Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.107915485_107915489delinsGTTTTCA1732859293DLDc.685-21_685-17delinsGTTTT (n.685-21_685-17delinsGTTTT)
c.*359-21_*359-17delinsGTTTT (n.*359-21_*359-17delinsGTTTT)
c.541-21_541-17delinsGTTTT (n.541-21_541-17delinsGTTTT)
c.616-21_616-17delinsGTTTT (n.616-21_616-17delinsGTTTT)
c.*428-21_*428-17delinsGTTTT (n.*428-21_*428-17delinsGTTTT)
c.388-21_388-17delinsGTTTT (n.388-21_388-17delinsGTTTT)
7g.107915492dupCA4434542DLDc.685-14dup (n.685-14dup)
c.*359-14dup (n.*359-14dup)
c.541-14dup (n.541-14dup)
c.616-14dup (n.616-14dup)
c.*428-14dup (n.*428-14dup)
c.388-14dup (n.388-14dup)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.107915491_107915492dupCA1105644152DLDc.685-15_685-14dup (n.685-15_685-14dup)
c.*359-15_*359-14dup (n.*359-15_*359-14dup)
c.541-15_541-14dup (n.541-15_541-14dup)
c.616-15_616-14dup (n.616-15_616-14dup)
c.*428-15_*428-14dup (n.*428-15_*428-14dup)
c.388-15_388-14dup (n.388-15_388-14dup)
dbSNP gnomAD v3 gnomAD v4
7g.107915492delCA4434541DLDc.685-14del (n.685-14del)
c.*359-14del (n.*359-14del)
c.541-14del (n.541-14del)
c.616-14del (n.616-14del)
c.*428-14del (n.*428-14del)
c.388-14del (n.388-14del)
ClinVar dbSNP ExAC gnomAD v3 gnomAD v4
7g.107915490_107915492delCA577039183DLDc.685-16_685-14del (n.685-16_685-14del)
c.*359-16_*359-14del (n.*359-16_*359-14del)
c.541-16_541-14del (n.541-16_541-14del)
c.616-16_616-14del (n.616-16_616-14del)
c.*428-16_*428-14del (n.*428-16_*428-14del)
c.388-16_388-14del (n.388-16_388-14del)
dbSNP gnomAD v2 gnomAD v4
7g.107915489_107915492delCA577039182DLDc.685-17_685-14del (n.685-17_685-14del)
c.*359-17_*359-14del (n.*359-17_*359-14del)
c.541-17_541-14del (n.541-17_541-14del)
c.616-17_616-14del (n.616-17_616-14del)
c.*428-17_*428-14del (n.*428-17_*428-14del)
c.388-17_388-14del (n.388-17_388-14del)
ClinVar dbSNP gnomAD v2
7g.107915488T>CCA2684464705DLDc.685-18T>C (n.685-18T>C)
c.*359-18T>C (n.*359-18T>C)
c.541-18T>C (n.541-18T>C)
c.616-18T>C (n.616-18T>C)
c.*428-18T>C (n.*428-18T>C)
c.388-18T>C (n.388-18T>C)
gnomAD v4
7g.107915488T>GCA164257608DLDc.685-18T>G (n.685-18T>G)
c.*359-18T>G (n.*359-18T>G)
c.541-18T>G (n.541-18T>G)
c.616-18T>G (n.616-18T>G)
c.*428-18T>G (n.*428-18T>G)
c.388-18T>G (n.388-18T>G)
ClinVar dbSNP gnomAD v3 gnomAD v4
7g.107915488T=CA1732859297DLDc.685-18T= (n.685-18T=)
c.*359-18T= (n.*359-18T=)
c.541-18T= (n.541-18T=)
c.616-18T= (n.616-18T=)
c.*428-18T= (n.*428-18T=)
c.388-18T= (n.388-18T=)
7g.107915491T>GCA2578990155DLDc.685-15T>G (n.685-15T>G)
c.*359-15T>G (n.*359-15T>G)
c.541-15T>G (n.541-15T>G)
c.616-15T>G (n.616-15T>G)
c.*428-15T>G (n.*428-15T>G)
c.388-15T>G (n.388-15T>G)
7g.107915491_107915494delinsTTAACA1732859298DLDc.685-15_685-12delinsTTAA (n.685-15_685-12delinsTTAA)
c.*359-15_*359-12delinsTTAA (n.*359-15_*359-12delinsTTAA)
c.541-15_541-12delinsTTAA (n.541-15_541-12delinsTTAA)
c.616-15_616-12delinsTTAA (n.616-15_616-12delinsTTAA)
c.*428-15_*428-12delinsTTAA (n.*428-15_*428-12delinsTTAA)
c.388-15_388-12delinsTTAA (n.388-15_388-12delinsTTAA)
7g.107915492T>ACA290607DLDc.685-14T>A (n.685-14T>A)
c.*359-14T>A (n.*359-14T>A)
c.541-14T>A (n.541-14T>A)
c.616-14T>A (n.616-14T>A)
c.*428-14T>A (n.*428-14T>A)
c.388-14T>A (n.388-14T>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.107915492T>CCA2739279476DLDc.685-14T>C (n.685-14T>C)
c.*359-14T>C (n.*359-14T>C)
c.541-14T>C (n.541-14T>C)
c.616-14T>C (n.616-14T>C)
c.*428-14T>C (n.*428-14T>C)
c.388-14T>C (n.388-14T>C)
ClinVar
7g.107915492T=CA1732859299DLDc.685-14T= (n.685-14T=)
c.*359-14T= (n.*359-14T=)
c.541-14T= (n.541-14T=)
c.616-14T= (n.616-14T=)
c.*428-14T= (n.*428-14T=)
c.388-14T= (n.388-14T=)
7g.107915493_107915495delCA4434546DLDc.685-13_685-11del (n.685-13_685-11del)
c.*359-13_*359-11del (n.*359-13_*359-11del)
c.541-13_541-11del (n.541-13_541-11del)
c.616-13_616-11del (n.616-13_616-11del)
c.*428-13_*428-11del (n.*428-13_*428-11del)
c.388-13_388-11del (n.388-13_388-11del)
dbSNP ExAC gnomAD v2 gnomAD v4
7g.107915493A>CCA2684464712DLDc.685-13A>C (n.685-13A>C)
c.*359-13A>C (n.*359-13A>C)
c.541-13A>C (n.541-13A>C)
c.616-13A>C (n.616-13A>C)
c.*428-13A>C (n.*428-13A>C)
c.388-13A>C (n.388-13A>C)
gnomAD v4
7g.107915493A>GCA2684464714DLDc.685-13A>G (n.685-13A>G)
c.*359-13A>G (n.*359-13A>G)
c.541-13A>G (n.541-13A>G)
c.616-13A>G (n.616-13A>G)
c.*428-13A>G (n.*428-13A>G)
c.388-13A>G (n.388-13A>G)
gnomAD v4
7g.107915493_107915497delinsAATTTCA1732859300DLDc.685-13_685-9delinsAATTT (n.685-13_685-9delinsAATTT)
c.*359-13_*359-9delinsAATTT (n.*359-13_*359-9delinsAATTT)
c.541-13_541-9delinsAATTT (n.541-13_541-9delinsAATTT)
c.616-13_616-9delinsAATTT (n.616-13_616-9delinsAATTT)
c.*428-13_*428-9delinsAATTT (n.*428-13_*428-9delinsAATTT)
c.388-13_388-9delinsAATTT (n.388-13_388-9delinsAATTT)
7g.107915498_107915501delCA1105644163DLDc.685-8_685-5del (n.685-8_685-5del)
c.*359-8_*359-5del (n.*359-8_*359-5del)
c.541-8_541-5del (n.541-8_541-5del)
c.616-8_616-5del (n.616-8_616-5del)
c.*428-8_*428-5del (n.*428-8_*428-5del)
c.388-8_388-5del (n.388-8_388-5del)
ClinVar dbSNP gnomAD v3 gnomAD v4
7g.107915495T>ACA2715483562DLDc.685-11T>A (n.685-11T>A)
c.*359-11T>A (n.*359-11T>A)
c.541-11T>A (n.541-11T>A)
c.616-11T>A (n.616-11T>A)
c.*428-11T>A (n.*428-11T>A)
c.388-11T>A (n.388-11T>A)
dbSNP
7g.107915497delCA2684464718DLDc.685-9del (n.685-9del)
c.*359-9del (n.*359-9del)
c.541-9del (n.541-9del)
c.616-9del (n.616-9del)
c.*428-9del (n.*428-9del)
c.388-9del (n.388-9del)
gnomAD v4
7g.107915497_107915501delCA2697557534DLDc.685-9_685-5del (n.685-9_685-5del)
c.*359-9_*359-5del (n.*359-9_*359-5del)
c.541-9_541-5del (n.541-9_541-5del)
c.616-9_616-5del (n.616-9_616-5del)
c.*428-9_*428-5del (n.*428-9_*428-5del)
c.388-9_388-5del (n.388-9_388-5del)
ClinVar
7g.107915496T>GCA1732859301DLDc.685-10T>G (n.685-10T>G)
c.*359-10T>G (n.*359-10T>G)
c.541-10T>G (n.541-10T>G)
c.616-10T>G (n.616-10T>G)
c.*428-10T>G (n.*428-10T>G)
c.388-10T>G (n.388-10T>G)
dbSNP
7g.107915496T=CA1732859302DLDc.685-10T= (n.685-10T=)
c.*359-10T= (n.*359-10T=)
c.541-10T= (n.541-10T=)
c.616-10T= (n.616-10T=)
c.*428-10T= (n.*428-10T=)
c.388-10T= (n.388-10T=)
7g.107915501T>CCA4434547DLDc.685-5T>C (n.685-5T>C)
c.*359-5T>C (n.*359-5T>C)
c.541-5T>C (n.541-5T>C)
c.616-5T>C (n.616-5T>C)
c.*428-5T>C (n.*428-5T>C)
c.388-5T>C (n.388-5T>C)
dbSNP ExAC gnomAD v2 gnomAD v4
7g.107915501T=CA1732859303DLDc.685-5T= (n.685-5T=)
c.*359-5T= (n.*359-5T=)
c.541-5T= (n.541-5T=)
c.616-5T= (n.616-5T=)
c.*428-5T= (n.*428-5T=)
c.388-5T= (n.388-5T=)
7g.107915502G>ACA2499218652DLDc.685-4G>A (n.685-4G>A)
c.*359-4G>A (n.*359-4G>A)
c.541-4G>A (n.541-4G>A)
c.616-4G>A (n.616-4G>A)
c.*428-4G>A (n.*428-4G>A)
c.388-4G>A (n.388-4G>A)
ClinVar dbSNP
7g.107915502G=CA1732859304DLDc.685-4G= (n.685-4G=)
c.*359-4G= (n.*359-4G=)
c.541-4G= (n.541-4G=)
c.616-4G= (n.616-4G=)
c.*428-4G= (n.*428-4G=)
c.388-4G= (n.388-4G=)
7g.107915502G>TCA1732859305DLDc.685-4G>T (n.685-4G>T)
c.*359-4G>T (n.*359-4G>T)
c.541-4G>T (n.541-4G>T)
c.616-4G>T (n.616-4G>T)
c.*428-4G>T (n.*428-4G>T)
c.388-4G>T (n.388-4G>T)
ClinVar dbSNP gnomAD v4
7g.107915504A>CCA368856702DLDc.685-2A>C (n.685-2A>C)
c.*359-2A>C (n.*359-2A>C)
c.541-2A>C (n.541-2A>C)
c.616-2A>C (n.616-2A>C)
c.*428-2A>C (n.*428-2A>C)
c.388-2A>C (n.388-2A>C)
7g.107915504A>GCA368856703DLDc.685-2A>G (n.685-2A>G)
c.*359-2A>G (n.*359-2A>G)
c.541-2A>G (n.541-2A>G)
c.616-2A>G (n.616-2A>G)
c.*428-2A>G (n.*428-2A>G)
c.388-2A>G (n.388-2A>G)
7g.107915504A>TCA368856704DLDc.685-2A>T (n.685-2A>T)
c.*359-2A>T (n.*359-2A>T)
c.541-2A>T (n.541-2A>T)
c.616-2A>T (n.616-2A>T)
c.*428-2A>T (n.*428-2A>T)
c.388-2A>T (n.388-2A>T)
7g.107915505G>ACA368856705DLDc.685-1G>A (n.685-1G>A)
c.*359-1G>A (n.*359-1G>A)
c.541-1G>A (n.541-1G>A)
c.616-1G>A (n.616-1G>A)
c.*428-1G>A (n.*428-1G>A)
c.388-1G>A (n.388-1G>A)
7g.107915505G>CCA368856706DLDc.685-1G>C (n.685-1G>C)
c.*359-1G>C (n.*359-1G>C)
c.541-1G>C (n.541-1G>C)
c.616-1G>C (n.616-1G>C)
c.*428-1G>C (n.*428-1G>C)
c.388-1G>C (n.388-1G>C)
7g.107915505G>TCA368856707DLDc.685-1G>T (n.685-1G>T)
c.*359-1G>T (n.*359-1G>T)
c.541-1G>T (n.541-1G>T)
c.616-1G>T (n.616-1G>T)
c.*428-1G>T (n.*428-1G>T)
c.388-1G>T (n.388-1G>T)
7g.107915506G>ACA368856708DLDc.685G>A (p.Gly229Ser)
c.*359G>A (n.*359G>A)
c.541G>A (p.Gly181Ser)
c.616G>A (p.Gly206Ser)
c.*428G>A (n.*428G>A)
c.388G>A (p.Gly130Ser)
dbSNP gnomAD v3 gnomAD v4
7g.107915506G>CCA368856709DLDc.685G>C (p.Gly229Arg)
c.*359G>C (n.*359G>C)
c.541G>C (p.Gly181Arg)
c.616G>C (p.Gly206Arg)
c.*428G>C (n.*428G>C)
c.388G>C (p.Gly130Arg)
dbSNP gnomAD v2 gnomAD v4
7g.107915506G=CA1732859306DLDc.685G= (p.Gly229=)
c.*359G= (n.*359G=)
c.541G= (p.Gly181=)
c.616G= (p.Gly206=)
c.*428G= (n.*428G=)
c.388G= (p.Gly130=)
7g.107915506G>TCA312461DLDc.685G>T (p.Gly229Cys)
c.*359G>T (n.*359G>T)
c.541G>T (p.Gly181Cys)
c.616G>T (p.Gly206Cys)
c.*428G>T (n.*428G>T)
c.388G>T (p.Gly130Cys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.107915507G>ACA368856710DLDc.686G>A (p.Gly229Asp)
c.*360G>A (n.*360G>A)
c.542G>A (p.Gly181Asp)
c.617G>A (p.Gly206Asp)
c.*429G>A (n.*429G>A)
c.389G>A (p.Gly130Asp)
7g.107915507G>CCA368856712DLDc.686G>C (p.Gly229Ala)
c.*360G>C (n.*360G>C)
c.542G>C (p.Gly181Ala)
c.617G>C (p.Gly206Ala)
c.*429G>C (n.*429G>C)
c.389G>C (p.Gly130Ala)
7g.107915507G>TCA368856711DLDc.686G>T (p.Gly229Val)
c.*360G>T (n.*360G>T)
c.542G>T (p.Gly181Val)
c.617G>T (p.Gly206Val)
c.*429G>T (n.*429G>T)
c.389G>T (p.Gly130Val)
gnomAD v4
7g.107915508T>ACA457108672DLDc.687T>A (p.Gly229=)
c.*361T>A (n.*361T>A)
c.543T>A (p.Gly181=)
c.618T>A (p.Gly206=)
c.*430T>A (n.*430T>A)
c.390T>A (p.Gly130=)
7g.107915508T>CCA4434548DLDc.687T>C (p.Gly229=)
c.*361T>C (n.*361T>C)
c.543T>C (p.Gly181=)
c.618T>C (p.Gly206=)
c.*430T>C (n.*430T>C)
c.390T>C (p.Gly130=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.107915508T>GCA457108674DLDc.687T>G (p.Gly229=)
c.*361T>G (n.*361T>G)
c.543T>G (p.Gly181=)
c.618T>G (p.Gly206=)
c.*430T>G (n.*430T>G)
c.390T>G (p.Gly130=)
7g.107915508T=CA1732859307DLDc.687T= (p.Gly229=)
c.*361T= (n.*361T=)
c.543T= (p.Gly181=)
c.618T= (p.Gly206=)
c.*430T= (n.*430T=)
c.390T= (p.Gly130=)
7g.107915509T>ACA368856713DLDc.688T>A (p.Ser230Thr)
c.*362T>A (n.*362T>A)
c.544T>A (p.Ser182Thr)
c.619T>A (p.Ser207Thr)
c.*431T>A (n.*431T>A)
c.391T>A (p.Ser131Thr)
7g.107915509T>CCA368856714DLDc.688T>C (p.Ser230Pro)
c.*362T>C (n.*362T>C)
c.544T>C (p.Ser182Pro)
c.619T>C (p.Ser207Pro)
c.*431T>C (n.*431T>C)
c.391T>C (p.Ser131Pro)
7g.107915509T>GCA368856715DLDc.688T>G (p.Ser230Ala)
c.*362T>G (n.*362T>G)
c.544T>G (p.Ser182Ala)
c.619T>G (p.Ser207Ala)
c.*431T>G (n.*431T>G)
c.391T>G (p.Ser131Ala)
7g.107915510C>ACA368856716DLDc.689C>A (p.Ser230Ter)
c.*363C>A (n.*363C>A)
c.545C>A (p.Ser182Ter)
c.620C>A (p.Ser207Ter)
c.*432C>A (n.*432C>A)
c.392C>A (p.Ser131Ter)
7g.107915510C>GCA368856717DLDc.689C>G (p.Ser230Ter)
c.*363C>G (n.*363C>G)
c.545C>G (p.Ser182Ter)
c.620C>G (p.Ser207Ter)
c.*432C>G (n.*432C>G)
c.392C>G (p.Ser131Ter)
7g.107915510C>TCA368856718DLDc.689C>T (p.Ser230Leu)
c.*363C>T (n.*363C>T)
c.545C>T (p.Ser182Leu)
c.620C>T (p.Ser207Leu)
c.*432C>T (n.*432C>T)
c.392C>T (p.Ser131Leu)
7g.107915511A>CCA457108677DLDc.690A>C (p.Ser230=)
c.*364A>C (n.*364A>C)
c.546A>C (p.Ser182=)
c.621A>C (p.Ser207=)
c.*433A>C (n.*433A>C)
c.393A>C (p.Ser131=)
7g.107915511A>GCA457108678DLDc.690A>G (p.Ser230=)
c.*364A>G (n.*364A>G)
c.546A>G (p.Ser182=)
c.621A>G (p.Ser207=)
c.*433A>G (n.*433A>G)
c.393A>G (p.Ser131=)
7g.107915511A>TCA457108679DLDc.690A>T (p.Ser230=)
c.*364A>T (n.*364A>T)
c.546A>T (p.Ser182=)
c.621A>T (p.Ser207=)
c.*433A>T (n.*433A>T)
c.393A>T (p.Ser131=)
7g.107915512G>ACA368856719DLDc.691G>A (p.Val231Ile)
c.*365G>A (n.*365G>A)
c.547G>A (p.Val183Ile)
c.622G>A (p.Val208Ile)
c.*434G>A (n.*434G>A)
c.394G>A (p.Val132Ile)
7g.107915512G>CCA368856721DLDc.691G>C (p.Val231Leu)
c.*365G>C (n.*365G>C)
c.547G>C (p.Val183Leu)
c.622G>C (p.Val208Leu)
c.*434G>C (n.*434G>C)
c.394G>C (p.Val132Leu)
7g.107915512G>TCA368856723DLDc.691G>T (p.Val231Phe)
c.*365G>T (n.*365G>T)
c.547G>T (p.Val183Phe)
c.622G>T (p.Val208Phe)
c.*434G>T (n.*434G>T)
c.394G>T (p.Val132Phe)
7g.107915513T>ACA368856726DLDc.692T>A (p.Val231Asp)
c.*366T>A (n.*366T>A)
c.548T>A (p.Val183Asp)
c.623T>A (p.Val208Asp)
c.*435T>A (n.*435T>A)
c.395T>A (p.Val132Asp)
7g.107915513T>CCA368856728DLDc.692T>C (p.Val231Ala)
c.*366T>C (n.*366T>C)
c.548T>C (p.Val183Ala)
c.623T>C (p.Val208Ala)
c.*435T>C (n.*435T>C)
c.395T>C (p.Val132Ala)
7g.107915513T>GCA368856725DLDc.692T>G (p.Val231Gly)
c.*366T>G (n.*366T>G)
c.548T>G (p.Val183Gly)
c.623T>G (p.Val208Gly)
c.*435T>G (n.*435T>G)
c.395T>G (p.Val132Gly)
7g.107915515delCA2578990156DLDc.694del (p.Trp232GlyfsTer8)
c.*368del (n.*368del)
c.550del (p.Trp184GlyfsTer8)
c.625del (p.Trp209GlyfsTer8)
c.*437del (n.*437del)
c.397del (p.Trp133GlyfsTer8)
7g.107915514T>ACA457108681DLDc.693T>A (p.Val231=)
c.*367T>A (n.*367T>A)
c.549T>A (p.Val183=)
c.624T>A (p.Val208=)
c.*436T>A (n.*436T>A)
c.396T>A (p.Val132=)
7g.107915514T>CCA457108683DLDc.693T>C (p.Val231=)
c.*367T>C (n.*367T>C)
c.549T>C (p.Val183=)
c.624T>C (p.Val208=)
c.*436T>C (n.*436T>C)
c.396T>C (p.Val132=)
7g.107915514T>GCA457108684DLDc.693T>G (p.Val231=)
c.*367T>G (n.*367T>G)
c.549T>G (p.Val183=)
c.624T>G (p.Val208=)
c.*436T>G (n.*436T>G)
c.396T>G (p.Val132=)
7g.107915515T>ACA368856730DLDc.694T>A (p.Trp232Arg)
c.*368T>A (n.*368T>A)
c.550T>A (p.Trp184Arg)
c.625T>A (p.Trp209Arg)
c.*437T>A (n.*437T>A)
c.397T>A (p.Trp133Arg)
7g.107915515T>CCA368856732DLDc.694T>C (p.Trp232Arg)
c.*368T>C (n.*368T>C)
c.550T>C (p.Trp184Arg)
c.625T>C (p.Trp209Arg)
c.*437T>C (n.*437T>C)
c.397T>C (p.Trp133Arg)
7g.107915515T>GCA368856733DLDc.694T>G (p.Trp232Gly)
c.*368T>G (n.*368T>G)
c.550T>G (p.Trp184Gly)
c.625T>G (p.Trp209Gly)
c.*437T>G (n.*437T>G)
c.397T>G (p.Trp133Gly)
7g.107915516G>ACA368856734DLDc.695G>A (p.Trp232Ter)
c.*369G>A (n.*369G>A)
c.551G>A (p.Trp184Ter)
c.626G>A (p.Trp209Ter)
c.*438G>A (n.*438G>A)
c.398G>A (p.Trp133Ter)
7g.107915516G>CCA368856735DLDc.695G>C (p.Trp232Ser)
c.*369G>C (n.*369G>C)
c.551G>C (p.Trp184Ser)
c.626G>C (p.Trp209Ser)
c.*438G>C (n.*438G>C)
c.398G>C (p.Trp133Ser)
7g.107915516G>TCA368856737DLDc.695G>T (p.Trp232Leu)
c.*369G>T (n.*369G>T)
c.551G>T (p.Trp184Leu)
c.626G>T (p.Trp209Leu)
c.*438G>T (n.*438G>T)
c.398G>T (p.Trp133Leu)
7g.107915517G>ACA368856739DLDc.696G>A (p.Trp232Ter)
c.*370G>A (n.*370G>A)
c.552G>A (p.Trp184Ter)
c.627G>A (p.Trp209Ter)
c.*439G>A (n.*439G>A)
c.399G>A (p.Trp133Ter)
gnomAD v4
7g.107915517G>CCA368856741DLDc.696G>C (p.Trp232Cys)
c.*370G>C (n.*370G>C)
c.552G>C (p.Trp184Cys)
c.627G>C (p.Trp209Cys)
c.*439G>C (n.*439G>C)
c.399G>C (p.Trp133Cys)
7g.107915517G>TCA368856743DLDc.696G>T (p.Trp232Cys)
c.*370G>T (n.*370G>T)
c.552G>T (p.Trp184Cys)
c.627G>T (p.Trp209Cys)
c.*439G>T (n.*439G>T)
c.399G>T (p.Trp133Cys)
7g.107915518C>ACA368856745DLDc.697C>A (p.Gln233Lys)
c.*371C>A (n.*371C>A)
c.553C>A (p.Gln185Lys)
c.628C>A (p.Gln210Lys)
c.*440C>A (n.*440C>A)
c.400C>A (p.Gln134Lys)
7g.107915518C>GCA368856747DLDc.697C>G (p.Gln233Glu)
c.*371C>G (n.*371C>G)
c.553C>G (p.Gln185Glu)
c.628C>G (p.Gln210Glu)
c.*440C>G (n.*440C>G)
c.400C>G (p.Gln134Glu)
7g.107915518C>TCA368856748DLDc.697C>T (p.Gln233Ter)
c.*371C>T (n.*371C>T)
c.553C>T (p.Gln185Ter)
c.628C>T (p.Gln210Ter)
c.*440C>T (n.*440C>T)
c.400C>T (p.Gln134Ter)
7g.107915519A>CCA368856751DLDc.698A>C (p.Gln233Pro)
c.*372A>C (n.*372A>C)
c.554A>C (p.Gln185Pro)
c.629A>C (p.Gln210Pro)
c.*441A>C (n.*441A>C)
c.401A>C (p.Gln134Pro)
7g.107915519A>GCA368856753DLDc.698A>G (p.Gln233Arg)
c.*372A>G (n.*372A>G)
c.554A>G (p.Gln185Arg)
c.629A>G (p.Gln210Arg)
c.*441A>G (n.*441A>G)
c.401A>G (p.Gln134Arg)
gnomAD v4
7g.107915519A>TCA368856749DLDc.698A>T (p.Gln233Leu)
c.*372A>T (n.*372A>T)
c.554A>T (p.Gln185Leu)
c.629A>T (p.Gln210Leu)
c.*441A>T (n.*441A>T)
c.401A>T (p.Gln134Leu)
7g.107915520A=CA1732859308DLDc.699A= (p.Gln233=)
c.*373A= (n.*373A=)
c.555A= (p.Gln185=)
c.630A= (p.Gln210=)
c.*442A= (n.*442A=)
c.402A= (p.Gln134=)
7g.107915520A>CCA368856755DLDc.699A>C (p.Gln233His)
c.*373A>C (n.*373A>C)
c.555A>C (p.Gln185His)
c.630A>C (p.Gln210His)
c.*442A>C (n.*442A>C)
c.402A>C (p.Gln134His)
7g.107915520A>GCA457108690DLDc.699A>G (p.Gln233=)
c.*373A>G (n.*373A>G)
c.555A>G (p.Gln185=)
c.630A>G (p.Gln210=)
c.*442A>G (n.*442A>G)
c.402A>G (p.Gln134=)
ClinVar dbSNP gnomAD v2 gnomAD v4
7g.107915520A>TCA368856756DLDc.699A>T (p.Gln233His)
c.*373A>T (n.*373A>T)
c.555A>T (p.Gln185His)
c.630A>T (p.Gln210His)
c.*442A>T (n.*442A>T)
c.402A>T (p.Gln134His)
7g.107915521A=CA1732859309DLDc.700A= (p.Arg234=)
c.*374A= (n.*374A=)
c.556A= (p.Arg186=)
c.631A= (p.Arg211=)
c.*443A= (n.*443A=)
c.403A= (p.Arg135=)
7g.107915521A>CCA4434549DLDc.700A>C (p.Arg234=)
c.*374A>C (n.*374A>C)
c.556A>C (p.Arg186=)
c.631A>C (p.Arg211=)
c.*443A>C (n.*443A>C)
c.403A>C (p.Arg135=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.107915521A>GCA368856760DLDc.700A>G (p.Arg234Gly)
c.*374A>G (n.*374A>G)
c.556A>G (p.Arg186Gly)
c.631A>G (p.Arg211Gly)
c.*443A>G (n.*443A>G)
c.403A>G (p.Arg135Gly)
7g.107915521A>TCA368856761DLDc.700A>T (p.Arg234Ter)
c.*374A>T (n.*374A>T)
c.556A>T (p.Arg186Ter)
c.631A>T (p.Arg211Ter)
c.*443A>T (n.*443A>T)
c.403A>T (p.Arg135Ter)
7g.107915522G>ACA368856767DLDc.701G>A (p.Arg234Lys)
c.*375G>A (n.*375G>A)
c.557G>A (p.Arg186Lys)
c.632G>A (p.Arg211Lys)
c.*444G>A (n.*444G>A)
c.404G>A (p.Arg135Lys)
7g.107915522G>CCA368856764DLDc.701G>C (p.Arg234Thr)
c.*375G>C (n.*375G>C)
c.557G>C (p.Arg186Thr)
c.632G>C (p.Arg211Thr)
c.*444G>C (n.*444G>C)
c.404G>C (p.Arg135Thr)
7g.107915522G>TCA368856766DLDc.701G>T (p.Arg234Ile)
c.*375G>T (n.*375G>T)
c.557G>T (p.Arg186Ile)
c.632G>T (p.Arg211Ile)
c.*444G>T (n.*444G>T)
c.404G>T (p.Arg135Ile)
7g.107915523A>CCA368856770DLDc.702A>C (p.Arg234Ser)
c.*376A>C (n.*376A>C)
c.558A>C (p.Arg186Ser)
c.633A>C (p.Arg211Ser)
c.*445A>C (n.*445A>C)
c.405A>C (p.Arg135Ser)
7g.107915523A>GCA457108694DLDc.702A>G (p.Arg234=)
c.*376A>G (n.*376A>G)
c.558A>G (p.Arg186=)
c.633A>G (p.Arg211=)
c.*445A>G (n.*445A>G)
c.405A>G (p.Arg135=)
7g.107915523A>TCA368856772DLDc.702A>T (p.Arg234Ser)
c.*376A>T (n.*376A>T)
c.558A>T (p.Arg186Ser)
c.633A>T (p.Arg211Ser)
c.*445A>T (n.*445A>T)
c.405A>T (p.Arg135Ser)
7g.107915524C>ACA368856773DLDc.703C>A (p.Leu235Ile)
c.*377C>A (n.*377C>A)
c.559C>A (p.Leu187Ile)
c.634C>A (p.Leu212Ile)
c.*446C>A (n.*446C>A)
c.406C>A (p.Leu136Ile)
7g.107915524C=CA1732859311DLDc.703C= (p.Leu235=)
c.*377C= (n.*377C=)
c.559C= (p.Leu187=)
c.634C= (p.Leu212=)
c.*446C= (n.*446C=)
c.406C= (p.Leu136=)
7g.107915524C>GCA368856775DLDc.703C>G (p.Leu235Val)
c.*377C>G (n.*377C>G)
c.559C>G (p.Leu187Val)
c.634C>G (p.Leu212Val)
c.*446C>G (n.*446C>G)
c.406C>G (p.Leu136Val)
gnomAD v4
7g.107915524C>TCA368856777DLDc.703C>T (p.Leu235Phe)
c.*377C>T (n.*377C>T)
c.559C>T (p.Leu187Phe)
c.634C>T (p.Leu212Phe)
c.*446C>T (n.*446C>T)
c.406C>T (p.Leu136Phe)
dbSNP gnomAD v4
7g.107915524_107915526delinsCTTCA1732859310DLDc.703_705delinsCTT (p.Leu235=)
c.*377_*379delinsCTT (n.*377_*379delinsCTT)
c.559_561delinsCTT (p.Leu187=)
c.634_636delinsCTT (p.Leu212=)
c.*446_*448delinsCTT (n.*446_*448delinsCTT)
c.406_408delinsCTT (p.Leu136=)
7g.107915525T>ACA368856783DLDc.704T>A (p.Leu235His)
c.*378T>A (n.*378T>A)
c.560T>A (p.Leu187His)
c.635T>A (p.Leu212His)
c.*447T>A (n.*447T>A)
c.407T>A (p.Leu136His)
7g.107915525T>CCA368856785DLDc.704T>C (p.Leu235Pro)
c.*378T>C (n.*378T>C)
c.560T>C (p.Leu187Pro)
c.635T>C (p.Leu212Pro)
c.*447T>C (n.*447T>C)
c.407T>C (p.Leu136Pro)
7g.107915525T>GCA368856781DLDc.704T>G (p.Leu235Arg)
c.*378T>G (n.*378T>G)
c.560T>G (p.Leu187Arg)
c.635T>G (p.Leu212Arg)
c.*447T>G (n.*447T>G)
c.407T>G (p.Leu136Arg)
7g.107915525_107915526delCA4434550DLDc.704_705del (p.Leu235ArgfsTer8)
c.*378_*379del (n.*378_*379del)
c.560_561del (p.Leu187ArgfsTer8)
c.635_636del (p.Leu212ArgfsTer8)
c.*447_*448del (n.*447_*448del)
c.407_408del (p.Leu136ArgfsTer8)
dbSNP ExAC gnomAD v2
7g.107915526T>ACA457108699DLDc.705T>A (p.Leu235=)
c.*379T>A (n.*379T>A)
c.561T>A (p.Leu187=)
c.636T>A (p.Leu212=)
c.*448T>A (n.*448T>A)
c.408T>A (p.Leu136=)
7g.107915526T>CCA457108700DLDc.705T>C (p.Leu235=)
c.*379T>C (n.*379T>C)
c.561T>C (p.Leu187=)
c.636T>C (p.Leu212=)
c.*448T>C (n.*448T>C)
c.408T>C (p.Leu136=)
7g.107915526T>GCA457108702DLDc.705T>G (p.Leu235=)
c.*379T>G (n.*379T>G)
c.561T>G (p.Leu187=)
c.636T>G (p.Leu212=)
c.*448T>G (n.*448T>G)
c.408T>G (p.Leu136=)
7g.107915527G>ACA368856788DLDc.706G>A (p.Gly236Ser)
c.*380G>A (n.*380G>A)
c.562G>A (p.Gly188Ser)
c.637G>A (p.Gly213Ser)
c.*449G>A (n.*449G>A)
c.409G>A (p.Gly137Ser)
7g.107915527G>CCA368856787DLDc.706G>C (p.Gly236Arg)
c.*380G>C (n.*380G>C)
c.562G>C (p.Gly188Arg)
c.637G>C (p.Gly213Arg)
c.*449G>C (n.*449G>C)
c.409G>C (p.Gly137Arg)
7g.107915527G>TCA368856791DLDc.706G>T (p.Gly236Cys)
c.*380G>T (n.*380G>T)
c.562G>T (p.Gly188Cys)
c.637G>T (p.Gly213Cys)
c.*449G>T (n.*449G>T)
c.409G>T (p.Gly137Cys)
COSMIC COSMIC
7g.107915528G>ACA368856793DLDc.707G>A (p.Gly236Asp)
c.*381G>A (n.*381G>A)
c.563G>A (p.Gly188Asp)
c.638G>A (p.Gly213Asp)
c.*450G>A (n.*450G>A)
c.410G>A (p.Gly137Asp)
7g.107915528G>CCA368856794DLDc.707G>C (p.Gly236Ala)
c.*381G>C (n.*381G>C)
c.563G>C (p.Gly188Ala)
c.638G>C (p.Gly213Ala)
c.*450G>C (n.*450G>C)
c.410G>C (p.Gly137Ala)
7g.107915528G>TCA368856795DLDc.707G>T (p.Gly236Val)
c.*381G>T (n.*381G>T)
c.563G>T (p.Gly188Val)
c.638G>T (p.Gly213Val)
c.*450G>T (n.*450G>T)
c.410G>T (p.Gly137Val)
7g.107915529T>ACA457108707DLDc.708T>A (p.Gly236=)
c.*382T>A (n.*382T>A)
c.564T>A (p.Gly188=)
c.639T>A (p.Gly213=)
c.*451T>A (n.*451T>A)
c.411T>A (p.Gly137=)
7g.107915529T>CCA457108708DLDc.708T>C (p.Gly236=)
c.*382T>C (n.*382T>C)
c.564T>C (p.Gly188=)
c.639T>C (p.Gly213=)
c.*451T>C (n.*451T>C)
c.411T>C (p.Gly137=)
7g.107915529T>GCA457108709DLDc.708T>G (p.Gly236=)
c.*382T>G (n.*382T>G)
c.564T>G (p.Gly188=)
c.639T>G (p.Gly213=)
c.*451T>G (n.*451T>G)
c.411T>G (p.Gly137=)
7g.107915530G>ACA368856797DLDc.709G>A (p.Ala237Thr)
c.*383G>A (n.*383G>A)
c.565G>A (p.Ala189Thr)
c.640G>A (p.Ala214Thr)
c.*452G>A (n.*452G>A)
c.412G>A (p.Ala138Thr)
7g.107915530G>CCA368856798DLDc.709G>C (p.Ala237Pro)
c.*383G>C (n.*383G>C)
c.565G>C (p.Ala189Pro)
c.640G>C (p.Ala214Pro)
c.*452G>C (n.*452G>C)
c.412G>C (p.Ala138Pro)
7g.107915530G>TCA368856800DLDc.709G>T (p.Ala237Ser)
c.*383G>T (n.*383G>T)
c.565G>T (p.Ala189Ser)
c.640G>T (p.Ala214Ser)
c.*452G>T (n.*452G>T)
c.412G>T (p.Ala138Ser)
7g.107915531C>ACA368856802DLDc.710C>A (p.Ala237Glu)
c.*384C>A (n.*384C>A)
c.566C>A (p.Ala189Glu)
c.641C>A (p.Ala214Glu)
c.*453C>A (n.*453C>A)
c.413C>A (p.Ala138Glu)
7g.107915531C=CA1732859312DLDc.710C= (p.Ala237=)
c.*384C= (n.*384C=)
c.566C= (p.Ala189=)
c.641C= (p.Ala214=)
c.*453C= (n.*453C=)
c.413C= (p.Ala138=)
7g.107915531C>GCA368856804DLDc.710C>G (p.Ala237Gly)
c.*384C>G (n.*384C>G)
c.566C>G (p.Ala189Gly)
c.641C>G (p.Ala214Gly)
c.*453C>G (n.*453C>G)
c.413C>G (p.Ala138Gly)
dbSNP gnomAD v2 gnomAD v4
7g.107915531C>TCA368856806DLDc.710C>T (p.Ala237Val)
c.*384C>T (n.*384C>T)
c.566C>T (p.Ala189Val)
c.641C>T (p.Ala214Val)
c.*453C>T (n.*453C>T)
c.413C>T (p.Ala138Val)
7g.107915532A>CCA457108714DLDc.711A>C (p.Ala237=)
c.*385A>C (n.*385A>C)
c.567A>C (p.Ala189=)
c.642A>C (p.Ala214=)
c.*454A>C (n.*454A>C)
c.414A>C (p.Ala138=)
7g.107915532A>GCA457108715DLDc.711A>G (p.Ala237=)
c.*385A>G (n.*385A>G)
c.567A>G (p.Ala189=)
c.642A>G (p.Ala214=)
c.*454A>G (n.*454A>G)
c.414A>G (p.Ala138=)
7g.107915532A>TCA457108716DLDc.711A>T (p.Ala237=)
c.*385A>T (n.*385A>T)
c.567A>T (p.Ala189=)
c.642A>T (p.Ala214=)
c.*454A>T (n.*454A>T)
c.414A>T (p.Ala138=)
7g.107915533G>ACA368856808DLDc.712G>A (p.Asp238Asn)
c.*386G>A (n.*386G>A)
c.568G>A (p.Asp190Asn)
c.643G>A (p.Asp215Asn)
c.*455G>A (n.*455G>A)
c.415G>A (p.Asp139Asn)
7g.107915533G>CCA368856810DLDc.712G>C (p.Asp238His)
c.*386G>C (n.*386G>C)
c.568G>C (p.Asp190His)
c.643G>C (p.Asp215His)
c.*455G>C (n.*455G>C)
c.415G>C (p.Asp139His)
7g.107915533G>TCA368856812DLDc.712G>T (p.Asp238Tyr)
c.*386G>T (n.*386G>T)
c.568G>T (p.Asp190Tyr)
c.643G>T (p.Asp215Tyr)
c.*455G>T (n.*455G>T)
c.415G>T (p.Asp139Tyr)
7g.107915534A>CCA368856818DLDc.713A>C (p.Asp238Ala)
c.*387A>C (n.*387A>C)
c.569A>C (p.Asp190Ala)
c.644A>C (p.Asp215Ala)
c.*456A>C (n.*456A>C)
c.416A>C (p.Asp139Ala)
7g.107915534A>GCA368856814DLDc.713A>G (p.Asp238Gly)
c.*387A>G (n.*387A>G)
c.569A>G (p.Asp190Gly)
c.644A>G (p.Asp215Gly)
c.*456A>G (n.*456A>G)
c.416A>G (p.Asp139Gly)
7g.107915534A>TCA368856816DLDc.713A>T (p.Asp238Val)
c.*387A>T (n.*387A>T)
c.569A>T (p.Asp190Val)
c.644A>T (p.Asp215Val)
c.*456A>T (n.*456A>T)
c.416A>T (p.Asp139Val)
7g.107915535T>ACA368856820DLDc.714T>A (p.Asp238Glu)
c.*388T>A (n.*388T>A)
c.570T>A (p.Asp190Glu)
c.645T>A (p.Asp215Glu)
c.*457T>A (n.*457T>A)
c.417T>A (p.Asp139Glu)
7g.107915535T>CCA457108720DLDc.714T>C (p.Asp238=)
c.*388T>C (n.*388T>C)
c.570T>C (p.Asp190=)
c.645T>C (p.Asp215=)
c.*457T>C (n.*457T>C)
c.417T>C (p.Asp139=)
7g.107915535T>GCA368856821DLDc.714T>G (p.Asp238Glu)
c.*388T>G (n.*388T>G)
c.570T>G (p.Asp190Glu)
c.645T>G (p.Asp215Glu)
c.*457T>G (n.*457T>G)
c.417T>G (p.Asp139Glu)
7g.107915536G>ACA368856824DLDc.715G>A (p.Val239Met)
c.*389G>A (n.*389G>A)
c.571G>A (p.Val191Met)
c.646G>A (p.Val216Met)
c.*458G>A (n.*458G>A)
c.418G>A (p.Val140Met)
dbSNP gnomAD v3 gnomAD v4
7g.107915536G>CCA368856826DLDc.715G>C (p.Val239Leu)
c.*389G>C (n.*389G>C)
c.571G>C (p.Val191Leu)
c.646G>C (p.Val216Leu)
c.*458G>C (n.*458G>C)
c.418G>C (p.Val140Leu)
7g.107915536G=CA1732859313DLDc.715G= (p.Val239=)
c.*389G= (n.*389G=)
c.571G= (p.Val191=)
c.646G= (p.Val216=)
c.*458G= (n.*458G=)
c.418G= (p.Val140=)
7g.107915536G>TCA368856827DLDc.715G>T (p.Val239Leu)
c.*389G>T (n.*389G>T)
c.571G>T (p.Val191Leu)
c.646G>T (p.Val216Leu)
c.*458G>T (n.*458G>T)
c.418G>T (p.Val140Leu)
7g.107915537T>ACA368856830DLDc.716T>A (p.Val239Glu)
c.*390T>A (n.*390T>A)
c.572T>A (p.Val191Glu)
c.647T>A (p.Val216Glu)
c.*459T>A (n.*459T>A)
c.419T>A (p.Val140Glu)
7g.107915537T>CCA368856831DLDc.716T>C (p.Val239Ala)
c.*390T>C (n.*390T>C)
c.572T>C (p.Val191Ala)
c.647T>C (p.Val216Ala)
c.*459T>C (n.*459T>C)
c.419T>C (p.Val140Ala)
7g.107915537T>GCA368856833DLDc.716T>G (p.Val239Gly)
c.*390T>G (n.*390T>G)
c.572T>G (p.Val191Gly)
c.647T>G (p.Val216Gly)
c.*459T>G (n.*459T>G)
c.419T>G (p.Val140Gly)
7g.107915538G>ACA457108723DLDc.717G>A (p.Val239=)
c.*391G>A (n.*391G>A)
c.573G>A (p.Val191=)
c.648G>A (p.Val216=)
c.*460G>A (n.*460G>A)
c.420G>A (p.Val140=)
7g.107915538G>CCA457108725DLDc.717G>C (p.Val239=)
c.*391G>C (n.*391G>C)
c.573G>C (p.Val191=)
c.648G>C (p.Val216=)
c.*460G>C (n.*460G>C)
c.420G>C (p.Val140=)
7g.107915538G>TCA457108727DLDc.717G>T (p.Val239=)
c.*391G>T (n.*391G>T)
c.573G>T (p.Val191=)
c.648G>T (p.Val216=)
c.*460G>T (n.*460G>T)
c.420G>T (p.Val140=)
7g.107915539A>CCA368856835DLDc.718A>C (p.Thr240Pro)
c.*392A>C (n.*392A>C)
c.574A>C (p.Thr192Pro)
c.649A>C (p.Thr217Pro)
c.*461A>C (n.*461A>C)
c.421A>C (p.Thr141Pro)
7g.107915539A>GCA368856837DLDc.718A>G (p.Thr240Ala)
c.*392A>G (n.*392A>G)
c.574A>G (p.Thr192Ala)
c.649A>G (p.Thr217Ala)
c.*461A>G (n.*461A>G)
c.421A>G (p.Thr141Ala)
gnomAD v4
7g.107915539A>TCA368856839DLDc.718A>T (p.Thr240Ser)
c.*392A>T (n.*392A>T)
c.574A>T (p.Thr192Ser)
c.649A>T (p.Thr217Ser)
c.*461A>T (n.*461A>T)
c.421A>T (p.Thr141Ser)
7g.107915540C>ACA368856843DLDc.719C>A (p.Thr240Lys)
c.*393C>A (n.*393C>A)
c.575C>A (p.Thr192Lys)
c.650C>A (p.Thr217Lys)
c.*462C>A (n.*462C>A)
c.422C>A (p.Thr141Lys)
7g.107915540C=CA1732859314DLDc.719C= (p.Thr240=)
c.*393C= (n.*393C=)
c.575C= (p.Thr192=)
c.650C= (p.Thr217=)
c.*462C= (n.*462C=)
c.422C= (p.Thr141=)
7g.107915540C>GCA368856845DLDc.719C>G (p.Thr240Arg)
c.*393C>G (n.*393C>G)
c.575C>G (p.Thr192Arg)
c.650C>G (p.Thr217Arg)
c.*462C>G (n.*462C>G)
c.422C>G (p.Thr141Arg)
7g.107915540C>TCA368856841DLDc.719C>T (p.Thr240Ile)
c.*393C>T (n.*393C>T)
c.575C>T (p.Thr192Ile)
c.650C>T (p.Thr217Ile)
c.*462C>T (n.*462C>T)
c.422C>T (p.Thr141Ile)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.107915541A=CA1732859315DLDc.720A= (p.Thr240=)
c.*394A= (n.*394A=)
c.576A= (p.Thr192=)
c.651A= (p.Thr217=)
c.*463A= (n.*463A=)
c.423A= (p.Thr141=)
7g.107915541A>CCA457108732DLDc.720A>C (p.Thr240=)
c.*394A>C (n.*394A>C)
c.576A>C (p.Thr192=)
c.651A>C (p.Thr217=)
c.*463A>C (n.*463A>C)
c.423A>C (p.Thr141=)
7g.107915541A>GCA457108736DLDc.720A>G (p.Thr240=)
c.*394A>G (n.*394A>G)
c.576A>G (p.Thr192=)
c.651A>G (p.Thr217=)
c.*463A>G (n.*463A>G)
c.423A>G (p.Thr141=)
ClinVar dbSNP gnomAD v3 gnomAD v4
7g.107915541A>TCA457108734DLDc.720A>T (p.Thr240=)
c.*394A>T (n.*394A>T)
c.576A>T (p.Thr192=)
c.651A>T (p.Thr217=)
c.*463A>T (n.*463A>T)
c.423A>T (p.Thr141=)
7g.107915542G>ACA368856847DLDc.721G>A (p.Ala241Thr)
c.*395G>A (n.*395G>A)
c.577G>A (p.Ala193Thr)
c.652G>A (p.Ala218Thr)
c.*464G>A (n.*464G>A)
c.424G>A (p.Ala142Thr)
gnomAD v4 COSMIC COSMIC
7g.107915542G>CCA368856849DLDc.721G>C (p.Ala241Pro)
c.*395G>C (n.*395G>C)
c.577G>C (p.Ala193Pro)
c.652G>C (p.Ala218Pro)
c.*464G>C (n.*464G>C)
c.424G>C (p.Ala142Pro)
7g.107915542G>TCA368856851DLDc.721G>T (p.Ala241Ser)
c.*395G>T (n.*395G>T)
c.577G>T (p.Ala193Ser)
c.652G>T (p.Ala218Ser)
c.*464G>T (n.*464G>T)
c.424G>T (p.Ala142Ser)
7g.107915543C>ACA368856853DLDc.722C>A (p.Ala241Glu)
c.*396C>A (n.*396C>A)
c.578C>A (p.Ala193Glu)
c.653C>A (p.Ala218Glu)
c.*465C>A (n.*465C>A)
c.425C>A (p.Ala142Glu)
7g.107915543C=CA1732859316DLDc.722C= (p.Ala241=)
c.*396C= (n.*396C=)
c.578C= (p.Ala193=)
c.653C= (p.Ala218=)
c.*465C= (n.*465C=)
c.425C= (p.Ala142=)
7g.107915543C>GCA368856855DLDc.722C>G (p.Ala241Gly)
c.*396C>G (n.*396C>G)
c.578C>G (p.Ala193Gly)
c.653C>G (p.Ala218Gly)
c.*465C>G (n.*465C>G)
c.425C>G (p.Ala142Gly)
7g.107915543C>TCA312462DLDc.722C>T (p.Ala241Val)
c.*396C>T (n.*396C>T)
c.578C>T (p.Ala193Val)
c.653C>T (p.Ala218Val)
c.*465C>T (n.*465C>T)
c.425C>T (p.Ala142Val)
ClinVar dbSNP gnomAD v4
7g.107915544A=CA1732859317DLDc.723A= (p.Ala241=)
c.*397A= (n.*397A=)
c.579A= (p.Ala193=)
c.654A= (p.Ala218=)
c.*466A= (n.*466A=)
c.426A= (p.Ala142=)
7g.107915544A>CCA4434551DLDc.723A>C (p.Ala241=)
c.*397A>C (n.*397A>C)
c.579A>C (p.Ala193=)
c.654A>C (p.Ala218=)
c.*466A>C (n.*466A>C)
c.426A>C (p.Ala142=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.107915544A>GCA457108738DLDc.723A>G (p.Ala241=)
c.*397A>G (n.*397A>G)
c.579A>G (p.Ala193=)
c.654A>G (p.Ala218=)
c.*466A>G (n.*466A>G)
c.426A>G (p.Ala142=)
ClinVar dbSNP
7g.107915544A>TCA457108737DLDc.723A>T (p.Ala241=)
c.*397A>T (n.*397A>T)
c.579A>T (p.Ala193=)
c.654A>T (p.Ala218=)
c.*466A>T (n.*466A>T)
c.426A>T (p.Ala142=)
7g.107915545G>ACA368856858DLDc.724G>A (p.Val242Ile)
c.*398G>A (n.*398G>A)
c.580G>A (p.Val194Ile)
c.655G>A (p.Val219Ile)
c.*467G>A (n.*467G>A)
c.427G>A (p.Val143Ile)
7g.107915545G>CCA368856860DLDc.724G>C (p.Val242Leu)
c.*398G>C (n.*398G>C)
c.580G>C (p.Val194Leu)
c.655G>C (p.Val219Leu)
c.*467G>C (n.*467G>C)
c.427G>C (p.Val143Leu)
7g.107915545G>TCA368856862DLDc.724G>T (p.Val242Phe)
c.*398G>T (n.*398G>T)
c.580G>T (p.Val194Phe)
c.655G>T (p.Val219Phe)
c.*467G>T (n.*467G>T)
c.427G>T (p.Val143Phe)
7g.107915546T>ACA368856864DLDc.725T>A (p.Val242Asp)
c.*399T>A (n.*399T>A)
c.581T>A (p.Val194Asp)
c.656T>A (p.Val219Asp)
c.*468T>A (n.*468T>A)
c.428T>A (p.Val143Asp)
7g.107915546T>CCA368856866DLDc.725T>C (p.Val242Ala)
c.*399T>C (n.*399T>C)
c.581T>C (p.Val194Ala)
c.656T>C (p.Val219Ala)
c.*468T>C (n.*468T>C)
c.428T>C (p.Val143Ala)
dbSNP gnomAD v4
7g.107915546T>GCA368856868DLDc.725T>G (p.Val242Gly)
c.*399T>G (n.*399T>G)
c.581T>G (p.Val194Gly)
c.656T>G (p.Val219Gly)
c.*468T>G (n.*468T>G)
c.428T>G (p.Val143Gly)
7g.107915546T=CA1732859318DLDc.725T= (p.Val242=)
c.*399T= (n.*399T=)
c.581T= (p.Val194=)
c.656T= (p.Val219=)
c.*468T= (n.*468T=)
c.428T= (p.Val143=)
7g.107915547T>ACA457108739DLDc.726T>A (p.Val242=)
c.*400T>A (n.*400T>A)
c.582T>A (p.Val194=)
c.657T>A (p.Val219=)
c.*469T>A (n.*469T>A)
c.429T>A (p.Val143=)
7g.107915547T>CCA457108740DLDc.726T>C (p.Val242=)
c.*400T>C (n.*400T>C)
c.582T>C (p.Val194=)
c.657T>C (p.Val219=)
c.*469T>C (n.*469T>C)
c.429T>C (p.Val143=)
7g.107915547T>GCA457108741DLDc.726T>G (p.Val242=)
c.*400T>G (n.*400T>G)
c.582T>G (p.Val194=)
c.657T>G (p.Val219=)
c.*469T>G (n.*469T>G)
c.429T>G (p.Val143=)
7g.107915548G>ACA368856877DLDc.727G>A (p.Glu243Lys)
c.*401G>A (n.*401G>A)
c.583G>A (p.Glu195Lys)
c.658G>A (p.Glu220Lys)
c.*470G>A (n.*470G>A)
c.430G>A (p.Glu144Lys)
7g.107915548G>CCA368856875DLDc.727G>C (p.Glu243Gln)
c.*401G>C (n.*401G>C)
c.583G>C (p.Glu195Gln)
c.658G>C (p.Glu220Gln)
c.*470G>C (n.*470G>C)
c.430G>C (p.Glu144Gln)
dbSNP gnomAD v2
7g.107915548G=CA1732859319DLDc.727G= (p.Glu243=)
c.*401G= (n.*401G=)
c.583G= (p.Glu195=)
c.658G= (p.Glu220=)
c.*470G= (n.*470G=)
c.430G= (p.Glu144=)
7g.107915548G>TCA368856870DLDc.727G>T (p.Glu243Ter)
c.*401G>T (n.*401G>T)
c.583G>T (p.Glu195Ter)
c.658G>T (p.Glu220Ter)
c.*470G>T (n.*470G>T)
c.430G>T (p.Glu144Ter)
7g.107915549A>CCA368856880DLDc.728A>C (p.Glu243Ala)
c.*402A>C (n.*402A>C)
c.584A>C (p.Glu195Ala)
c.659A>C (p.Glu220Ala)
c.*471A>C (n.*471A>C)
c.431A>C (p.Glu144Ala)
7g.107915549A>GCA368856882DLDc.728A>G (p.Glu243Gly)
c.*402A>G (n.*402A>G)
c.584A>G (p.Glu195Gly)
c.659A>G (p.Glu220Gly)
c.*471A>G (n.*471A>G)
c.431A>G (p.Glu144Gly)
7g.107915549A>TCA368856884DLDc.728A>T (p.Glu243Val)
c.*402A>T (n.*402A>T)
c.584A>T (p.Glu195Val)
c.659A>T (p.Glu220Val)
c.*471A>T (n.*471A>T)
c.431A>T (p.Glu144Val)
7g.107915550A=CA1732859320DLDc.729A= (p.Glu243=)
c.*403A= (n.*403A=)
c.585A= (p.Glu195=)
c.660A= (p.Glu220=)
c.*472A= (n.*472A=)
c.432A= (p.Glu144=)
7g.107915550A>CCA368856886DLDc.729A>C (p.Glu243Asp)
c.*403A>C (n.*403A>C)
c.585A>C (p.Glu195Asp)
c.660A>C (p.Glu220Asp)
c.*472A>C (n.*472A>C)
c.432A>C (p.Glu144Asp)
7g.107915550A>GCA457108745DLDc.729A>G (p.Glu243=)
c.*403A>G (n.*403A>G)
c.585A>G (p.Glu195=)
c.660A>G (p.Glu220=)
c.*472A>G (n.*472A>G)
c.432A>G (p.Glu144=)
ClinVar dbSNP gnomAD v4
7g.107915550A>TCA368856887DLDc.729A>T (p.Glu243Asp)
c.*403A>T (n.*403A>T)
c.585A>T (p.Glu195Asp)
c.660A>T (p.Glu220Asp)
c.*472A>T (n.*472A>T)
c.432A>T (p.Glu144Asp)
7g.107915551T>ACA368856890DLDc.730T>A (p.Phe244Ile)
c.*404T>A (n.*404T>A)
c.586T>A (p.Phe196Ile)
c.661T>A (p.Phe221Ile)
c.*473T>A (n.*473T>A)
c.433T>A (p.Phe145Ile)
7g.107915551T>CCA368856891DLDc.730T>C (p.Phe244Leu)
c.*404T>C (n.*404T>C)
c.586T>C (p.Phe196Leu)
c.661T>C (p.Phe221Leu)
c.*473T>C (n.*473T>C)
c.433T>C (p.Phe145Leu)
7g.107915551T>GCA368856893DLDc.730T>G (p.Phe244Val)
c.*404T>G (n.*404T>G)
c.586T>G (p.Phe196Val)
c.661T>G (p.Phe221Val)
c.*473T>G (n.*473T>G)
c.433T>G (p.Phe145Val)
gnomAD v4
7g.107915555delCA457108747DLDc.734del (p.Leu245Ter)
c.*408del (n.*408del)
c.590del (p.Leu197Ter)
c.665del (p.Leu222Ter)
c.*477del (n.*477del)
c.437del (p.Leu146Ter)
COSMIC COSMIC
7g.107915552T>ACA368856896DLDc.731T>A (p.Phe244Tyr)
c.*405T>A (n.*405T>A)
c.587T>A (p.Phe196Tyr)
c.662T>A (p.Phe221Tyr)
c.*474T>A (n.*474T>A)
c.434T>A (p.Phe145Tyr)
7g.107915552T>CCA368856897DLDc.731T>C (p.Phe244Ser)
c.*405T>C (n.*405T>C)
c.587T>C (p.Phe196Ser)
c.662T>C (p.Phe221Ser)
c.*474T>C (n.*474T>C)
c.434T>C (p.Phe145Ser)
7g.107915552T>GCA368856899DLDc.731T>G (p.Phe244Cys)
c.*405T>G (n.*405T>G)
c.587T>G (p.Phe196Cys)
c.662T>G (p.Phe221Cys)
c.*474T>G (n.*474T>G)
c.434T>G (p.Phe145Cys)
7g.107915553T>ACA368856901DLDc.732T>A (p.Phe244Leu)
c.*406T>A (n.*406T>A)
c.588T>A (p.Phe196Leu)
c.663T>A (p.Phe221Leu)
c.*475T>A (n.*475T>A)
c.435T>A (p.Phe145Leu)
7g.107915553T>CCA457108751DLDc.732T>C (p.Phe244=)
c.*406T>C (n.*406T>C)
c.588T>C (p.Phe196=)
c.663T>C (p.Phe221=)
c.*475T>C (n.*475T>C)
c.435T>C (p.Phe145=)
7g.107915553T>GCA368856903DLDc.732T>G (p.Phe244Leu)
c.*406T>G (n.*406T>G)
c.588T>G (p.Phe196Leu)
c.663T>G (p.Phe221Leu)
c.*475T>G (n.*475T>G)
c.435T>G (p.Phe145Leu)
7g.107915554T>ACA368856905DLDc.733T>A (p.Leu245Ile)
c.*407T>A (n.*407T>A)
c.589T>A (p.Leu197Ile)
c.664T>A (p.Leu222Ile)
c.*476T>A (n.*476T>A)
c.436T>A (p.Leu146Ile)
7g.107915554T>CCA457108752DLDc.733T>C (p.Leu245=)
c.*407T>C (n.*407T>C)
c.589T>C (p.Leu197=)
c.664T>C (p.Leu222=)
c.*476T>C (n.*476T>C)
c.436T>C (p.Leu146=)
7g.107915554T>GCA368856907DLDc.733T>G (p.Leu245Val)
c.*407T>G (n.*407T>G)
c.589T>G (p.Leu197Val)
c.664T>G (p.Leu222Val)
c.*476T>G (n.*476T>G)
c.436T>G (p.Leu146Val)
7g.107915555T>ACA368856909DLDc.734T>A (p.Leu245Ter)
c.*408T>A (n.*408T>A)
c.590T>A (p.Leu197Ter)
c.665T>A (p.Leu222Ter)
c.*477T>A (n.*477T>A)
c.437T>A (p.Leu146Ter)
7g.107915555T>CCA368856911DLDc.734T>C (p.Leu245Ser)
c.*408T>C (n.*408T>C)
c.590T>C (p.Leu197Ser)
c.665T>C (p.Leu222Ser)
c.*477T>C (n.*477T>C)
c.437T>C (p.Leu146Ser)
7g.107915555T>GCA368856913DLDc.734T>G (p.Leu245Ter)
c.*408T>G (n.*408T>G)
c.590T>G (p.Leu197Ter)
c.665T>G (p.Leu222Ter)
c.*477T>G (n.*477T>G)
c.437T>G (p.Leu146Ter)
7g.107915556A=CA1732859321DLDc.735A= (p.Leu245=)
c.*409A= (n.*409A=)
c.591A= (p.Leu197=)
c.666A= (p.Leu222=)
c.*478A= (n.*478A=)
c.438A= (p.Leu146=)
7g.107915556A>CCA368856915DLDc.735A>C (p.Leu245Phe)
c.*409A>C (n.*409A>C)
c.591A>C (p.Leu197Phe)
c.666A>C (p.Leu222Phe)
c.*478A>C (n.*478A>C)
c.438A>C (p.Leu146Phe)
7g.107915556A>GCA4434552DLDc.735A>G (p.Leu245=)
c.*409A>G (n.*409A>G)
c.591A>G (p.Leu197=)
c.666A>G (p.Leu222=)
c.*478A>G (n.*478A>G)
c.438A>G (p.Leu146=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.107915556A>TCA368856918DLDc.735A>T (p.Leu245Phe)
c.*409A>T (n.*409A>T)
c.591A>T (p.Leu197Phe)
c.666A>T (p.Leu222Phe)
c.*478A>T (n.*478A>T)
c.438A>T (p.Leu146Phe)
gnomAD v4
7g.107915557G>ACA368856923DLDc.736G>A (p.Gly246Ser)
c.*410G>A (n.*410G>A)
c.592G>A (p.Gly198Ser)
c.667G>A (p.Gly223Ser)
c.*479G>A (n.*479G>A)
c.439G>A (p.Gly147Ser)
7g.107915557G>CCA368856921DLDc.736G>C (p.Gly246Arg)
c.*410G>C (n.*410G>C)
c.592G>C (p.Gly198Arg)
c.667G>C (p.Gly223Arg)
c.*479G>C (n.*479G>C)
c.439G>C (p.Gly147Arg)
7g.107915557G>TCA368856920DLDc.736G>T (p.Gly246Cys)
c.*410G>T (n.*410G>T)
c.592G>T (p.Gly198Cys)
c.667G>T (p.Gly223Cys)
c.*479G>T (n.*479G>T)
c.439G>T (p.Gly147Cys)
gnomAD v4
7g.107915558delCA2695199604DLDc.737del (p.Gly246ValfsTer3)
c.*411del (n.*411del)
c.593del (p.Gly198ValfsTer3)
c.668del (p.Gly223ValfsTer3)
c.*480del (n.*480del)
c.440del (p.Gly147ValfsTer3)
ClinVar
7g.107915558G>ACA368856925DLDc.737G>A (p.Gly246Asp)
c.*411G>A (n.*411G>A)
c.593G>A (p.Gly198Asp)
c.668G>A (p.Gly223Asp)
c.*480G>A (n.*480G>A)
c.440G>A (p.Gly147Asp)
dbSNP gnomAD v4
7g.107915558G>CCA368856927DLDc.737G>C (p.Gly246Ala)
c.*411G>C (n.*411G>C)
c.593G>C (p.Gly198Ala)
c.668G>C (p.Gly223Ala)
c.*480G>C (n.*480G>C)
c.440G>C (p.Gly147Ala)
COSMIC COSMIC
7g.107915558G=CA1732859322DLDc.737G= (p.Gly246=)
c.*411G= (n.*411G=)
c.593G= (p.Gly198=)
c.668G= (p.Gly223=)
c.*480G= (n.*480G=)
c.440G= (p.Gly147=)
7g.107915558G>TCA368856929DLDc.737G>T (p.Gly246Val)
c.*411G>T (n.*411G>T)
c.593G>T (p.Gly198Val)
c.668G>T (p.Gly223Val)
c.*480G>T (n.*480G>T)
c.440G>T (p.Gly147Val)
7g.107915559T>ACA457108757DLDc.738T>A (p.Gly246=)
c.*412T>A (n.*412T>A)
c.594T>A (p.Gly198=)
c.669T>A (p.Gly223=)
c.*481T>A (n.*481T>A)
c.441T>A (p.Gly147=)
7g.107915559T>CCA457108758DLDc.738T>C (p.Gly246=)
c.*412T>C (n.*412T>C)
c.594T>C (p.Gly198=)
c.669T>C (p.Gly223=)
c.*481T>C (n.*481T>C)
c.441T>C (p.Gly147=)
7g.107915559T>GCA457108759DLDc.738T>G (p.Gly246=)
c.*412T>G (n.*412T>G)
c.594T>G (p.Gly198=)
c.669T>G (p.Gly223=)
c.*481T>G (n.*481T>G)
c.441T>G (p.Gly147=)
gnomAD v4
7g.107915560C>ACA368856930DLDc.739C>A (p.His247Asn)
c.*413C>A (n.*413C>A)
c.595C>A (p.His199Asn)
c.670C>A (p.His224Asn)
c.*482C>A (n.*482C>A)
c.442C>A (p.His148Asn)
gnomAD v4
7g.107915560C>GCA368856931DLDc.739C>G (p.His247Asp)
c.*413C>G (n.*413C>G)
c.595C>G (p.His199Asp)
c.670C>G (p.His224Asp)
c.*482C>G (n.*482C>G)
c.442C>G (p.His148Asp)
7g.107915560C>TCA368856933DLDc.739C>T (p.His247Tyr)
c.*413C>T (n.*413C>T)
c.595C>T (p.His199Tyr)
c.670C>T (p.His224Tyr)
c.*482C>T (n.*482C>T)
c.442C>T (p.His148Tyr)
7g.107915561A=CA1732859323DLDc.740A= (p.His247=)
c.*414A= (n.*414A=)
c.596A= (p.His199=)
c.671A= (p.His224=)
c.*483A= (n.*483A=)
c.443A= (p.His148=)
7g.107915561A>CCA368856935DLDc.740A>C (p.His247Pro)
c.*414A>C (n.*414A>C)
c.596A>C (p.His199Pro)
c.671A>C (p.His224Pro)
c.*483A>C (n.*483A>C)
c.443A>C (p.His148Pro)
7g.107915561A>GCA368856939DLDc.740A>G (p.His247Arg)
c.*414A>G (n.*414A>G)
c.596A>G (p.His199Arg)
c.671A>G (p.His224Arg)
c.*483A>G (n.*483A>G)
c.443A>G (p.His148Arg)
dbSNP gnomAD v2 gnomAD v4
7g.107915561A>TCA368856937DLDc.740A>T (p.His247Leu)
c.*414A>T (n.*414A>T)
c.596A>T (p.His199Leu)
c.671A>T (p.His224Leu)
c.*483A>T (n.*483A>T)
c.443A>T (p.His148Leu)
7g.107915562T>ACA368856941DLDc.741T>A (p.His247Gln)
c.*415T>A (n.*415T>A)
c.597T>A (p.His199Gln)
c.672T>A (p.His224Gln)
c.*484T>A (n.*484T>A)
c.444T>A (p.His148Gln)
7g.107915562T>CCA4434553DLDc.741T>C (p.His247=)
c.*415T>C (n.*415T>C)
c.597T>C (p.His199=)
c.672T>C (p.His224=)
c.*484T>C (n.*484T>C)
c.444T>C (p.His148=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.107915562T>GCA368856943DLDc.741T>G (p.His247Gln)
c.*415T>G (n.*415T>G)
c.597T>G (p.His199Gln)
c.672T>G (p.His224Gln)
c.*484T>G (n.*484T>G)
c.444T>G (p.His148Gln)
7g.107915562T=CA1732859324DLDc.741T= (p.His247=)
c.*415T= (n.*415T=)
c.597T= (p.His199=)
c.672T= (p.His224=)
c.*484T= (n.*484T=)
c.444T= (p.His148=)
7g.107915563G>ACA4434554DLDc.742G>A (p.Val248Ile)
c.*416G>A (n.*416G>A)
c.598G>A (p.Val200Ile)
c.673G>A (p.Val225Ile)
c.*485G>A (n.*485G>A)
c.445G>A (p.Val149Ile)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.107915563G>CCA368856946DLDc.742G>C (p.Val248Leu)
c.*416G>C (n.*416G>C)
c.598G>C (p.Val200Leu)
c.673G>C (p.Val225Leu)
c.*485G>C (n.*485G>C)
c.445G>C (p.Val149Leu)
7g.107915563G=CA1732859325DLDc.742G= (p.Val248=)
c.*416G= (n.*416G=)
c.598G= (p.Val200=)
c.673G= (p.Val225=)
c.*485G= (n.*485G=)
c.445G= (p.Val149=)
7g.107915563G>TCA368856948DLDc.742G>T (p.Val248Leu)
c.*416G>T (n.*416G>T)
c.598G>T (p.Val200Leu)
c.673G>T (p.Val225Leu)
c.*485G>T (n.*485G>T)
c.445G>T (p.Val149Leu)
gnomAD v4
7g.107915564T>ACA368856950DLDc.743T>A (p.Val248Glu)
c.*417T>A (n.*417T>A)
c.599T>A (p.Val200Glu)
c.674T>A (p.Val225Glu)
c.*486T>A (n.*486T>A)
c.446T>A (p.Val149Glu)
7g.107915564T>CCA368856952DLDc.743T>C (p.Val248Ala)
c.*417T>C (n.*417T>C)
c.599T>C (p.Val200Ala)
c.674T>C (p.Val225Ala)
c.*486T>C (n.*486T>C)
c.446T>C (p.Val149Ala)
7g.107915564T>GCA368856953DLDc.743T>G (p.Val248Gly)
c.*417T>G (n.*417T>G)
c.599T>G (p.Val200Gly)
c.674T>G (p.Val225Gly)
c.*486T>G (n.*486T>G)
c.446T>G (p.Val149Gly)
7g.107915565A=CA1732859326DLDc.744A= (p.Val248=)
c.*418A= (n.*418A=)
c.600A= (p.Val200=)
c.675A= (p.Val225=)
c.*487A= (n.*487A=)
c.447A= (p.Val149=)
7g.107915565A>CCA457108763DLDc.744A>C (p.Val248=)
c.*418A>C (n.*418A>C)
c.600A>C (p.Val200=)
c.675A>C (p.Val225=)
c.*487A>C (n.*487A>C)
c.447A>C (p.Val149=)
7g.107915565A>GCA457108764DLDc.744A>G (p.Val248=)
c.*418A>G (n.*418A>G)
c.600A>G (p.Val200=)
c.675A>G (p.Val225=)
c.*487A>G (n.*487A>G)
c.447A>G (p.Val149=)
ClinVar dbSNP gnomAD v2 gnomAD v4
7g.107915565A>TCA457108765DLDc.744A>T (p.Val248=)
c.*418A>T (n.*418A>T)
c.600A>T (p.Val200=)
c.675A>T (p.Val225=)
c.*487A>T (n.*487A>T)
c.447A>T (p.Val149=)
7g.107915566G>ACA368856956DLDc.745G>A (p.Gly249Ser)
c.*419G>A (n.*419G>A)
c.601G>A (p.Gly201Ser)
c.676G>A (p.Gly226Ser)
c.*488G>A (n.*488G>A)
c.448G>A (p.Gly150Ser)
gnomAD v4
7g.107915566G>CCA368856957DLDc.745G>C (p.Gly249Arg)
c.*419G>C (n.*419G>C)
c.601G>C (p.Gly201Arg)
c.676G>C (p.Gly226Arg)
c.*488G>C (n.*488G>C)
c.448G>C (p.Gly150Arg)
7g.107915566G>TCA368856959DLDc.745G>T (p.Gly249Cys)
c.*419G>T (n.*419G>T)
c.601G>T (p.Gly201Cys)
c.676G>T (p.Gly226Cys)
c.*488G>T (n.*488G>T)
c.448G>T (p.Gly150Cys)
7g.107915567G>ACA368856961DLDc.746G>A (p.Gly249Asp)
c.*420G>A (n.*420G>A)
c.602G>A (p.Gly201Asp)
c.677G>A (p.Gly226Asp)
c.*489G>A (n.*489G>A)
c.449G>A (p.Gly150Asp)
dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
7g.107915567G>CCA368856964DLDc.746G>C (p.Gly249Ala)
c.*420G>C (n.*420G>C)
c.602G>C (p.Gly201Ala)
c.677G>C (p.Gly226Ala)
c.*489G>C (n.*489G>C)
c.449G>C (p.Gly150Ala)
7g.107915567G=CA1732859327DLDc.746G= (p.Gly249=)
c.*420G= (n.*420G=)
c.602G= (p.Gly201=)
c.677G= (p.Gly226=)
c.*489G= (n.*489G=)
c.449G= (p.Gly150=)
7g.107915567G>TCA368856963DLDc.746G>T (p.Gly249Val)
c.*420G>T (n.*420G>T)
c.602G>T (p.Gly201Val)
c.677G>T (p.Gly226Val)
c.*489G>T (n.*489G>T)
c.449G>T (p.Gly150Val)
7g.107915568T>ACA457108769DLDc.747T>A (p.Gly249=)
c.*421T>A (n.*421T>A)
c.603T>A (p.Gly201=)
c.678T>A (p.Gly226=)
c.*490T>A (n.*490T>A)
c.450T>A (p.Gly150=)
7g.107915568T>CCA457108770DLDc.747T>C (p.Gly249=)
c.*421T>C (n.*421T>C)
c.603T>C (p.Gly201=)
c.678T>C (p.Gly226=)
c.*490T>C (n.*490T>C)
c.450T>C (p.Gly150=)
7g.107915568T>GCA457108771DLDc.747T>G (p.Gly249=)
c.*421T>G (n.*421T>G)
c.603T>G (p.Gly201=)
c.678T>G (p.Gly226=)
c.*490T>G (n.*490T>G)
c.450T>G (p.Gly150=)
7g.107915569G>ACA368856966DLDc.748G>A (p.Gly250Arg)
c.*422G>A (n.*422G>A)
c.604G>A (p.Gly202Arg)
c.679G>A (p.Gly227Arg)
c.*491G>A (n.*491G>A)
c.451G>A (p.Gly151Arg)
7g.107915569G>CCA368856968DLDc.748G>C (p.Gly250Arg)
c.*422G>C (n.*422G>C)
c.604G>C (p.Gly202Arg)
c.679G>C (p.Gly227Arg)
c.*491G>C (n.*491G>C)
c.451G>C (p.Gly151Arg)
7g.107915569G=CA1732859328DLDc.748G= (p.Gly250=)
c.*422G= (n.*422G=)
c.604G= (p.Gly202=)
c.679G= (p.Gly227=)
c.*491G= (n.*491G=)
c.451G= (p.Gly151=)
7g.107915569G>TCA368856970DLDc.748G>T (p.Gly250Ter)
c.*422G>T (n.*422G>T)
c.604G>T (p.Gly202Ter)
c.679G>T (p.Gly227Ter)
c.*491G>T (n.*491G>T)
c.451G>T (p.Gly151Ter)
ClinVar dbSNP
7g.107915570G>ACA368856972DLDc.749G>A (p.Gly250Glu)
c.*423G>A (n.*423G>A)
c.605G>A (p.Gly202Glu)
c.680G>A (p.Gly227Glu)
c.*492G>A (n.*492G>A)
c.452G>A (p.Gly151Glu)
7g.107915570G>CCA368856974DLDc.749G>C (p.Gly250Ala)
c.*423G>C (n.*423G>C)
c.605G>C (p.Gly202Ala)
c.680G>C (p.Gly227Ala)
c.*492G>C (n.*492G>C)
c.452G>C (p.Gly151Ala)
7g.107915570G>TCA368856976DLDc.749G>T (p.Gly250Val)
c.*423G>T (n.*423G>T)
c.605G>T (p.Gly202Val)
c.680G>T (p.Gly227Val)
c.*492G>T (n.*492G>T)
c.452G>T (p.Gly151Val)
7g.107915571A>CCA457108774DLDc.750A>C (p.Gly250=)
c.*424A>C (n.*424A>C)
c.606A>C (p.Gly202=)
c.681A>C (p.Gly227=)
c.*493A>C (n.*493A>C)
c.453A>C (p.Gly151=)
7g.107915571A>GCA457108775DLDc.750A>G (p.Gly250=)
c.*424A>G (n.*424A>G)
c.606A>G (p.Gly202=)
c.681A>G (p.Gly227=)
c.*493A>G (n.*493A>G)
c.453A>G (p.Gly151=)
7g.107915571A>TCA457108777DLDc.750A>T (p.Gly250=)
c.*424A>T (n.*424A>T)
c.606A>T (p.Gly202=)
c.681A>T (p.Gly227=)
c.*493A>T (n.*493A>T)
c.453A>T (p.Gly151=)
7g.107915572G>ACA368856978DLDc.751G>A (p.Val251Ile)
c.*425G>A (n.*425G>A)
c.607G>A (p.Val203Ile)
c.682G>A (p.Val228Ile)
c.*494G>A (n.*494G>A)
c.454G>A (p.Val152Ile)
7g.107915572G>CCA368856980DLDc.751G>C (p.Val251Leu)
c.*425G>C (n.*425G>C)
c.607G>C (p.Val203Leu)
c.682G>C (p.Val228Leu)
c.*494G>C (n.*494G>C)
c.454G>C (p.Val152Leu)
7g.107915572G>TCA368856982DLDc.751G>T (p.Val251Phe)
c.*425G>T (n.*425G>T)
c.607G>T (p.Val203Phe)
c.682G>T (p.Val228Phe)
c.*494G>T (n.*494G>T)
c.454G>T (p.Val152Phe)
7g.107915573T>ACA368856983DLDc.752T>A (p.Val251Asp)
c.*426T>A (n.*426T>A)
c.608T>A (p.Val203Asp)
c.683T>A (p.Val228Asp)
c.*495T>A (n.*495T>A)
c.455T>A (p.Val152Asp)
7g.107915573T>CCA368856985DLDc.752T>C (p.Val251Ala)
c.*426T>C (n.*426T>C)
c.608T>C (p.Val203Ala)
c.683T>C (p.Val228Ala)
c.*495T>C (n.*495T>C)
c.455T>C (p.Val152Ala)
7g.107915573T>GCA4434555DLDc.752T>G (p.Val251Gly)
c.*426T>G (n.*426T>G)
c.608T>G (p.Val203Gly)
c.683T>G (p.Val228Gly)
c.*495T>G (n.*495T>G)
c.455T>G (p.Val152Gly)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.107915573T=CA1732859329DLDc.752T= (p.Val251=)
c.*426T= (n.*426T=)
c.608T= (p.Val203=)
c.683T= (p.Val228=)
c.*495T= (n.*495T=)
c.455T= (p.Val152=)
7g.107915574T>ACA457108778DLDc.753T>A (p.Val251=)
c.*427T>A (n.*427T>A)
c.609T>A (p.Val203=)
c.684T>A (p.Val228=)
c.*496T>A (n.*496T>A)
c.456T>A (p.Val152=)
7g.107915574T>CCA457108779DLDc.753T>C (p.Val251=)
c.*427T>C (n.*427T>C)
c.609T>C (p.Val203=)
c.684T>C (p.Val228=)
c.*496T>C (n.*496T>C)
c.456T>C (p.Val152=)
7g.107915574T>GCA457108780DLDc.753T>G (p.Val251=)
c.*427T>G (n.*427T>G)
c.609T>G (p.Val203=)
c.684T>G (p.Val228=)
c.*496T>G (n.*496T>G)
c.456T>G (p.Val152=)
7g.107915575G>ACA368856990DLDc.754G>A (p.Gly252Arg)
c.*428G>A (n.*428G>A)
c.610G>A (p.Gly204Arg)
c.685G>A (p.Gly229Arg)
c.*497G>A (n.*497G>A)
c.457G>A (p.Gly153Arg)
7g.107915575G>CCA368856989DLDc.754G>C (p.Gly252Arg)
c.*428G>C (n.*428G>C)
c.610G>C (p.Gly204Arg)
c.685G>C (p.Gly229Arg)
c.*497G>C (n.*497G>C)
c.457G>C (p.Gly153Arg)
7g.107915575G>TCA368856988DLDc.754G>T (p.Gly252Ter)
c.*428G>T (n.*428G>T)
c.610G>T (p.Gly204Ter)
c.685G>T (p.Gly229Ter)
c.*497G>T (n.*497G>T)
c.457G>T (p.Gly153Ter)
7g.107915575_107915576delinsAACA645541917DLDc.754_755delinsAA (p.Gly252Lys)
c.*428_*429delinsAA (n.*428_*429delinsAA)
c.610_611delinsAA (p.Gly204Lys)
c.685_686delinsAA (p.Gly229Lys)
c.*497_*498delinsAA (n.*497_*498delinsAA)
c.457_458delinsAA (p.Gly153Lys)
COSMIC COSMIC
7g.107915576G>ACA368856992DLDc.755G>A (p.Gly252Glu)
c.*429G>A (n.*429G>A)
c.611G>A (p.Gly204Glu)
c.686G>A (p.Gly229Glu)
c.*498G>A (n.*498G>A)
c.458G>A (p.Gly153Glu)
dbSNP
7g.107915576G>CCA368856994DLDc.755G>C (p.Gly252Ala)
c.*429G>C (n.*429G>C)
c.611G>C (p.Gly204Ala)
c.686G>C (p.Gly229Ala)
c.*498G>C (n.*498G>C)
c.458G>C (p.Gly153Ala)
7g.107915576G=CA1732859330DLDc.755G= (p.Gly252=)
c.*429G= (n.*429G=)
c.611G= (p.Gly204=)
c.686G= (p.Gly229=)
c.*498G= (n.*498G=)
c.458G= (p.Gly153=)
7g.107915576G>TCA368856996DLDc.755G>T (p.Gly252Val)
c.*429G>T (n.*429G>T)
c.611G>T (p.Gly204Val)
c.686G>T (p.Gly229Val)
c.*498G>T (n.*498G>T)
c.458G>T (p.Gly153Val)
7g.107915577A>CCA457108783DLDc.756A>C (p.Gly252=)
c.*430A>C (n.*430A>C)
c.612A>C (p.Gly204=)
c.687A>C (p.Gly229=)
c.*499A>C (n.*499A>C)
c.459A>C (p.Gly153=)
7g.107915577A>GCA457108784DLDc.756A>G (p.Gly252=)
c.*430A>G (n.*430A>G)
c.612A>G (p.Gly204=)
c.687A>G (p.Gly229=)
c.*499A>G (n.*499A>G)
c.459A>G (p.Gly153=)
7g.107915577A>TCA457108782DLDc.756A>T (p.Gly252=)
c.*430A>T (n.*430A>T)
c.612A>T (p.Gly204=)
c.687A>T (p.Gly229=)
c.*499A>T (n.*499A>T)
c.459A>T (p.Gly153=)
7g.107915578A>CCA368856998DLDc.757A>C (p.Ile253Leu)
c.*431A>C (n.*431A>C)
c.613A>C (p.Ile205Leu)
c.688A>C (p.Ile230Leu)
c.*500A>C (n.*500A>C)
c.460A>C (p.Ile154Leu)
7g.107915578A>GCA368856999DLDc.757A>G (p.Ile253Val)
c.*431A>G (n.*431A>G)
c.613A>G (p.Ile205Val)
c.688A>G (p.Ile230Val)
c.*500A>G (n.*500A>G)
c.460A>G (p.Ile154Val)
7g.107915578A>TCA368857001DLDc.757A>T (p.Ile253Phe)
c.*431A>T (n.*431A>T)
c.613A>T (p.Ile205Phe)
c.688A>T (p.Ile230Phe)
c.*500A>T (n.*500A>T)
c.460A>T (p.Ile154Phe)
7g.107915579T>ACA368857004DLDc.758T>A (p.Ile253Asn)
c.*432T>A (n.*432T>A)
c.614T>A (p.Ile205Asn)
c.689T>A (p.Ile230Asn)
c.*501T>A (n.*501T>A)
c.461T>A (p.Ile154Asn)
7g.107915579T>CCA368857005DLDc.758T>C (p.Ile253Thr)
c.*432T>C (n.*432T>C)
c.614T>C (p.Ile205Thr)
c.689T>C (p.Ile230Thr)
c.*501T>C (n.*501T>C)
c.461T>C (p.Ile154Thr)
7g.107915579T>GCA368857007DLDc.758T>G (p.Ile253Ser)
c.*432T>G (n.*432T>G)
c.614T>G (p.Ile205Ser)
c.689T>G (p.Ile230Ser)
c.*501T>G (n.*501T>G)
c.461T>G (p.Ile154Ser)
7g.107915580T>ACA457108786DLDc.759T>A (p.Ile253=)
c.*433T>A (n.*433T>A)
c.615T>A (p.Ile205=)
c.690T>A (p.Ile230=)
c.*502T>A (n.*502T>A)
c.462T>A (p.Ile154=)
7g.107915580T>CCA457108785DLDc.759T>C (p.Ile253=)
c.*433T>C (n.*433T>C)
c.615T>C (p.Ile205=)
c.690T>C (p.Ile230=)
c.*502T>C (n.*502T>C)
c.462T>C (p.Ile154=)
7g.107915580T>GCA368857009DLDc.759T>G (p.Ile253Met)
c.*433T>G (n.*433T>G)
c.615T>G (p.Ile205Met)
c.690T>G (p.Ile230Met)
c.*502T>G (n.*502T>G)
c.462T>G (p.Ile154Met)
7g.107915581G>ACA368857011DLDc.760G>A (p.Asp254Asn)
c.*434G>A (n.*434G>A)
c.616G>A (p.Asp206Asn)
c.691G>A (p.Asp231Asn)
c.*503G>A (n.*503G>A)
c.463G>A (p.Asp155Asn)
COSMIC COSMIC
7g.107915581G>CCA368857013DLDc.760G>C (p.Asp254His)
c.*434G>C (n.*434G>C)
c.616G>C (p.Asp206His)
c.691G>C (p.Asp231His)
c.*503G>C (n.*503G>C)
c.463G>C (p.Asp155His)
7g.107915581G>TCA368857015DLDc.760G>T (p.Asp254Tyr)
c.*434G>T (n.*434G>T)
c.616G>T (p.Asp206Tyr)
c.691G>T (p.Asp231Tyr)
c.*503G>T (n.*503G>T)
c.463G>T (p.Asp155Tyr)
7g.107915582A>CCA368857018DLDc.761A>C (p.Asp254Ala)
c.*435A>C (n.*435A>C)
c.617A>C (p.Asp206Ala)
c.692A>C (p.Asp231Ala)
c.*504A>C (n.*504A>C)
c.464A>C (p.Asp155Ala)
7g.107915582A>GCA368857019DLDc.761A>G (p.Asp254Gly)
c.*435A>G (n.*435A>G)
c.617A>G (p.Asp206Gly)
c.692A>G (p.Asp231Gly)
c.*504A>G (n.*504A>G)
c.464A>G (p.Asp155Gly)
7g.107915582A>TCA368857017DLDc.761A>T (p.Asp254Val)
c.*435A>T (n.*435A>T)
c.617A>T (p.Asp206Val)
c.692A>T (p.Asp231Val)
c.*504A>T (n.*504A>T)
c.464A>T (p.Asp155Val)
gnomAD v4
7g.107915584_107915585delCA2684464842DLDc.763_764del (p.Met255GlyfsTer4)
c.*437_*438del (n.*437_*438del)
c.619_620del (p.Met207GlyfsTer4)
c.694_695del (p.Met232GlyfsTer4)
c.*506_*507del (n.*506_*507del)
c.466_467del (p.Met156GlyfsTer4)
gnomAD v4
7g.107915583T>ACA368857023DLDc.762T>A (p.Asp254Glu)
c.*436T>A (n.*436T>A)
c.618T>A (p.Asp206Glu)
c.693T>A (p.Asp231Glu)
c.*505T>A (n.*505T>A)
c.465T>A (p.Asp155Glu)
7g.107915583T>CCA457108790DLDc.762T>C (p.Asp254=)
c.*436T>C (n.*436T>C)
c.618T>C (p.Asp206=)
c.693T>C (p.Asp231=)
c.*505T>C (n.*505T>C)
c.465T>C (p.Asp155=)
7g.107915583T>GCA368857021DLDc.762T>G (p.Asp254Glu)
c.*436T>G (n.*436T>G)
c.618T>G (p.Asp206Glu)
c.693T>G (p.Asp231Glu)
c.*505T>G (n.*505T>G)
c.465T>G (p.Asp155Glu)
7g.107915584A=CA1732859331DLDc.763A= (p.Met255=)
c.*437A= (n.*437A=)
c.619A= (p.Met207=)
c.694A= (p.Met232=)
c.*506A= (n.*506A=)
c.466A= (p.Met156=)
7g.107915584A>CCA312464DLDc.763A>C (p.Met255Leu)
c.*437A>C (n.*437A>C)
c.619A>C (p.Met207Leu)
c.694A>C (p.Met232Leu)
c.*506A>C (n.*506A>C)
c.466A>C (p.Met156Leu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.107915584A>GCA368857025DLDc.763A>G (p.Met255Val)
c.*437A>G (n.*437A>G)
c.619A>G (p.Met207Val)
c.694A>G (p.Met232Val)
c.*506A>G (n.*506A>G)
c.466A>G (p.Met156Val)
7g.107915584A>TCA164257674DLDc.763A>T (p.Met255Leu)
c.*437A>T (n.*437A>T)
c.619A>T (p.Met207Leu)
c.694A>T (p.Met232Leu)
c.*506A>T (n.*506A>T)
c.466A>T (p.Met156Leu)
dbSNP gnomAD v3 gnomAD v4
7g.107915585T>ACA368857029DLDc.764T>A (p.Met255Lys)
c.*438T>A (n.*438T>A)
c.620T>A (p.Met207Lys)
c.695T>A (p.Met232Lys)
c.*507T>A (n.*507T>A)
c.467T>A (p.Met156Lys)
7g.107915585T>CCA164257687DLDc.764T>C (p.Met255Thr)
c.*438T>C (n.*438T>C)
c.620T>C (p.Met207Thr)
c.695T>C (p.Met232Thr)
c.*507T>C (n.*507T>C)
c.467T>C (p.Met156Thr)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.107915585T>GCA368857032DLDc.764T>G (p.Met255Arg)
c.*438T>G (n.*438T>G)
c.620T>G (p.Met207Arg)
c.695T>G (p.Met232Arg)
c.*507T>G (n.*507T>G)
c.467T>G (p.Met156Arg)
gnomAD v4
7g.107915585T=CA1732859332DLDc.764T= (p.Met255=)
c.*438T= (n.*438T=)
c.620T= (p.Met207=)
c.695T= (p.Met232=)
c.*507T= (n.*507T=)
c.467T= (p.Met156=)
7g.107915586G>ACA368857034DLDc.765G>A (p.Met255Ile)
c.*439G>A (n.*439G>A)
c.621G>A (p.Met207Ile)
c.696G>A (p.Met232Ile)
c.*508G>A (n.*508G>A)
c.468G>A (p.Met156Ile)
ClinVar
7g.107915586G>CCA368857037DLDc.765G>C (p.Met255Ile)
c.*439G>C (n.*439G>C)
c.621G>C (p.Met207Ile)
c.696G>C (p.Met232Ile)
c.*508G>C (n.*508G>C)
c.468G>C (p.Met156Ile)
7g.107915586G>TCA368857038DLDc.765G>T (p.Met255Ile)
c.*439G>T (n.*439G>T)
c.621G>T (p.Met207Ile)
c.696G>T (p.Met232Ile)
c.*508G>T (n.*508G>T)
c.468G>T (p.Met156Ile)
7g.107915587G>ACA368857041DLDc.766G>A (p.Glu256Lys)
c.*440G>A (n.*440G>A)
c.622G>A (p.Glu208Lys)
c.697G>A (p.Glu233Lys)
c.*509G>A (n.*509G>A)
c.469G>A (p.Glu157Lys)
7g.107915587G>CCA368857042DLDc.766G>C (p.Glu256Gln)
c.*440G>C (n.*440G>C)
c.622G>C (p.Glu208Gln)
c.697G>C (p.Glu233Gln)
c.*509G>C (n.*509G>C)
c.469G>C (p.Glu157Gln)
7g.107915587G>TCA368857043DLDc.766G>T (p.Glu256Ter)
c.*440G>T (n.*440G>T)
c.622G>T (p.Glu208Ter)
c.697G>T (p.Glu233Ter)
c.*509G>T (n.*509G>T)
c.469G>T (p.Glu157Ter)
7g.107915588A=CA1732859333DLDc.767A= (p.Glu256=)
c.*441A= (n.*441A=)
c.623A= (p.Glu208=)
c.698A= (p.Glu233=)
c.*510A= (n.*510A=)
c.470A= (p.Glu157=)
7g.107915588A>CCA368857044DLDc.767A>C (p.Glu256Ala)
c.*441A>C (n.*441A>C)
c.623A>C (p.Glu208Ala)
c.698A>C (p.Glu233Ala)
c.*510A>C (n.*510A>C)
c.470A>C (p.Glu157Ala)
7g.107915588A>GCA368857045DLDc.767A>G (p.Glu256Gly)
c.*441A>G (n.*441A>G)
c.623A>G (p.Glu208Gly)
c.698A>G (p.Glu233Gly)
c.*510A>G (n.*510A>G)
c.470A>G (p.Glu157Gly)
7g.107915588A>TCA368857046DLDc.767A>T (p.Glu256Val)
c.*441A>T (n.*441A>T)
c.623A>T (p.Glu208Val)
c.698A>T (p.Glu233Val)
c.*510A>T (n.*510A>T)
c.470A>T (p.Glu157Val)
dbSNP gnomAD v2 gnomAD v4

Number of alleles fetched