A>CCA417875386CPT2c.1887A>C (p.Pro629=)
c.1854A>C (p.Pro618=)
c.*1873A>C (n.*1873A>C)
c.*1534A>C (n.*1534A>C)
c.1818A>C (p.Pro606=)
c.*140A>C (n.*140A>C)
c.582A>C (p.Pro194=)
c.1923A>C (p.Pro641=)
1g.53213505A>GCA859308CPT2c.1887A>G (p.Pro629=)
c.1854A>G (p.Pro618=)
c.*1873A>G (n.*1873A>G)
c.*1534A>G (n.*1534A>G)
c.1818A>G (p.Pro606=)
c.*140A>G (n.*140A>G)
c.582A>G (p.Pro194=)
c.1923A>G (p.Pro641=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.53213505A>TCA859307CPT2c.1887A>T (p.Pro629=)
c.1854A>T (p.Pro618=)
c.*1873A>T (n.*1873A>T)
c.*1534A>T (n.*1534A>T)
c.1818A>T (p.Pro606=)
c.*140A>T (n.*140A>T)
c.582A>T (p.Pro194=)
c.1923A>T (p.Pro641=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.53213506G>ACA340397862CPT2c.1888G>A (p.Gly630Ser)
c.1855G>A (p.Gly619Ser)
c.*1874G>A (n.*1874G>A)
c.*1535G>A (n.*1535G>A)
c.1819G>A (p.Gly607Ser)
c.*141G>A (n.*141G>A)
c.583G>A (p.Gly195Ser)
c.1924G>A (p.Gly642Ser)
1g.53213506G>CCA340397863CPT2c.1888G>C (p.Gly630Arg)
c.1855G>C (p.Gly619Arg)
c.*1874G>C (n.*1874G>C)
c.*1535G>C (n.*1535G>C)
c.1819G>C (p.Gly607Arg)
c.*141G>C (n.*141G>C)
c.583G>C (p.Gly195Arg)
c.1924G>C (p.Gly642Arg)
1g.53213506G=CA1141285748CPT2c.1888G= (p.Gly630=)
c.1855G= (p.Gly619=)
c.*1874G= (n.*1874G=)
c.*1535G= (n.*1535G=)
c.1819G= (p.Gly607=)
c.*141G= (n.*141G=)
c.583G= (p.Gly195=)
c.1924G= (p.Gly642=)
1g.53213506G>TCA22642194CPT2c.1888G>T (p.Gly630Cys)
c.1855G>T (p.Gly619Cys)
c.*1874G>T (n.*1874G>T)
c.*1535G>T (n.*1535G>T)
c.1819G>T (p.Gly607Cys)
c.*141G>T (n.*141G>T)
c.583G>T (p.Gly195Cys)
c.1924G>T (p.Gly642Cys)
 dbSNP
1g.53213507G>ACA340397866CPT2c.1889G>A (p.Gly630Asp)
c.1856G>A (p.Gly619Asp)
c.*1875G>A (n.*1875G>A)
c.*1536G>A (n.*1536G>A)
c.1820G>A (p.Gly607Asp)
c.*142G>A (n.*142G>A)
c.584G>A (p.Gly195Asp)
c.1925G>A (p.Gly642Asp)
1g.53213507G>CCA340397865CPT2c.1889G>C (p.Gly630Ala)
c.1856G>C (p.Gly619Ala)
c.*1875G>C (n.*1875G>C)
c.*1536G>C (n.*1536G>C)
c.1820G>C (p.Gly607Ala)
c.*142G>C (n.*142G>C)
c.584G>C (p.Gly195Ala)
c.1925G>C (p.Gly642Ala)
1g.53213507G>TCA340397864CPT2c.1889G>T (p.Gly630Val)
c.1856G>T (p.Gly619Val)
c.*1875G>T (n.*1875G>T)
c.*1536G>T (n.*1536G>T)
c.1820G>T (p.Gly607Val)
c.*142G>T (n.*142G>T)
c.584G>T (p.Gly195Val)
c.1925G>T (p.Gly642Val)
1g.53213508C>ACA417875387CPT2c.1890C>A (p.Gly630=)
c.1857C>A (p.Gly619=)
c.*1876C>A (n.*1876C>A)
c.*1537C>A (n.*1537C>A)
c.1821C>A (p.Gly607=)
c.*143C>A (n.*143C>A)
c.585C>A (p.Gly195=)
c.1926C>A (p.Gly642=)
1g.53213508C=CA1167216390CPT2c.1890C= (p.Gly630=)
c.1857C= (p.Gly619=)
c.*1876C= (n.*1876C=)
c.*1537C= (n.*1537C=)
c.1821C= (p.Gly607=)
c.*143C= (n.*143C=)
c.585C= (p.Gly195=)
c.1926C= (p.Gly642=)
1g.53213508C>GCA417875388CPT2c.1890C>G (p.Gly630=)
c.1857C>G (p.Gly619=)
c.*1876C>G (n.*1876C>G)
c.*1537C>G (n.*1537C>G)
c.1821C>G (p.Gly607=)
c.*143C>G (n.*143C>G)
c.585C>G (p.Gly195=)
c.1926C>G (p.Gly642=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.53213508C>TCA417875389CPT2c.1890C>T (p.Gly630=)
c.1857C>T (p.Gly619=)
c.*1876C>T (n.*1876C>T)
c.*1537C>T (n.*1537C>T)
c.1821C>T (p.Gly607=)
c.*143C>T (n.*143C>T)
c.585C>T (p.Gly195=)
c.1926C>T (p.Gly642=)

Number of alleles fetched