Chr Mutation (hg38) CAid Gene Transcript Linkouts
8g.96145073G>ACA462454974GDF6c.858C>T (p.Arg286=)
c.793+3C>T (n.793+3C>T)
c.459C>T (p.Arg153=)
 gnomAD v4
8g.96145073G>CCA462454975GDF6c.858C>G (p.Arg286=)
c.793+3C>G (n.793+3C>G)
c.459C>G (p.Arg153=)
8g.96145073G>TCA462454976GDF6c.858C>A (p.Arg286=)
c.793+3C>A (n.793+3C>A)
c.459C>A (p.Arg153=)
 gnomAD v4
8g.96145074C>ACA371751655GDF6c.857G>T (p.Arg286Leu)
c.793+2G>T (n.793+2G>T)
c.458G>T (p.Arg153Leu)
 gnomAD v4
8g.96145074C=CA1804261692GDF6c.857G= (p.Arg286=)
c.793+2G= (n.793+2G=)
c.458G= (p.Arg153=)
8g.96145074C>GCA4815398GDF6c.857G>C (p.Arg286Pro)
c.793+2G>C (n.793+2G>C)
c.458G>C (p.Arg153Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.96145074C>TCA4815399GDF6c.857G>A (p.Arg286His)
c.793+2G>A (n.793+2G>A)
c.458G>A (p.Arg153His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
8g.96145075G>ACA371751656GDF6c.856C>T (p.Arg286Cys)
c.793+1C>T (n.793+1C>T)
c.457C>T (p.Arg153Cys)
 ClinVar dbSNP gnomAD v4 COSMIC
8g.96145075G>CCA371751657GDF6c.856C>G (p.Arg286Gly)
c.793+1C>G (n.793+1C>G)
c.457C>G (p.Arg153Gly)
 dbSNP gnomAD v2 gnomAD v4
8g.96145075G=CA1804261696GDF6c.856C= (p.Arg286=)
c.793+1C= (n.793+1C=)
c.457C= (p.Arg153=)
8g.96145075G>TCA371751658GDF6c.856C>A (p.Arg286Ser)
c.793+1C>A (n.793+1C>A)
c.457C>A (p.Arg153Ser)
 gnomAD v4
8g.96145076C>ACA371751659GDF6c.855G>T (p.Gln285His)
c.793G>T (p.Ala265Ser)
c.456G>T (p.Gln152His)
 gnomAD v4
8g.96145076C>GCA371751660GDF6c.855G>C (p.Gln285His)
c.793G>C (p.Ala265Pro)
c.456G>C (p.Gln152His)
 ClinVar
8g.96145076C>TCA371751661GDF6c.855G>A (p.Gln285=)
c.793G>A (p.Ala265Thr)
c.456G>A (p.Gln152=)
 gnomAD v4
8g.96145077T>ACA371751662GDF6c.854A>T (p.Gln285Leu)
c.792A>T (p.Pro264=)
c.455A>T (p.Gln152Leu)
 ClinVar dbSNP gnomAD v4
8g.96145077T>CCA4815400GDF6c.854A>G (p.Gln285Arg)
c.792A>G (p.Pro264=)
c.455A>G (p.Gln152Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.96145077T>GCA371751663GDF6c.854A>C (p.Gln285Pro)
c.792A>C (p.Pro264=)
c.455A>C (p.Gln152Pro)
8g.96145077T=CA1804261711GDF6c.854A= (p.Gln285=)
c.792A= (p.Pro264=)
c.455A= (p.Gln152=)
8g.96145078G>ACA371751664GDF6c.853C>T (p.Gln285Ter)
c.791C>T (p.Pro264Leu)
c.454C>T (p.Gln152Ter)
 gnomAD v4
8g.96145078G>CCA371751665GDF6c.853C>G (p.Gln285Glu)
c.791C>G (p.Pro264Arg)
c.454C>G (p.Gln152Glu)
8g.96145078G>TCA371751666GDF6c.853C>A (p.Gln285Lys)
c.791C>A (p.Pro264Gln)
c.454C>A (p.Gln152Lys)
 gnomAD v4
8g.96145080delCA2687993708GDF6c.853del (p.Gln285SerfsTer?)
c.791del (p.Pro264GlnfsTer21)
c.454del (p.Gln152SerfsTer?)
 gnomAD v4
8g.96145079G>ACA371751667GDF6c.852C>T (p.Ser284=)
c.790C>T (p.Pro264Ser)
c.453C>T (p.Ser151=)
 gnomAD v4
8g.96145079G>CCA4815401GDF6c.852C>G (p.Ser284=)
c.790C>G (p.Pro264Ala)
c.453C>G (p.Ser151=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.96145079G=CA1804261719GDF6c.852C= (p.Ser284=)
c.790C= (p.Pro264=)
c.453C= (p.Ser151=)
8g.96145079G>TCA371751668GDF6c.852C>A (p.Ser284=)
c.790C>A (p.Pro264Thr)
c.453C>A (p.Ser151=)
 gnomAD v4
8g.96145080G>ACA371751669GDF6c.851C>T (p.Ser284Phe)
c.789C>T (p.Ile263=)
c.452C>T (p.Ser151Phe)
 gnomAD v4
8g.96145080G>CCA371751670GDF6c.851C>G (p.Ser284Cys)
c.789C>G (p.Ile263Met)
c.452C>G (p.Ser151Cys)
 dbSNP gnomAD v3 gnomAD v4
8g.96145080G=CA1804261733GDF6c.851C= (p.Ser284=)
c.789C= (p.Ile263=)
c.452C= (p.Ser151=)
8g.96145080G>TCA371751671GDF6c.851C>A (p.Ser284Tyr)
c.789C>A (p.Ile263=)
c.452C>A (p.Ser151Tyr)
 gnomAD v4
8g.96145081A=CA1804261738GDF6c.850T= (p.Ser284=)
c.788T= (p.Ile263=)
c.451T= (p.Ser151=)
8g.96145081A>CCA371751672GDF6c.850T>G (p.Ser284Ala)
c.788T>G (p.Ile263Ser)
c.451T>G (p.Ser151Ala)
8g.96145081A>GCA371751673GDF6c.850T>C (p.Ser284Pro)
c.788T>C (p.Ile263Thr)
c.451T>C (p.Ser151Pro)
 dbSNP gnomAD v4
8g.96145081A>TCA371751674GDF6c.850T>A (p.Ser284Thr)
c.788T>A (p.Ile263Asn)
c.451T>A (p.Ser151Thr)
8g.96145082T>ACA371751677GDF6c.849A>T (p.Arg283Ser)
c.787A>T (p.Ile263Phe)
c.450A>T (p.Arg150Ser)
 gnomAD v4
8g.96145082T>CCA371751675GDF6c.849A>G (p.Arg283=)
c.787A>G (p.Ile263Val)
c.450A>G (p.Arg150=)
 gnomAD v4
8g.96145082T>GCA371751676GDF6c.849A>C (p.Arg283Ser)
c.787A>C (p.Ile263Leu)
c.450A>C (p.Arg150Ser)
8g.96145083C>ACA371751678GDF6c.848G>T (p.Arg283Ile)
c.786G>T (p.Gln262His)
c.449G>T (p.Arg150Ile)
 gnomAD v4
8g.96145083C=CA1804261743GDF6c.848G= (p.Arg283=)
c.786G= (p.Gln262=)
c.449G= (p.Arg150=)
8g.96145083C>GCA371751679GDF6c.848G>C (p.Arg283Thr)
c.786G>C (p.Gln262His)
c.449G>C (p.Arg150Thr)
 gnomAD v4
8g.96145083C>TCA371751680GDF6c.848G>A (p.Arg283Lys)
c.786G>A (p.Gln262=)
c.449G>A (p.Arg150Lys)
 dbSNP gnomAD v4
8g.96145084T>ACA371751681GDF6c.847A>T (p.Arg283Ter)
c.785A>T (p.Gln262Leu)
c.448A>T (p.Arg150Ter)
 gnomAD v4
8g.96145084T>CCA371751682GDF6c.847A>G (p.Arg283Gly)
c.785A>G (p.Gln262Arg)
c.448A>G (p.Arg150Gly)
 gnomAD v4
8g.96145084T>GCA371751683GDF6c.847A>C (p.Arg283=)
c.785A>C (p.Gln262Pro)
c.448A>C (p.Arg150=)
8g.96145085G>ACA371751684GDF6c.846C>T (p.Thr282=)
c.784C>T (p.Gln262Ter)
c.447C>T (p.Thr149=)
 gnomAD v4
8g.96145085G>CCA371751685GDF6c.846C>G (p.Thr282=)
c.784C>G (p.Gln262Glu)
c.447C>G (p.Thr149=)
8g.96145085G>TCA371751686GDF6c.846C>A (p.Thr282=)
c.784C>A (p.Gln262Lys)
c.447C>A (p.Thr149=)
 gnomAD v4
8g.96145086delCA2687993714GDF6c.846del (p.Arg283AspfsTer?)
c.784del (p.Gln262ArgfsTer23)
c.447del (p.Arg150AspfsTer?)
 gnomAD v4
8g.96145086G>ACA371751687GDF6c.845C>T (p.Thr282Ile)
c.783C>T (p.His261=)
c.446C>T (p.Thr149Ile)
 gnomAD v4
8g.96145086G>CCA371751688GDF6c.845C>G (p.Thr282Ser)
c.783C>G (p.His261Gln)
c.446C>G (p.Thr149Ser)
 ClinVar dbSNP gnomAD v3 gnomAD v4

Number of alleles fetched