Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.107915485_107915489delinsGTTTT | CA1732859293 | DLD | c.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) | |
7 | g.107915492dup | CA4434542 | DLD | c.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 |
7 | g.107915491_107915492dup | CA1105644152 | DLD | c.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 |
7 | g.107915492del | CA4434541 | DLD | c.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 |
7 | g.107915490_107915492del | CA577039183 | DLD | c.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 |
7 | g.107915489_107915492del | CA577039182 | DLD | c.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 |
7 | g.107915491T>G | CA2578990155 | DLD | c.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) | |
7 | g.107915491_107915494delinsTTAA | CA1732859298 | DLD | c.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) | |
7 | g.107915492T>A | CA290607 | DLD | c.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 |
7 | g.107915492T>C | CA2739279476 | DLD | c.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 |
7 | g.107915492T= | CA1732859299 | DLD | c.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=) | |
7 | g.107915493_107915495del | CA4434546 | DLD | c.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 |
7 | g.107915493A>C | CA2684464712 | DLD | c.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 |
7 | g.107915493A>G | CA2684464714 | DLD | c.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 |
7 | g.107915493_107915497delinsAATTT | CA1732859300 | DLD | c.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) | |
7 | g.107915498_107915501del | CA1105644163 | DLD | c.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 |
7 | g.107915495T>A | CA2715483562 | DLD | c.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 |
7 | g.107915497del | CA2684464718 | DLD | c.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 |
7 | g.107915497_107915501del | CA2697557534 | DLD | c.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 |
7 | g.107915496T>G | CA1732859301 | DLD | c.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 |
7 | g.107915496T= | CA1732859302 | DLD | c.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=) | |
7 | g.107915501T>C | CA4434547 | DLD | c.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 |
7 | g.107915501T= | CA1732859303 | DLD | c.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=) | |
7 | g.107915502G>A | CA2499218652 | DLD | c.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 |
7 | g.107915502G= | CA1732859304 | DLD | c.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=) | |
7 | g.107915502G>T | CA1732859305 | DLD | c.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 |
7 | g.107915504A>C | CA368856702 | DLD | c.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) | |
7 | g.107915504A>G | CA368856703 | DLD | c.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) | |
7 | g.107915504A>T | CA368856704 | DLD | c.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) | |
7 | g.107915505G>A | CA368856705 | DLD | c.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) | |
7 | g.107915505G>C | CA368856706 | DLD | c.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) | |
7 | g.107915505G>T | CA368856707 | DLD | c.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) | |
7 | g.107915506G>A | CA368856708 | DLD | c.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 |
7 | g.107915506G>C | CA368856709 | DLD | c.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 |
7 | g.107915506G= | CA1732859306 | DLD | c.685G= (p.Gly229=) c.*359G= (n.*359G=) c.541G= (p.Gly181=) c.616G= (p.Gly206=) c.*428G= (n.*428G=) c.388G= (p.Gly130=) | |
7 | g.107915506G>T | CA312461 | DLD | c.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 |
7 | g.107915507G>A | CA368856710 | DLD | c.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) | |
7 | g.107915507G>C | CA368856712 | DLD | c.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) | |
7 | g.107915507G>T | CA368856711 | DLD | c.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 |
7 | g.107915508T>A | CA457108672 | DLD | c.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=) | |
7 | g.107915508T>C | CA4434548 | DLD | c.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 |
7 | g.107915508T>G | CA457108674 | DLD | c.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=) | |
7 | g.107915508T= | CA1732859307 | DLD | c.687T= (p.Gly229=) c.*361T= (n.*361T=) c.543T= (p.Gly181=) c.618T= (p.Gly206=) c.*430T= (n.*430T=) c.390T= (p.Gly130=) | |
7 | g.107915509T>A | CA368856713 | DLD | c.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) | |
7 | g.107915509T>C | CA368856714 | DLD | c.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) | |
7 | g.107915509T>G | CA368856715 | DLD | c.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) | |
7 | g.107915510C>A | CA368856716 | DLD | c.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) | |
7 | g.107915510C>G | CA368856717 | DLD | c.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) | |
7 | g.107915510C>T | CA368856718 | DLD | c.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) | |
7 | g.107915511A>C | CA457108677 | DLD | c.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=) | |
7 | g.107915511A>G | CA457108678 | DLD | c.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=) | |
7 | g.107915511A>T | CA457108679 | DLD | c.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=) | |
7 | g.107915512G>A | CA368856719 | DLD | c.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) | |
7 | g.107915512G>C | CA368856721 | DLD | c.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) | |
7 | g.107915512G>T | CA368856723 | DLD | c.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) | |
7 | g.107915513T>A | CA368856726 | DLD | c.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) | |
7 | g.107915513T>C | CA368856728 | DLD | c.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) | |
7 | g.107915513T>G | CA368856725 | DLD | c.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) | |
7 | g.107915515del | CA2578990156 | DLD | c.694del (p.Trp232GlyfsTer8) c.*368del (n.*368del) c.550del (p.Trp184GlyfsTer8) c.625del (p.Trp209GlyfsTer8) c.*437del (n.*437del) c.397del (p.Trp133GlyfsTer8) | |
7 | g.107915514T>A | CA457108681 | DLD | c.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=) | |
7 | g.107915514T>C | CA457108683 | DLD | c.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=) | |
7 | g.107915514T>G | CA457108684 | DLD | c.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=) | |
7 | g.107915515T>A | CA368856730 | DLD | c.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) | |
7 | g.107915515T>C | CA368856732 | DLD | c.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) | |
7 | g.107915515T>G | CA368856733 | DLD | c.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) | |
7 | g.107915516G>A | CA368856734 | DLD | c.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) | |
7 | g.107915516G>C | CA368856735 | DLD | c.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) | |
7 | g.107915516G>T | CA368856737 | DLD | c.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) | |
7 | g.107915517G>A | CA368856739 | DLD | c.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 |
7 | g.107915517G>C | CA368856741 | DLD | c.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) | |
7 | g.107915517G>T | CA368856743 | DLD | c.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) | |
7 | g.107915518C>A | CA368856745 | DLD | c.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) | |
7 | g.107915518C>G | CA368856747 | DLD | c.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) | |
7 | g.107915518C>T | CA368856748 | DLD | c.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) | |
7 | g.107915519A>C | CA368856751 | DLD | c.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) | |
7 | g.107915519A>G | CA368856753 | DLD | c.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 |
7 | g.107915519A>T | CA368856749 | DLD | c.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) | |
7 | g.107915520A= | CA1732859308 | DLD | c.699A= (p.Gln233=) c.*373A= (n.*373A=) c.555A= (p.Gln185=) c.630A= (p.Gln210=) c.*442A= (n.*442A=) c.402A= (p.Gln134=) | |
7 | g.107915520A>C | CA368856755 | DLD | c.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) | |
7 | g.107915520A>G | CA457108690 | DLD | c.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 |
7 | g.107915520A>T | CA368856756 | DLD | c.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) | |
7 | g.107915521A= | CA1732859309 | DLD | c.700A= (p.Arg234=) c.*374A= (n.*374A=) c.556A= (p.Arg186=) c.631A= (p.Arg211=) c.*443A= (n.*443A=) c.403A= (p.Arg135=) | |
7 | g.107915521A>C | CA4434549 | DLD | c.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 |
7 | g.107915521A>G | CA368856760 | DLD | c.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) | |
7 | g.107915521A>T | CA368856761 | DLD | c.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) | |
7 | g.107915522G>A | CA368856767 | DLD | c.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) | |
7 | g.107915522G>C | CA368856764 | DLD | c.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) | |
7 | g.107915522G>T | CA368856766 | DLD | c.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) | |
7 | g.107915523A>C | CA368856770 | DLD | c.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) | |
7 | g.107915523A>G | CA457108694 | DLD | c.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=) | |
7 | g.107915523A>T | CA368856772 | DLD | c.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) | |
7 | g.107915524C>A | CA368856773 | DLD | c.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) | |
7 | g.107915524C= | CA1732859311 | DLD | c.703C= (p.Leu235=) c.*377C= (n.*377C=) c.559C= (p.Leu187=) c.634C= (p.Leu212=) c.*446C= (n.*446C=) c.406C= (p.Leu136=) | |
7 | g.107915524C>G | CA368856775 | DLD | c.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 |
7 | g.107915524C>T | CA368856777 | DLD | c.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 |
7 | g.107915524_107915526delinsCTT | CA1732859310 | DLD | c.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=) | |
7 | g.107915525T>A | CA368856783 | DLD | c.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) | |
7 | g.107915525T>C | CA368856785 | DLD | c.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) | |
7 | g.107915525T>G | CA368856781 | DLD | c.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) | |
7 | g.107915525_107915526del | CA4434550 | DLD | c.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 |
7 | g.107915526T>A | CA457108699 | DLD | c.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=) | |
7 | g.107915526T>C | CA457108700 | DLD | c.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=) | |
7 | g.107915526T>G | CA457108702 | DLD | c.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=) | |
7 | g.107915527G>A | CA368856788 | DLD | c.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) | |
7 | g.107915527G>C | CA368856787 | DLD | c.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) | |
7 | g.107915527G>T | CA368856791 | DLD | c.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 |
7 | g.107915528G>A | CA368856793 | DLD | c.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) | |
7 | g.107915528G>C | CA368856794 | DLD | c.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) | |
7 | g.107915528G>T | CA368856795 | DLD | c.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) | |
7 | g.107915529T>A | CA457108707 | DLD | c.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=) | |
7 | g.107915529T>C | CA457108708 | DLD | c.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=) | |
7 | g.107915529T>G | CA457108709 | DLD | c.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=) | |
7 | g.107915530G>A | CA368856797 | DLD | c.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) | |
7 | g.107915530G>C | CA368856798 | DLD | c.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) | |
7 | g.107915530G>T | CA368856800 | DLD | c.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) | |
7 | g.107915531C>A | CA368856802 | DLD | c.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) | |
7 | g.107915531C= | CA1732859312 | DLD | c.710C= (p.Ala237=) c.*384C= (n.*384C=) c.566C= (p.Ala189=) c.641C= (p.Ala214=) c.*453C= (n.*453C=) c.413C= (p.Ala138=) | |
7 | g.107915531C>G | CA368856804 | DLD | c.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 |
7 | g.107915531C>T | CA368856806 | DLD | c.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) | |
7 | g.107915532A>C | CA457108714 | DLD | c.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=) | |
7 | g.107915532A>G | CA457108715 | DLD | c.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=) | |
7 | g.107915532A>T | CA457108716 | DLD | c.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=) | |
7 | g.107915533G>A | CA368856808 | DLD | c.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) | |
7 | g.107915533G>C | CA368856810 | DLD | c.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) | |
7 | g.107915533G>T | CA368856812 | DLD | c.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) | |
7 | g.107915534A>C | CA368856818 | DLD | c.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) | |
7 | g.107915534A>G | CA368856814 | DLD | c.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) | |
7 | g.107915534A>T | CA368856816 | DLD | c.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) | |
7 | g.107915535T>A | CA368856820 | DLD | c.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) | |
7 | g.107915535T>C | CA457108720 | DLD | c.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=) | |
7 | g.107915535T>G | CA368856821 | DLD | c.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) | |
7 | g.107915536G>A | CA368856824 | DLD | c.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 |
7 | g.107915536G>C | CA368856826 | DLD | c.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) | |
7 | g.107915536G= | CA1732859313 | DLD | c.715G= (p.Val239=) c.*389G= (n.*389G=) c.571G= (p.Val191=) c.646G= (p.Val216=) c.*458G= (n.*458G=) c.418G= (p.Val140=) | |
7 | g.107915536G>T | CA368856827 | DLD | c.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) | |
7 | g.107915537T>A | CA368856830 | DLD | c.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) | |
7 | g.107915537T>C | CA368856831 | DLD | c.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) | |
7 | g.107915537T>G | CA368856833 | DLD | c.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) | |
7 | g.107915538G>A | CA457108723 | DLD | c.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=) | |
7 | g.107915538G>C | CA457108725 | DLD | c.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=) | |
7 | g.107915538G>T | CA457108727 | DLD | c.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=) | |
7 | g.107915539A>C | CA368856835 | DLD | c.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) | |
7 | g.107915539A>G | CA368856837 | DLD | c.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 |
7 | g.107915539A>T | CA368856839 | DLD | c.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) | |
7 | g.107915540C>A | CA368856843 | DLD | c.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) | |
7 | g.107915540C= | CA1732859314 | DLD | c.719C= (p.Thr240=) c.*393C= (n.*393C=) c.575C= (p.Thr192=) c.650C= (p.Thr217=) c.*462C= (n.*462C=) c.422C= (p.Thr141=) | |
7 | g.107915540C>G | CA368856845 | DLD | c.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) | |
7 | g.107915540C>T | CA368856841 | DLD | c.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 |
7 | g.107915541A= | CA1732859315 | DLD | c.720A= (p.Thr240=) c.*394A= (n.*394A=) c.576A= (p.Thr192=) c.651A= (p.Thr217=) c.*463A= (n.*463A=) c.423A= (p.Thr141=) | |
7 | g.107915541A>C | CA457108732 | DLD | c.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=) | |
7 | g.107915541A>G | CA457108736 | DLD | c.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 |
7 | g.107915541A>T | CA457108734 | DLD | c.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=) | |
7 | g.107915542G>A | CA368856847 | DLD | c.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 |
7 | g.107915542G>C | CA368856849 | DLD | c.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) | |
7 | g.107915542G>T | CA368856851 | DLD | c.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) | |
7 | g.107915543C>A | CA368856853 | DLD | c.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) | |
7 | g.107915543C= | CA1732859316 | DLD | c.722C= (p.Ala241=) c.*396C= (n.*396C=) c.578C= (p.Ala193=) c.653C= (p.Ala218=) c.*465C= (n.*465C=) c.425C= (p.Ala142=) | |
7 | g.107915543C>G | CA368856855 | DLD | c.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) | |
7 | g.107915543C>T | CA312462 | DLD | c.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 |
7 | g.107915544A= | CA1732859317 | DLD | c.723A= (p.Ala241=) c.*397A= (n.*397A=) c.579A= (p.Ala193=) c.654A= (p.Ala218=) c.*466A= (n.*466A=) c.426A= (p.Ala142=) | |
7 | g.107915544A>C | CA4434551 | DLD | c.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 |
7 | g.107915544A>G | CA457108738 | DLD | c.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 |
7 | g.107915544A>T | CA457108737 | DLD | c.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=) | |
7 | g.107915545G>A | CA368856858 | DLD | c.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) | |
7 | g.107915545G>C | CA368856860 | DLD | c.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) | |
7 | g.107915545G>T | CA368856862 | DLD | c.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) | |
7 | g.107915546T>A | CA368856864 | DLD | c.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) | |
7 | g.107915546T>C | CA368856866 | DLD | c.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 |
7 | g.107915546T>G | CA368856868 | DLD | c.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) | |
7 | g.107915546T= | CA1732859318 | DLD | c.725T= (p.Val242=) c.*399T= (n.*399T=) c.581T= (p.Val194=) c.656T= (p.Val219=) c.*468T= (n.*468T=) c.428T= (p.Val143=) | |
7 | g.107915547T>A | CA457108739 | DLD | c.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=) | |
7 | g.107915547T>C | CA457108740 | DLD | c.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=) | |
7 | g.107915547T>G | CA457108741 | DLD | c.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=) | |
7 | g.107915548G>A | CA368856877 | DLD | c.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) | |
7 | g.107915548G>C | CA368856875 | DLD | c.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 |
7 | g.107915548G= | CA1732859319 | DLD | c.727G= (p.Glu243=) c.*401G= (n.*401G=) c.583G= (p.Glu195=) c.658G= (p.Glu220=) c.*470G= (n.*470G=) c.430G= (p.Glu144=) | |
7 | g.107915548G>T | CA368856870 | DLD | c.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) | |
7 | g.107915549A>C | CA368856880 | DLD | c.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) | |
7 | g.107915549A>G | CA368856882 | DLD | c.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) | |
7 | g.107915549A>T | CA368856884 | DLD | c.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) | |
7 | g.107915550A= | CA1732859320 | DLD | c.729A= (p.Glu243=) c.*403A= (n.*403A=) c.585A= (p.Glu195=) c.660A= (p.Glu220=) c.*472A= (n.*472A=) c.432A= (p.Glu144=) | |
7 | g.107915550A>C | CA368856886 | DLD | c.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) | |
7 | g.107915550A>G | CA457108745 | DLD | c.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 |
7 | g.107915550A>T | CA368856887 | DLD | c.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) | |
7 | g.107915551T>A | CA368856890 | DLD | c.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) | |
7 | g.107915551T>C | CA368856891 | DLD | c.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) | |
7 | g.107915551T>G | CA368856893 | DLD | c.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 |
7 | g.107915555del | CA457108747 | DLD | c.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 |
7 | g.107915552T>A | CA368856896 | DLD | c.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) | |
7 | g.107915552T>C | CA368856897 | DLD | c.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) | |
7 | g.107915552T>G | CA368856899 | DLD | c.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) | |
7 | g.107915553T>A | CA368856901 | DLD | c.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) | |
7 | g.107915553T>C | CA457108751 | DLD | c.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=) | |
7 | g.107915553T>G | CA368856903 | DLD | c.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) | |
7 | g.107915554T>A | CA368856905 | DLD | c.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) | |
7 | g.107915554T>C | CA457108752 | DLD | c.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=) | |
7 | g.107915554T>G | CA368856907 | DLD | c.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) | |
7 | g.107915555T>A | CA368856909 | DLD | c.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) | |
7 | g.107915555T>C | CA368856911 | DLD | c.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) | |
7 | g.107915555T>G | CA368856913 | DLD | c.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) | |
7 | g.107915556A= | CA1732859321 | DLD | c.735A= (p.Leu245=) c.*409A= (n.*409A=) c.591A= (p.Leu197=) c.666A= (p.Leu222=) c.*478A= (n.*478A=) c.438A= (p.Leu146=) | |
7 | g.107915556A>C | CA368856915 | DLD | c.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) | |
7 | g.107915556A>G | CA4434552 | DLD | c.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 |
7 | g.107915556A>T | CA368856918 | DLD | c.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 |
7 | g.107915557G>A | CA368856923 | DLD | c.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) | |
7 | g.107915557G>C | CA368856921 | DLD | c.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) | |
7 | g.107915557G>T | CA368856920 | DLD | c.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 |
7 | g.107915558del | CA2695199604 | DLD | c.737del (p.Gly246ValfsTer3) c.*411del (n.*411del) c.593del (p.Gly198ValfsTer3) c.668del (p.Gly223ValfsTer3) c.*480del (n.*480del) c.440del (p.Gly147ValfsTer3) | ClinVar |
7 | g.107915558G>A | CA368856925 | DLD | c.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 |
7 | g.107915558G>C | CA368856927 | DLD | c.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 |
7 | g.107915558G= | CA1732859322 | DLD | c.737G= (p.Gly246=) c.*411G= (n.*411G=) c.593G= (p.Gly198=) c.668G= (p.Gly223=) c.*480G= (n.*480G=) c.440G= (p.Gly147=) | |
7 | g.107915558G>T | CA368856929 | DLD | c.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) | |
7 | g.107915559T>A | CA457108757 | DLD | c.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=) | |
7 | g.107915559T>C | CA457108758 | DLD | c.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=) | |
7 | g.107915559T>G | CA457108759 | DLD | c.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 |
7 | g.107915560C>A | CA368856930 | DLD | c.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 |
7 | g.107915560C>G | CA368856931 | DLD | c.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) | |
7 | g.107915560C>T | CA368856933 | DLD | c.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) | |
7 | g.107915561A= | CA1732859323 | DLD | c.740A= (p.His247=) c.*414A= (n.*414A=) c.596A= (p.His199=) c.671A= (p.His224=) c.*483A= (n.*483A=) c.443A= (p.His148=) | |
7 | g.107915561A>C | CA368856935 | DLD | c.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) | |
7 | g.107915561A>G | CA368856939 | DLD | c.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 |
7 | g.107915561A>T | CA368856937 | DLD | c.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) | |
7 | g.107915562T>A | CA368856941 | DLD | c.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) | |
7 | g.107915562T>C | CA4434553 | DLD | c.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 |
7 | g.107915562T>G | CA368856943 | DLD | c.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) | |
7 | g.107915562T= | CA1732859324 | DLD | c.741T= (p.His247=) c.*415T= (n.*415T=) c.597T= (p.His199=) c.672T= (p.His224=) c.*484T= (n.*484T=) c.444T= (p.His148=) | |
7 | g.107915563G>A | CA4434554 | DLD | c.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 |
7 | g.107915563G>C | CA368856946 | DLD | c.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) | |
7 | g.107915563G= | CA1732859325 | DLD | c.742G= (p.Val248=) c.*416G= (n.*416G=) c.598G= (p.Val200=) c.673G= (p.Val225=) c.*485G= (n.*485G=) c.445G= (p.Val149=) | |
7 | g.107915563G>T | CA368856948 | DLD | c.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 |
7 | g.107915564T>A | CA368856950 | DLD | c.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) | |
7 | g.107915564T>C | CA368856952 | DLD | c.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) | |
7 | g.107915564T>G | CA368856953 | DLD | c.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) | |
7 | g.107915565A= | CA1732859326 | DLD | c.744A= (p.Val248=) c.*418A= (n.*418A=) c.600A= (p.Val200=) c.675A= (p.Val225=) c.*487A= (n.*487A=) c.447A= (p.Val149=) | |
7 | g.107915565A>C | CA457108763 | DLD | c.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=) | |
7 | g.107915565A>G | CA457108764 | DLD | c.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 |
7 | g.107915565A>T | CA457108765 | DLD | c.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=) | |
7 | g.107915566G>A | CA368856956 | DLD | c.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 |
7 | g.107915566G>C | CA368856957 | DLD | c.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) | |
7 | g.107915566G>T | CA368856959 | DLD | c.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) | |
7 | g.107915567G>A | CA368856961 | DLD | c.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 |
7 | g.107915567G>C | CA368856964 | DLD | c.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) | |
7 | g.107915567G= | CA1732859327 | DLD | c.746G= (p.Gly249=) c.*420G= (n.*420G=) c.602G= (p.Gly201=) c.677G= (p.Gly226=) c.*489G= (n.*489G=) c.449G= (p.Gly150=) | |
7 | g.107915567G>T | CA368856963 | DLD | c.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) | |
7 | g.107915568T>A | CA457108769 | DLD | c.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=) | |
7 | g.107915568T>C | CA457108770 | DLD | c.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=) | |
7 | g.107915568T>G | CA457108771 | DLD | c.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=) | |
7 | g.107915569G>A | CA368856966 | DLD | c.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) | |
7 | g.107915569G>C | CA368856968 | DLD | c.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) | |
7 | g.107915569G= | CA1732859328 | DLD | c.748G= (p.Gly250=) c.*422G= (n.*422G=) c.604G= (p.Gly202=) c.679G= (p.Gly227=) c.*491G= (n.*491G=) c.451G= (p.Gly151=) | |
7 | g.107915569G>T | CA368856970 | DLD | c.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 |
7 | g.107915570G>A | CA368856972 | DLD | c.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) | |
7 | g.107915570G>C | CA368856974 | DLD | c.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) | |
7 | g.107915570G>T | CA368856976 | DLD | c.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) | |
7 | g.107915571A>C | CA457108774 | DLD | c.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=) | |
7 | g.107915571A>G | CA457108775 | DLD | c.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=) | |
7 | g.107915571A>T | CA457108777 | DLD | c.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=) | |
7 | g.107915572G>A | CA368856978 | DLD | c.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) | |
7 | g.107915572G>C | CA368856980 | DLD | c.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) | |
7 | g.107915572G>T | CA368856982 | DLD | c.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) | |
7 | g.107915573T>A | CA368856983 | DLD | c.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) | |
7 | g.107915573T>C | CA368856985 | DLD | c.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) | |
7 | g.107915573T>G | CA4434555 | DLD | c.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 |
7 | g.107915573T= | CA1732859329 | DLD | c.752T= (p.Val251=) c.*426T= (n.*426T=) c.608T= (p.Val203=) c.683T= (p.Val228=) c.*495T= (n.*495T=) c.455T= (p.Val152=) | |
7 | g.107915574T>A | CA457108778 | DLD | c.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=) | |
7 | g.107915574T>C | CA457108779 | DLD | c.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=) | |
7 | g.107915574T>G | CA457108780 | DLD | c.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=) | |
7 | g.107915575G>A | CA368856990 | DLD | c.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) | |
7 | g.107915575G>C | CA368856989 | DLD | c.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) | |
7 | g.107915575G>T | CA368856988 | DLD | c.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) | |
7 | g.107915575_107915576delinsAA | CA645541917 | DLD | c.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 |
7 | g.107915576G>A | CA368856992 | DLD | c.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 |
7 | g.107915576G>C | CA368856994 | DLD | c.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) | |
7 | g.107915576G= | CA1732859330 | DLD | c.755G= (p.Gly252=) c.*429G= (n.*429G=) c.611G= (p.Gly204=) c.686G= (p.Gly229=) c.*498G= (n.*498G=) c.458G= (p.Gly153=) | |
7 | g.107915576G>T | CA368856996 | DLD | c.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) | |
7 | g.107915577A>C | CA457108783 | DLD | c.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=) | |
7 | g.107915577A>G | CA457108784 | DLD | c.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=) | |
7 | g.107915577A>T | CA457108782 | DLD | c.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=) | |
7 | g.107915578A>C | CA368856998 | DLD | c.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) | |
7 | g.107915578A>G | CA368856999 | DLD | c.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) | |
7 | g.107915578A>T | CA368857001 | DLD | c.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) | |
7 | g.107915579T>A | CA368857004 | DLD | c.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) | |
7 | g.107915579T>C | CA368857005 | DLD | c.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) | |
7 | g.107915579T>G | CA368857007 | DLD | c.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) | |
7 | g.107915580T>A | CA457108786 | DLD | c.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=) | |
7 | g.107915580T>C | CA457108785 | DLD | c.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=) | |
7 | g.107915580T>G | CA368857009 | DLD | c.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) | |
7 | g.107915581G>A | CA368857011 | DLD | c.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 |
7 | g.107915581G>C | CA368857013 | DLD | c.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) | |
7 | g.107915581G>T | CA368857015 | DLD | c.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) | |
7 | g.107915582A>C | CA368857018 | DLD | c.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) | |
7 | g.107915582A>G | CA368857019 | DLD | c.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) | |
7 | g.107915582A>T | CA368857017 | DLD | c.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 |
7 | g.107915584_107915585del | CA2684464842 | DLD | c.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 |
7 | g.107915583T>A | CA368857023 | DLD | c.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) | |
7 | g.107915583T>C | CA457108790 | DLD | c.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=) | |
7 | g.107915583T>G | CA368857021 | DLD | c.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) | |
7 | g.107915584A= | CA1732859331 | DLD | c.763A= (p.Met255=) c.*437A= (n.*437A=) c.619A= (p.Met207=) c.694A= (p.Met232=) c.*506A= (n.*506A=) c.466A= (p.Met156=) | |
7 | g.107915584A>C | CA312464 | DLD | c.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 |
7 | g.107915584A>G | CA368857025 | DLD | c.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) | |
7 | g.107915584A>T | CA164257674 | DLD | c.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 |
7 | g.107915585T>A | CA368857029 | DLD | c.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) | |
7 | g.107915585T>C | CA164257687 | DLD | c.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 |
7 | g.107915585T>G | CA368857032 | DLD | c.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 |
7 | g.107915585T= | CA1732859332 | DLD | c.764T= (p.Met255=) c.*438T= (n.*438T=) c.620T= (p.Met207=) c.695T= (p.Met232=) c.*507T= (n.*507T=) c.467T= (p.Met156=) | |
7 | g.107915586G>A | CA368857034 | DLD | c.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 |
7 | g.107915586G>C | CA368857037 | DLD | c.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) | |
7 | g.107915586G>T | CA368857038 | DLD | c.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) | |
7 | g.107915587G>A | CA368857041 | DLD | c.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) | |
7 | g.107915587G>C | CA368857042 | DLD | c.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) | |
7 | g.107915587G>T | CA368857043 | DLD | c.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) | |
7 | g.107915588A= | CA1732859333 | DLD | c.767A= (p.Glu256=) c.*441A= (n.*441A=) c.623A= (p.Glu208=) c.698A= (p.Glu233=) c.*510A= (n.*510A=) c.470A= (p.Glu157=) | |
7 | g.107915588A>C | CA368857044 | DLD | c.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) | |
7 | g.107915588A>G | CA368857045 | DLD | c.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) | |
7 | g.107915588A>T | CA368857046 | DLD | c.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 |
7 | g.107915589G>A | CA457108792 | DLD | c.768G>A (p.Glu256=) c.*442G>A (n.*442G>A) c.624G>A (p.Glu208=) c.699G>A (p.Glu233=) c.*511G>A (n.*511G>A) c.471G>A (p.Glu157=) | |
7 | g.107915589G>C | CA368857048 | DLD | c.768G>C (p.Glu256Asp) c.*442G>C (n.*442G>C) c.624G>C (p.Glu208Asp) c.699G>C (p.Glu233Asp) c.*511G>C (n.*511G>C) c.471G>C (p.Glu157Asp) | |
7 | g.107915589G= | CA1732859334 | DLD | c.768G= (p.Glu256=) c.*442G= (n.*442G=) c.624G= (p.Glu208=) c.699G= (p.Glu233=) c.*511G= (n.*511G=) c.471G= (p.Glu157=) | |
7 | g.107915589G>T | CA4434556 | DLD | c.768G>T (p.Glu256Asp) c.*442G>T (n.*442G>T) c.624G>T (p.Glu208Asp) c.699G>T (p.Glu233Asp) c.*511G>T (n.*511G>T) c.471G>T (p.Glu157Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |