Chr Mutation (hg38) CAid Gene Transcript Linkouts
8g.127738290A>CCA462962111MYCc.28A>C (p.Arg10=)
c.70A>C (p.Arg24=)
c.73A>C (p.Arg25=)
c.-273A>C (n.-273A>C)
c.-5-2A>C (n.-5-2A>C)
8g.127738290A>GCA372279238MYCc.28A>G (p.Arg10Gly)
c.70A>G (p.Arg24Gly)
c.73A>G (p.Arg25Gly)
c.-273A>G (n.-273A>G)
c.-5-2A>G (n.-5-2A>G)
dbSNP gnomAD v4
8g.127738290A>TCA372279239MYCc.28A>T (p.Arg10Trp)
c.70A>T (p.Arg24Trp)
c.73A>T (p.Arg25Trp)
c.-273A>T (n.-273A>T)
c.-5-2A>T (n.-5-2A>T)
8g.127738291G>ACA372279240MYCc.29G>A (p.Arg10Lys)
c.71G>A (p.Arg24Lys)
c.74G>A (p.Arg25Lys)
c.-272G>A (n.-272G>A)
c.-5-1G>A (n.-5-1G>A)
COSMIC COSMIC
8g.127738291G>CCA372279242MYCc.29G>C (p.Arg10Thr)
c.71G>C (p.Arg24Thr)
c.74G>C (p.Arg25Thr)
c.-272G>C (n.-272G>C)
c.-5-1G>C (n.-5-1G>C)
dbSNP
8g.127738291G>TCA372279241MYCc.29G>T (p.Arg10Met)
c.71G>T (p.Arg24Met)
c.74G>T (p.Arg25Met)
c.-272G>T (n.-272G>T)
c.-5-1G>T (n.-5-1G>T)
8g.127738292G>ACA462962118MYCc.30G>A (p.Arg10=)
c.72G>A (p.Arg24=)
c.75G>A (p.Arg25=)
c.-271G>A (n.-271G>A)
c.-5G>A (n.-5G>A)
dbSNP gnomAD v4
8g.127738292G>CCA372279243MYCc.30G>C (p.Arg10Ser)
c.72G>C (p.Arg24Ser)
c.75G>C (p.Arg25Ser)
c.-271G>C (n.-271G>C)
c.-5G>C (n.-5G>C)
dbSNP
8g.127738292G=CA1818466171MYCc.30G= (p.Arg10=)
c.72G= (p.Arg24=)
c.75G= (p.Arg25=)
c.-271G= (n.-271G=)
c.-5G= (n.-5G=)
8g.127738292G>TCA372279244MYCc.30G>T (p.Arg10Ser)
c.72G>T (p.Arg24Ser)
c.75G>T (p.Arg25Ser)
c.-271G>T (n.-271G>T)
c.-5G>T (n.-5G>T)
8g.127738293A>CCA372279245MYCc.31A>C (p.Asn11His)
c.73A>C (p.Asn25His)
c.76A>C (p.Asn26His)
c.-270A>C (n.-270A>C)
c.-4A>C (n.-4A>C)
8g.127738293A>GCA372279246MYCc.31A>G (p.Asn11Asp)
c.73A>G (p.Asn25Asp)
c.76A>G (p.Asn26Asp)
c.-270A>G (n.-270A>G)
c.-4A>G (n.-4A>G)
8g.127738293A>TCA372279247MYCc.31A>T (p.Asn11Tyr)
c.73A>T (p.Asn25Tyr)
c.76A>T (p.Asn26Tyr)
c.-270A>T (n.-270A>T)
c.-4A>T (n.-4A>T)
8g.127738294A=CA1818466176MYCc.32A= (p.Asn11=)
c.74A= (p.Asn25=)
c.77A= (p.Asn26=)
c.-269A= (n.-269A=)
c.-3A= (n.-3A=)
8g.127738294A>CCA4875221MYCc.32A>C (p.Asn11Thr)
c.74A>C (p.Asn25Thr)
c.77A>C (p.Asn26Thr)
c.-269A>C (n.-269A>C)
c.-3A>C (n.-3A>C)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.127738294A>GCA4875220MYCc.32A>G (p.Asn11Ser)
c.74A>G (p.Asn25Ser)
c.77A>G (p.Asn26Ser)
c.-269A>G (n.-269A>G)
c.-3A>G (n.-3A>G)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.127738294A>TCA372279248MYCc.32A>T (p.Asn11Ile)
c.74A>T (p.Asn25Ile)
c.77A>T (p.Asn26Ile)
c.-269A>T (n.-269A>T)
c.-3A>T (n.-3A>T)
8g.127738295C>ACA372279249MYCc.33C>A (p.Asn11Lys)
c.75C>A (p.Asn25Lys)
c.78C>A (p.Asn26Lys)
c.-268C>A (n.-268C>A)
c.-2C>A (n.-2C>A)
8g.127738295C=CA1818466183MYCc.33C= (p.Asn11=)
c.75C= (p.Asn25=)
c.78C= (p.Asn26=)
c.-268C= (n.-268C=)
c.-2C= (n.-2C=)
8g.127738295C>GCA372279250MYCc.33C>G (p.Asn11Lys)
c.75C>G (p.Asn25Lys)
c.78C>G (p.Asn26Lys)
c.-268C>G (n.-268C>G)
c.-2C>G (n.-2C>G)
8g.127738295C>TCA462962128MYCc.33C>T (p.Asn11=)
c.75C>T (p.Asn25=)
c.78C>T (p.Asn26=)
c.-268C>T (n.-268C>T)
c.-2C>T (n.-2C>T)
dbSNP
8g.127738296T>ACA372279253MYCc.34T>A (p.Tyr12Asn)
c.76T>A (p.Tyr26Asn)
c.79T>A (p.Tyr27Asn)
c.-267T>A (n.-267T>A)
c.-1T>A (n.-1T>A)
dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
8g.127738296T>CCA372279252MYCc.34T>C (p.Tyr12His)
c.76T>C (p.Tyr26His)
c.79T>C (p.Tyr27His)
c.-267T>C (n.-267T>C)
c.-1T>C (n.-1T>C)
8g.127738296T>GCA372279251MYCc.34T>G (p.Tyr12Asp)
c.76T>G (p.Tyr26Asp)
c.79T>G (p.Tyr27Asp)
c.-267T>G (n.-267T>G)
c.-1T>G (n.-1T>G)
8g.127738296T=CA1818466186MYCc.34T= (p.Tyr12=)
c.76T= (p.Tyr26=)
c.79T= (p.Tyr27=)
c.-267T= (n.-267T=)
c.-1T= (n.-1T=)
8g.127738297A>CCA372279254MYCc.35A>C (p.Tyr12Ser)
c.77A>C (p.Tyr26Ser)
c.80A>C (p.Tyr27Ser)
c.-266A>C (n.-266A>C)
c.1A>C (p.Met1Leu)
COSMIC COSMIC
8g.127738297A>GCA372279255MYCc.35A>G (p.Tyr12Cys)
c.77A>G (p.Tyr26Cys)
c.80A>G (p.Tyr27Cys)
c.-266A>G (n.-266A>G)
c.1A>G (p.Met1Val)
gnomAD v4 COSMIC COSMIC
8g.127738297A>TCA372279256MYCc.35A>T (p.Tyr12Phe)
c.77A>T (p.Tyr26Phe)
c.80A>T (p.Tyr27Phe)
c.-266A>T (n.-266A>T)
c.1A>T (p.Met1Leu)
8g.127738298T>ACA372279257MYCc.36T>A (p.Tyr12Ter)
c.78T>A (p.Tyr26Ter)
c.81T>A (p.Tyr27Ter)
c.-265T>A (n.-265T>A)
c.2T>A (p.Met1Lys)
8g.127738298T>CCA372279258MYCc.36T>C (p.Tyr12=)
c.78T>C (p.Tyr26=)
c.81T>C (p.Tyr27=)
c.-265T>C (n.-265T>C)
c.2T>C (p.Met1Thr)
gnomAD v4
8g.127738298T>GCA372279259MYCc.36T>G (p.Tyr12Ter)
c.78T>G (p.Tyr26Ter)
c.81T>G (p.Tyr27Ter)
c.-265T>G (n.-265T>G)
c.2T>G (p.Met1Arg)
8g.127738299G>ACA372279262MYCc.37G>A (p.Asp13Asn)
c.79G>A (p.Asp27Asn)
c.82G>A (p.Asp28Asn)
c.-264G>A (n.-264G>A)
c.3G>A (p.Met1Ile)
8g.127738299G>CCA372279261MYCc.37G>C (p.Asp13His)
c.79G>C (p.Asp27His)
c.82G>C (p.Asp28His)
c.-264G>C (n.-264G>C)
c.3G>C (p.Met1Ile)
dbSNP
8g.127738299G>TCA372279260MYCc.37G>T (p.Asp13Tyr)
c.79G>T (p.Asp27Tyr)
c.82G>T (p.Asp28Tyr)
c.-264G>T (n.-264G>T)
c.3G>T (p.Met1Ile)
8g.127738300A=CA1818466188MYCc.38A= (p.Asp13=)
c.80A= (p.Asp27=)
c.83A= (p.Asp28=)
c.-263A= (n.-263A=)
c.4A= (p.Thr2=)
8g.127738300A>CCA372279263MYCc.38A>C (p.Asp13Ala)
c.80A>C (p.Asp27Ala)
c.83A>C (p.Asp28Ala)
c.-263A>C (n.-263A>C)
c.4A>C (p.Thr2Pro)
dbSNP
8g.127738300A>GCA372279264MYCc.38A>G (p.Asp13Gly)
c.80A>G (p.Asp27Gly)
c.83A>G (p.Asp28Gly)
c.-263A>G (n.-263A>G)
c.4A>G (p.Thr2Ala)
8g.127738300A>TCA372279265MYCc.38A>T (p.Asp13Val)
c.80A>T (p.Asp27Val)
c.83A>T (p.Asp28Val)
c.-263A>T (n.-263A>T)
c.4A>T (p.Thr2Ser)
dbSNP gnomAD v2 gnomAD v4
8g.127738301C>ACA372279266MYCc.39C>A (p.Asp13Glu)
c.81C>A (p.Asp27Glu)
c.84C>A (p.Asp28Glu)
c.-262C>A (n.-262C>A)
c.5C>A (p.Thr2Asn)
8g.127738301C>GCA372279267MYCc.39C>G (p.Asp13Glu)
c.81C>G (p.Asp27Glu)
c.84C>G (p.Asp28Glu)
c.-262C>G (n.-262C>G)
c.5C>G (p.Thr2Ser)
8g.127738301C>TCA372279268MYCc.39C>T (p.Asp13=)
c.81C>T (p.Asp27=)
c.84C>T (p.Asp28=)
c.-262C>T (n.-262C>T)
c.5C>T (p.Thr2Ile)
8g.127738302C>ACA372279269MYCc.40C>A (p.Leu14Ile)
c.82C>A (p.Leu28Ile)
c.85C>A (p.Leu29Ile)
c.-261C>A (n.-261C>A)
c.6C>A (p.Thr2=)
dbSNP
8g.127738302C=CA1818466192MYCc.40C= (p.Leu14=)
c.82C= (p.Leu28=)
c.85C= (p.Leu29=)
c.-261C= (n.-261C=)
c.6C= (p.Thr2=)
8g.127738302C>GCA4875222MYCc.40C>G (p.Leu14Val)
c.82C>G (p.Leu28Val)
c.85C>G (p.Leu29Val)
c.-261C>G (n.-261C>G)
c.6C>G (p.Thr2=)
dbSNP ExAC gnomAD v2 COSMIC COSMIC
8g.127738302C>TCA372279270MYCc.40C>T (p.Leu14Phe)
c.82C>T (p.Leu28Phe)
c.85C>T (p.Leu29Phe)
c.-261C>T (n.-261C>T)
c.6C>T (p.Thr2=)
8g.127738302_127738303insCAACAGCAGCAGTGTTAAAAAAAAAAAAAAATGTTAATGTCTGTCTCACATGCA2740982257MYCc.40_41insCAACAGCAGCAGTGTTAAAAAAAAAAAAAAATGTTAATGTCTGTCTCACATG (p.Leu14ProfsTer?)
c.82_83insCAACAGCAGCAGTGTTAAAAAAAAAAAAAAATGTTAATGTCTGTCTCACATG (p.Leu28ProfsTer?)
c.85_86insCAACAGCAGCAGTGTTAAAAAAAAAAAAAAATGTTAATGTCTGTCTCACATG (p.Leu29ProfsTer?)
c.-261_-260insCAACAGCAGCAGTGTTAAAAAAAAAAAAAAATGTTAATGTCTGTCTCACATG (n.-261_-260insCAACAGCAGCAGTGTTAAAAAAAAAAAAAAATGTTAATGTCTGTCTCACATG)
c.6_7insCAACAGCAGCAGTGTTAAAAAAAAAAAAAAATGTTAATGTCTGTCTCACATG (p.Ser3GlnfsTer6)
8g.127738303T>ACA372279271MYCc.41T>A (p.Leu14His)
c.83T>A (p.Leu28His)
c.86T>A (p.Leu29His)
c.-260T>A (n.-260T>A)
c.7T>A (p.Ser3Thr)
8g.127738303T>CCA372279272MYCc.41T>C (p.Leu14Pro)
c.83T>C (p.Leu28Pro)
c.86T>C (p.Leu29Pro)
c.-260T>C (n.-260T>C)
c.7T>C (p.Ser3Pro)
8g.127738303T>GCA372279273MYCc.41T>G (p.Leu14Arg)
c.83T>G (p.Leu28Arg)
c.86T>G (p.Leu29Arg)
c.-260T>G (n.-260T>G)
c.7T>G (p.Ser3Ala)
8g.127738304C>ACA372279274MYCc.42C>A (p.Leu14=)
c.84C>A (p.Leu28=)
c.87C>A (p.Leu29=)
c.-259C>A (n.-259C>A)
c.8C>A (p.Ser3Ter)

Number of alleles fetched