| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.107915590A= | CA1732859335 | DLD | c.769A= (p.Ile257=) c.*443A= (n.*443A=) c.625A= (p.Ile209=) c.700A= (p.Ile234=) c.*512A= (n.*512A=) c.472A= (p.Ile158=) | |
| 7 | g.107915590A>C | CA368857051 | DLD | c.769A>C (p.Ile257Leu) c.*443A>C (n.*443A>C) c.625A>C (p.Ile209Leu) c.700A>C (p.Ile234Leu) c.*512A>C (n.*512A>C) c.472A>C (p.Ile158Leu) | |
| 7 | g.107915590A>G | CA368857050 | DLD | c.769A>G (p.Ile257Val) c.*443A>G (n.*443A>G) c.625A>G (p.Ile209Val) c.700A>G (p.Ile234Val) c.*512A>G (n.*512A>G) c.472A>G (p.Ile158Val) | |
| 7 | g.107915590A>T | CA368857049 | DLD | c.769A>T (p.Ile257Leu) c.*443A>T (n.*443A>T) c.625A>T (p.Ile209Leu) c.700A>T (p.Ile234Leu) c.*512A>T (n.*512A>T) c.472A>T (p.Ile158Leu) | dbSNP |
| 7 | g.107915591T>A | CA368857053 | DLD | c.770T>A (p.Ile257Lys) c.*444T>A (n.*444T>A) c.626T>A (p.Ile209Lys) c.701T>A (p.Ile234Lys) c.*513T>A (n.*513T>A) c.473T>A (p.Ile158Lys) | |
| 7 | g.107915591T>C | CA368857054 | DLD | c.770T>C (p.Ile257Thr) c.*444T>C (n.*444T>C) c.626T>C (p.Ile209Thr) c.701T>C (p.Ile234Thr) c.*513T>C (n.*513T>C) c.473T>C (p.Ile158Thr) | gnomAD v4 |
| 7 | g.107915591T>G | CA368857056 | DLD | c.770T>G (p.Ile257Arg) c.*444T>G (n.*444T>G) c.626T>G (p.Ile209Arg) c.701T>G (p.Ile234Arg) c.*513T>G (n.*513T>G) c.473T>G (p.Ile158Arg) | ClinVar |
| 7 | g.107915592A>C | CA457108795 | DLD | c.771A>C (p.Ile257=) c.*445A>C (n.*445A>C) c.627A>C (p.Ile209=) c.702A>C (p.Ile234=) c.*514A>C (n.*514A>C) c.474A>C (p.Ile158=) | |
| 7 | g.107915592A>G | CA368857058 | DLD | c.771A>G (p.Ile257Met) c.*445A>G (n.*445A>G) c.627A>G (p.Ile209Met) c.702A>G (p.Ile234Met) c.*514A>G (n.*514A>G) c.474A>G (p.Ile158Met) | |
| 7 | g.107915592A>T | CA457108796 | DLD | c.771A>T (p.Ile257=) c.*445A>T (n.*445A>T) c.627A>T (p.Ile209=) c.702A>T (p.Ile234=) c.*514A>T (n.*514A>T) c.474A>T (p.Ile158=) | |
| 7 | g.107915593T>A | CA4434557 | DLD | c.772T>A (p.Ser258Thr) c.*446T>A (n.*446T>A) c.628T>A (p.Ser210Thr) c.703T>A (p.Ser235Thr) c.*515T>A (n.*515T>A) c.475T>A (p.Ser159Thr) | dbSNP ExAC gnomAD v2 |
| 7 | g.107915593T>C | CA368857060 | DLD | c.772T>C (p.Ser258Pro) c.*446T>C (n.*446T>C) c.628T>C (p.Ser210Pro) c.703T>C (p.Ser235Pro) c.*515T>C (n.*515T>C) c.475T>C (p.Ser159Pro) | gnomAD v4 |
| 7 | g.107915593T>G | CA368857062 | DLD | c.772T>G (p.Ser258Ala) c.*446T>G (n.*446T>G) c.628T>G (p.Ser210Ala) c.703T>G (p.Ser235Ala) c.*515T>G (n.*515T>G) c.475T>G (p.Ser159Ala) | |
| 7 | g.107915593T= | CA1732859336 | DLD | c.772T= (p.Ser258=) c.*446T= (n.*446T=) c.628T= (p.Ser210=) c.703T= (p.Ser235=) c.*515T= (n.*515T=) c.475T= (p.Ser159=) | |
| 7 | g.107915594C>A | CA368857063 | DLD | c.773C>A (p.Ser258Tyr) c.*447C>A (n.*447C>A) c.629C>A (p.Ser210Tyr) c.704C>A (p.Ser235Tyr) c.*516C>A (n.*516C>A) c.476C>A (p.Ser159Tyr) | |
| 7 | g.107915594C= | CA1732859337 | DLD | c.773C= (p.Ser258=) c.*447C= (n.*447C=) c.629C= (p.Ser210=) c.704C= (p.Ser235=) c.*516C= (n.*516C=) c.476C= (p.Ser159=) | |
| 7 | g.107915594C>G | CA164257698 | DLD | c.773C>G (p.Ser258Cys) c.*447C>G (n.*447C>G) c.629C>G (p.Ser210Cys) c.704C>G (p.Ser235Cys) c.*516C>G (n.*516C>G) c.476C>G (p.Ser159Cys) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.107915594C>T | CA368857064 | DLD | c.773C>T (p.Ser258Phe) c.*447C>T (n.*447C>T) c.629C>T (p.Ser210Phe) c.704C>T (p.Ser235Phe) c.*516C>T (n.*516C>T) c.476C>T (p.Ser159Phe) | |
| 7 | g.107915595T>A | CA457108800 | DLD | c.774T>A (p.Ser258=) c.*448T>A (n.*448T>A) c.630T>A (p.Ser210=) c.705T>A (p.Ser235=) c.*517T>A (n.*517T>A) c.477T>A (p.Ser159=) | |
| 7 | g.107915595T>C | CA4434558 | DLD | c.774T>C (p.Ser258=) c.*448T>C (n.*448T>C) c.630T>C (p.Ser210=) c.705T>C (p.Ser235=) c.*517T>C (n.*517T>C) c.477T>C (p.Ser159=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.107915595T>G | CA457108801 | DLD | c.774T>G (p.Ser258=) c.*448T>G (n.*448T>G) c.630T>G (p.Ser210=) c.705T>G (p.Ser235=) c.*517T>G (n.*517T>G) c.477T>G (p.Ser159=) | gnomAD v4 |
| 7 | g.107915595T= | CA1732859338 | DLD | c.774T= (p.Ser258=) c.*448T= (n.*448T=) c.630T= (p.Ser210=) c.705T= (p.Ser235=) c.*517T= (n.*517T=) c.477T= (p.Ser159=) | |
| 7 | g.107915596A>C | CA368857066 | DLD | c.775A>C (p.Lys259Gln) c.*449A>C (n.*449A>C) c.631A>C (p.Lys211Gln) c.706A>C (p.Lys236Gln) c.478A>C (p.Lys160Gln) | |
| 7 | g.107915596A>G | CA368857068 | DLD | c.775A>G (p.Lys259Glu) c.*449A>G (n.*449A>G) c.631A>G (p.Lys211Glu) c.706A>G (p.Lys236Glu) c.478A>G (p.Lys160Glu) | |
| 7 | g.107915596A>T | CA368857070 | DLD | c.775A>T (p.Lys259Ter) c.*449A>T (n.*449A>T) c.631A>T (p.Lys211Ter) c.706A>T (p.Lys236Ter) c.478A>T (p.Lys160Ter) | |
| 7 | g.107915597A>C | CA368857074 | DLD | c.776A>C (p.Lys259Thr) c.*450A>C (n.*450A>C) c.632A>C (p.Lys211Thr) c.707A>C (p.Lys236Thr) c.479A>C (p.Lys160Thr) | |
| 7 | g.107915597A>G | CA368857076 | DLD | c.776A>G (p.Lys259Arg) c.*450A>G (n.*450A>G) c.632A>G (p.Lys211Arg) c.707A>G (p.Lys236Arg) c.479A>G (p.Lys160Arg) | |
| 7 | g.107915597A>T | CA368857072 | DLD | c.776A>T (p.Lys259Ile) c.*450A>T (n.*450A>T) c.632A>T (p.Lys211Ile) c.707A>T (p.Lys236Ile) c.479A>T (p.Lys160Ile) | |
| 7 | g.107915598A= | CA1732859339 | DLD | c.777A= (p.Lys259=) c.*451A= (n.*451A=) c.633A= (p.Lys211=) c.708A= (p.Lys236=) c.480A= (p.Lys160=) | |
| 7 | g.107915598A>C | CA368857078 | DLD | c.777A>C (p.Lys259Asn) c.*451A>C (n.*451A>C) c.633A>C (p.Lys211Asn) c.708A>C (p.Lys236Asn) c.480A>C (p.Lys160Asn) | |
| 7 | g.107915598A>G | CA290608 | DLD | c.777A>G (p.Lys259=) c.*451A>G (n.*451A>G) c.633A>G (p.Lys211=) c.708A>G (p.Lys236=) c.480A>G (p.Lys160=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107915598A>T | CA368857080 | DLD | c.777A>T (p.Lys259Asn) c.*451A>T (n.*451A>T) c.633A>T (p.Lys211Asn) c.708A>T (p.Lys236Asn) c.480A>T (p.Lys160Asn) | |
| 7 | g.107915599A>C | CA368857083 | DLD | c.778A>C (p.Asn260His) c.*452A>C (n.*452A>C) c.634A>C (p.Asn212His) c.709A>C (p.Asn237His) c.481A>C (p.Asn161His) | |
| 7 | g.107915599A>G | CA368857084 | DLD | c.778A>G (p.Asn260Asp) c.*452A>G (n.*452A>G) c.634A>G (p.Asn212Asp) c.709A>G (p.Asn237Asp) c.481A>G (p.Asn161Asp) | |
| 7 | g.107915599A>T | CA368857085 | DLD | c.778A>T (p.Asn260Tyr) c.*452A>T (n.*452A>T) c.634A>T (p.Asn212Tyr) c.709A>T (p.Asn237Tyr) c.481A>T (p.Asn161Tyr) | |
| 7 | g.107915600A= | CA1732859340 | DLD | c.779A= (p.Asn260=) c.*453A= (n.*453A=) c.635A= (p.Asn212=) c.710A= (p.Asn237=) c.482A= (p.Asn161=) | |
| 7 | g.107915600A>C | CA368857091 | DLD | c.779A>C (p.Asn260Thr) c.*453A>C (n.*453A>C) c.635A>C (p.Asn212Thr) c.710A>C (p.Asn237Thr) c.482A>C (p.Asn161Thr) | dbSNP gnomAD v4 |
| 7 | g.107915600A>G | CA368857088 | DLD | c.779A>G (p.Asn260Ser) c.*453A>G (n.*453A>G) c.635A>G (p.Asn212Ser) c.710A>G (p.Asn237Ser) c.482A>G (p.Asn161Ser) | |
| 7 | g.107915600A>T | CA368857089 | DLD | c.779A>T (p.Asn260Ile) c.*453A>T (n.*453A>T) c.635A>T (p.Asn212Ile) c.710A>T (p.Asn237Ile) c.482A>T (p.Asn161Ile) | |
| 7 | g.107915601C>A | CA368857093 | DLD | c.780C>A (p.Asn260Lys) c.*454C>A (n.*454C>A) c.636C>A (p.Asn212Lys) c.711C>A (p.Asn237Lys) c.483C>A (p.Asn161Lys) | |
| 7 | g.107915601C= | CA1732859341 | DLD | c.780C= (p.Asn260=) c.*454C= (n.*454C=) c.636C= (p.Asn212=) c.711C= (p.Asn237=) c.483C= (p.Asn161=) | |
| 7 | g.107915601C>G | CA368857095 | DLD | c.780C>G (p.Asn260Lys) c.*454C>G (n.*454C>G) c.636C>G (p.Asn212Lys) c.711C>G (p.Asn237Lys) c.483C>G (p.Asn161Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.107915601C>T | CA457108805 | DLD | c.780C>T (p.Asn260=) c.*454C>T (n.*454C>T) c.636C>T (p.Asn212=) c.711C>T (p.Asn237=) c.483C>T (p.Asn161=) | |
| 7 | g.107915601_107915602delinsCT | CA1732859342 | DLD | c.780_781delinsCT (p.Asn260=) c.*454_*455delinsCT (n.*454_*455delinsCT) c.636_637delinsCT (p.Asn212=) c.711_712delinsCT (p.Asn237=) c.483_484delinsCT (p.Asn161=) | |
| 7 | g.107915602T>A | CA368857097 | DLD | c.781T>A (p.Phe261Ile) c.*455T>A (n.*455T>A) c.637T>A (p.Phe213Ile) c.712T>A (p.Phe238Ile) c.484T>A (p.Phe162Ile) | |
| 7 | g.107915602T>C | CA368857099 | DLD | c.781T>C (p.Phe261Leu) c.*455T>C (n.*455T>C) c.637T>C (p.Phe213Leu) c.712T>C (p.Phe238Leu) c.484T>C (p.Phe162Leu) | gnomAD v4 |
| 7 | g.107915602T>G | CA368857101 | DLD | c.781T>G (p.Phe261Val) c.*455T>G (n.*455T>G) c.637T>G (p.Phe213Val) c.712T>G (p.Phe238Val) c.484T>G (p.Phe162Val) | dbSNP gnomAD v2 |
| 7 | g.107915602T= | CA1732859343 | DLD | c.781T= (p.Phe261=) c.*455T= (n.*455T=) c.637T= (p.Phe213=) c.712T= (p.Phe238=) c.484T= (p.Phe162=) | |
| 7 | g.107915604del | CA577199128 | DLD | c.783del (p.Gln262AsnfsTer13) c.*457del (n.*457del) c.639del (p.Gln214AsnfsTer13) c.714del (p.Gln239AsnfsTer13) c.486del (p.Gln163AsnfsTer13) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.107915603T>A | CA368857103 | DLD | c.782T>A (p.Phe261Tyr) c.*456T>A (n.*456T>A) c.638T>A (p.Phe213Tyr) c.713T>A (p.Phe238Tyr) c.485T>A (p.Phe162Tyr) | |
| 7 | g.107915603T>C | CA368857106 | DLD | c.782T>C (p.Phe261Ser) c.*456T>C (n.*456T>C) c.638T>C (p.Phe213Ser) c.713T>C (p.Phe238Ser) c.485T>C (p.Phe162Ser) | |
| 7 | g.107915603T>G | CA368857104 | DLD | c.782T>G (p.Phe261Cys) c.*456T>G (n.*456T>G) c.638T>G (p.Phe213Cys) c.713T>G (p.Phe238Cys) c.485T>G (p.Phe162Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107915603T= | CA1732859344 | DLD | c.782T= (p.Phe261=) c.*456T= (n.*456T=) c.638T= (p.Phe213=) c.713T= (p.Phe238=) c.485T= (p.Phe162=) | |
| 7 | g.107915604T>A | CA368857109 | DLD | c.783T>A (p.Phe261Leu) c.*457T>A (n.*457T>A) c.639T>A (p.Phe213Leu) c.714T>A (p.Phe238Leu) c.486T>A (p.Phe162Leu) | |
| 7 | g.107915604T>C | CA457108809 | DLD | c.783T>C (p.Phe261=) c.*457T>C (n.*457T>C) c.639T>C (p.Phe213=) c.714T>C (p.Phe238=) c.486T>C (p.Phe162=) | gnomAD v4 |
| 7 | g.107915604T>G | CA368857110 | DLD | c.783T>G (p.Phe261Leu) c.*457T>G (n.*457T>G) c.639T>G (p.Phe213Leu) c.714T>G (p.Phe238Leu) c.486T>G (p.Phe162Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107915604T= | CA1732859345 | DLD | c.783T= (p.Phe261=) c.*457T= (n.*457T=) c.639T= (p.Phe213=) c.714T= (p.Phe238=) c.486T= (p.Phe162=) | |
| 7 | g.107915605C>A | CA368857112 | DLD | c.784C>A (p.Gln262Lys) c.*458C>A (n.*458C>A) c.640C>A (p.Gln214Lys) c.715C>A (p.Gln239Lys) c.487C>A (p.Gln163Lys) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.107915605C= | CA1732859346 | DLD | c.784C= (p.Gln262=) c.*458C= (n.*458C=) c.640C= (p.Gln214=) c.715C= (p.Gln239=) c.487C= (p.Gln163=) | |
| 7 | g.107915605C>G | CA368857114 | DLD | c.784C>G (p.Gln262Glu) c.*458C>G (n.*458C>G) c.640C>G (p.Gln214Glu) c.715C>G (p.Gln239Glu) c.487C>G (p.Gln163Glu) | |
| 7 | g.107915605C>T | CA368857116 | DLD | c.784C>T (p.Gln262Ter) c.*458C>T (n.*458C>T) c.640C>T (p.Gln214Ter) c.715C>T (p.Gln239Ter) c.487C>T (p.Gln163Ter) | |
| 7 | g.107915606A>C | CA368857118 | DLD | c.785A>C (p.Gln262Pro) c.*459A>C (n.*459A>C) c.641A>C (p.Gln214Pro) c.716A>C (p.Gln239Pro) c.488A>C (p.Gln163Pro) | |
| 7 | g.107915606A>G | CA368857120 | DLD | c.785A>G (p.Gln262Arg) c.*459A>G (n.*459A>G) c.641A>G (p.Gln214Arg) c.716A>G (p.Gln239Arg) c.488A>G (p.Gln163Arg) | |
| 7 | g.107915606A>T | CA368857122 | DLD | c.785A>T (p.Gln262Leu) c.*459A>T (n.*459A>T) c.641A>T (p.Gln214Leu) c.716A>T (p.Gln239Leu) c.488A>T (p.Gln163Leu) | |
| 7 | g.107915607A>C | CA368857124 | DLD | c.786A>C (p.Gln262His) c.*460A>C (n.*460A>C) c.642A>C (p.Gln214His) c.717A>C (p.Gln239His) c.489A>C (p.Gln163His) | |
| 7 | g.107915607A>G | CA457108814 | DLD | c.786A>G (p.Gln262=) c.*460A>G (n.*460A>G) c.642A>G (p.Gln214=) c.717A>G (p.Gln239=) c.489A>G (p.Gln163=) | |
| 7 | g.107915607A>T | CA368857126 | DLD | c.786A>T (p.Gln262His) c.*460A>T (n.*460A>T) c.642A>T (p.Gln214His) c.717A>T (p.Gln239His) c.489A>T (p.Gln163His) | |
| 7 | g.107915608C>A | CA368857128 | DLD | c.787C>A (p.Arg263Ser) c.*461C>A (n.*461C>A) c.643C>A (p.Arg215Ser) c.718C>A (p.Arg240Ser) c.490C>A (p.Arg164Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.107915608C= | CA1732859347 | DLD | c.787C= (p.Arg263=) c.*461C= (n.*461C=) c.643C= (p.Arg215=) c.718C= (p.Arg240=) c.490C= (p.Arg164=) | |
| 7 | g.107915608C>G | CA368857130 | DLD | c.787C>G (p.Arg263Gly) c.*461C>G (n.*461C>G) c.643C>G (p.Arg215Gly) c.718C>G (p.Arg240Gly) c.490C>G (p.Arg164Gly) | |
| 7 | g.107915608C>T | CA4434559 | DLD | c.787C>T (p.Arg263Cys) c.*461C>T (n.*461C>T) c.643C>T (p.Arg215Cys) c.718C>T (p.Arg240Cys) c.490C>T (p.Arg164Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.107915609G>A | CA312466 | DLD | c.788G>A (p.Arg263His) c.*462G>A (n.*462G>A) c.644G>A (p.Arg215His) c.719G>A (p.Arg240His) c.491G>A (p.Arg164His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107915609G>C | CA368857133 | DLD | c.788G>C (p.Arg263Pro) c.*462G>C (n.*462G>C) c.644G>C (p.Arg215Pro) c.719G>C (p.Arg240Pro) c.491G>C (p.Arg164Pro) | |
| 7 | g.107915609G= | CA1732859348 | DLD | c.788G= (p.Arg263=) c.*462G= (n.*462G=) c.644G= (p.Arg215=) c.719G= (p.Arg240=) c.491G= (p.Arg164=) | |
| 7 | g.107915609G>T | CA368857132 | DLD | c.788G>T (p.Arg263Leu) c.*462G>T (n.*462G>T) c.644G>T (p.Arg215Leu) c.719G>T (p.Arg240Leu) c.491G>T (p.Arg164Leu) | |
| 7 | g.107915610C>A | CA457108815 | DLD | c.789C>A (p.Arg263=) c.*463C>A (n.*463C>A) c.645C>A (p.Arg215=) c.720C>A (p.Arg240=) c.492C>A (p.Arg164=) | |
| 7 | g.107915610C>G | CA457108818 | DLD | c.789C>G (p.Arg263=) c.*463C>G (n.*463C>G) c.645C>G (p.Arg215=) c.720C>G (p.Arg240=) c.492C>G (p.Arg164=) | |
| 7 | g.107915610C>T | CA457108816 | DLD | c.789C>T (p.Arg263=) c.*463C>T (n.*463C>T) c.645C>T (p.Arg215=) c.720C>T (p.Arg240=) c.492C>T (p.Arg164=) | ClinVar |
| 7 | g.107915611A>C | CA368857135 | DLD | c.790A>C (p.Ile264Leu) c.*464A>C (n.*464A>C) c.646A>C (p.Ile216Leu) c.721A>C (p.Ile241Leu) c.493A>C (p.Ile165Leu) | |
| 7 | g.107915611A>G | CA368857137 | DLD | c.790A>G (p.Ile264Val) c.*464A>G (n.*464A>G) c.646A>G (p.Ile216Val) c.721A>G (p.Ile241Val) c.493A>G (p.Ile165Val) | |
| 7 | g.107915611A>T | CA368857139 | DLD | c.790A>T (p.Ile264Phe) c.*464A>T (n.*464A>T) c.646A>T (p.Ile216Phe) c.721A>T (p.Ile241Phe) c.493A>T (p.Ile165Phe) | |
| 7 | g.107915612T>A | CA368857140 | DLD | c.791T>A (p.Ile264Asn) c.*465T>A (n.*465T>A) c.647T>A (p.Ile216Asn) c.722T>A (p.Ile241Asn) c.494T>A (p.Ile165Asn) | |
| 7 | g.107915612T>C | CA368857142 | DLD | c.791T>C (p.Ile264Thr) c.*465T>C (n.*465T>C) c.647T>C (p.Ile216Thr) c.722T>C (p.Ile241Thr) c.494T>C (p.Ile165Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.107915612T>G | CA368857144 | DLD | c.791T>G (p.Ile264Ser) c.*465T>G (n.*465T>G) c.647T>G (p.Ile216Ser) c.722T>G (p.Ile241Ser) c.494T>G (p.Ile165Ser) | |
| 7 | g.107915612T= | CA1732859349 | DLD | c.791T= (p.Ile264=) c.*465T= (n.*465T=) c.647T= (p.Ile216=) c.722T= (p.Ile241=) c.494T= (p.Ile165=) | |
| 7 | g.107915613C>A | CA457108822 | DLD | c.792C>A (p.Ile264=) c.*466C>A (n.*466C>A) c.648C>A (p.Ile216=) c.723C>A (p.Ile241=) c.495C>A (p.Ile165=) | |
| 7 | g.107915613C>G | CA368857146 | DLD | c.792C>G (p.Ile264Met) c.*466C>G (n.*466C>G) c.648C>G (p.Ile216Met) c.723C>G (p.Ile241Met) c.495C>G (p.Ile165Met) | |
| 7 | g.107915613C>T | CA457108823 | DLD | c.792C>T (p.Ile264=) c.*466C>T (n.*466C>T) c.648C>T (p.Ile216=) c.723C>T (p.Ile241=) c.495C>T (p.Ile165=) | |
| 7 | g.107915614C>A | CA368857148 | DLD | c.793C>A (p.Leu265Ile) c.*467C>A (n.*467C>A) c.649C>A (p.Leu217Ile) c.724C>A (p.Leu242Ile) c.496C>A (p.Leu166Ile) | |
| 7 | g.107915614C>G | CA368857149 | DLD | c.793C>G (p.Leu265Val) c.*467C>G (n.*467C>G) c.649C>G (p.Leu217Val) c.724C>G (p.Leu242Val) c.496C>G (p.Leu166Val) | |
| 7 | g.107915614C>T | CA368857150 | DLD | c.793C>T (p.Leu265Phe) c.*467C>T (n.*467C>T) c.649C>T (p.Leu217Phe) c.724C>T (p.Leu242Phe) c.496C>T (p.Leu166Phe) | gnomAD v4 COSMIC COSMIC |
| 7 | g.107915615T>A | CA368857156 | DLD | c.794T>A (p.Leu265His) c.*468T>A (n.*468T>A) c.650T>A (p.Leu217His) c.725T>A (p.Leu242His) c.497T>A (p.Leu166His) | |
| 7 | g.107915615T>C | CA368857155 | DLD | c.794T>C (p.Leu265Pro) c.*468T>C (n.*468T>C) c.650T>C (p.Leu217Pro) c.725T>C (p.Leu242Pro) c.497T>C (p.Leu166Pro) | |
| 7 | g.107915615T>G | CA368857153 | DLD | c.794T>G (p.Leu265Arg) c.*468T>G (n.*468T>G) c.650T>G (p.Leu217Arg) c.725T>G (p.Leu242Arg) c.497T>G (p.Leu166Arg) | |
| 7 | g.107915616T>A | CA457108828 | DLD | c.795T>A (p.Leu265=) c.*469T>A (n.*469T>A) c.651T>A (p.Leu217=) c.726T>A (p.Leu242=) c.498T>A (p.Leu166=) | |
| 7 | g.107915616T>C | CA457108829 | DLD | c.795T>C (p.Leu265=) c.*469T>C (n.*469T>C) c.651T>C (p.Leu217=) c.726T>C (p.Leu242=) c.498T>C (p.Leu166=) | |
| 7 | g.107915616T>G | CA457108830 | DLD | c.795T>G (p.Leu265=) c.*469T>G (n.*469T>G) c.651T>G (p.Leu217=) c.726T>G (p.Leu242=) c.498T>G (p.Leu166=) | |
| 7 | g.107915617C>A | CA368857159 | DLD | c.796C>A (p.Gln266Lys) c.*470C>A (n.*470C>A) c.652C>A (p.Gln218Lys) c.727C>A (p.Gln243Lys) c.499C>A (p.Gln167Lys) | |
| 7 | g.107915617C>G | CA368857160 | DLD | c.796C>G (p.Gln266Glu) c.*470C>G (n.*470C>G) c.652C>G (p.Gln218Glu) c.727C>G (p.Gln243Glu) c.499C>G (p.Gln167Glu) | |
| 7 | g.107915617C>T | CA368857162 | DLD | c.796C>T (p.Gln266Ter) c.*470C>T (n.*470C>T) c.652C>T (p.Gln218Ter) c.727C>T (p.Gln243Ter) c.499C>T (p.Gln167Ter) | |
| 7 | g.107915618A>C | CA368857165 | DLD | c.797A>C (p.Gln266Pro) c.*471A>C (n.*471A>C) c.653A>C (p.Gln218Pro) c.728A>C (p.Gln243Pro) c.500A>C (p.Gln167Pro) | |
| 7 | g.107915618A>G | CA368857166 | DLD | c.797A>G (p.Gln266Arg) c.*471A>G (n.*471A>G) c.653A>G (p.Gln218Arg) c.728A>G (p.Gln243Arg) c.500A>G (p.Gln167Arg) | |
| 7 | g.107915618A>T | CA368857168 | DLD | c.797A>T (p.Gln266Leu) c.*471A>T (n.*471A>T) c.653A>T (p.Gln218Leu) c.728A>T (p.Gln243Leu) c.500A>T (p.Gln167Leu) | |
| 7 | g.107915622del | CA2580076200 | DLD | c.801del (p.Lys267AsnfsTer8) c.*475del (n.*475del) c.657del (p.Lys219AsnfsTer8) c.732del (p.Lys244AsnfsTer8) c.504del (p.Lys168AsnfsTer8) | ClinVar |
| 7 | g.107915619A>C | CA368857169 | DLD | c.798A>C (p.Gln266His) c.*472A>C (n.*472A>C) c.654A>C (p.Gln218His) c.729A>C (p.Gln243His) c.501A>C (p.Gln167His) | |
| 7 | g.107915619A>G | CA457108834 | DLD | c.798A>G (p.Gln266=) c.*472A>G (n.*472A>G) c.654A>G (p.Gln218=) c.729A>G (p.Gln243=) c.501A>G (p.Gln167=) | gnomAD v4 |
| 7 | g.107915619A>T | CA368857170 | DLD | c.798A>T (p.Gln266His) c.*472A>T (n.*472A>T) c.654A>T (p.Gln218His) c.729A>T (p.Gln243His) c.501A>T (p.Gln167His) | |
| 7 | g.107915620A>C | CA368857171 | DLD | c.799A>C (p.Lys267Gln) c.*473A>C (n.*473A>C) c.655A>C (p.Lys219Gln) c.730A>C (p.Lys244Gln) c.502A>C (p.Lys168Gln) | |
| 7 | g.107915620A>G | CA368857172 | DLD | c.799A>G (p.Lys267Glu) c.*473A>G (n.*473A>G) c.655A>G (p.Lys219Glu) c.730A>G (p.Lys244Glu) c.502A>G (p.Lys168Glu) | |
| 7 | g.107915620A>T | CA368857173 | DLD | c.799A>T (p.Lys267Ter) c.*473A>T (n.*473A>T) c.655A>T (p.Lys219Ter) c.730A>T (p.Lys244Ter) c.502A>T (p.Lys168Ter) | |
| 7 | g.107915621A>C | CA368857175 | DLD | c.800A>C (p.Lys267Thr) c.*474A>C (n.*474A>C) c.656A>C (p.Lys219Thr) c.731A>C (p.Lys244Thr) c.503A>C (p.Lys168Thr) | |
| 7 | g.107915621A>G | CA368857176 | DLD | c.800A>G (p.Lys267Arg) c.*474A>G (n.*474A>G) c.656A>G (p.Lys219Arg) c.731A>G (p.Lys244Arg) c.503A>G (p.Lys168Arg) | |
| 7 | g.107915621A>T | CA368857174 | DLD | c.800A>T (p.Lys267Ile) c.*474A>T (n.*474A>T) c.656A>T (p.Lys219Ile) c.731A>T (p.Lys244Ile) c.503A>T (p.Lys168Ile) | |
| 7 | g.107915622A>C | CA368857177 | DLD | c.801A>C (p.Lys267Asn) c.*475A>C (n.*475A>C) c.657A>C (p.Lys219Asn) c.732A>C (p.Lys244Asn) c.504A>C (p.Lys168Asn) | |
| 7 | g.107915622A>G | CA457108838 | DLD | c.801A>G (p.Lys267=) c.*475A>G (n.*475A>G) c.657A>G (p.Lys219=) c.732A>G (p.Lys244=) c.504A>G (p.Lys168=) | |
| 7 | g.107915622A>T | CA368857178 | DLD | c.801A>T (p.Lys267Asn) c.*475A>T (n.*475A>T) c.657A>T (p.Lys219Asn) c.732A>T (p.Lys244Asn) c.504A>T (p.Lys168Asn) | |
| 7 | g.107915623C>A | CA368857179 | DLD | c.802C>A (p.Gln268Lys) c.*476C>A (n.*476C>A) c.658C>A (p.Gln220Lys) c.733C>A (p.Gln245Lys) c.505C>A (p.Gln169Lys) | |
| 7 | g.107915623C= | CA1732859351 | DLD | c.802C= (p.Gln268=) c.*476C= (n.*476C=) c.658C= (p.Gln220=) c.733C= (p.Gln245=) c.505C= (p.Gln169=) | |
| 7 | g.107915623C>G | CA368857180 | DLD | c.802C>G (p.Gln268Glu) c.*476C>G (n.*476C>G) c.658C>G (p.Gln220Glu) c.733C>G (p.Gln245Glu) c.505C>G (p.Gln169Glu) | |
| 7 | g.107915623C>T | CA368857181 | DLD | c.802C>T (p.Gln268Ter) c.*476C>T (n.*476C>T) c.658C>T (p.Gln220Ter) c.733C>T (p.Gln245Ter) c.505C>T (p.Gln169Ter) | ClinVar dbSNP gnomAD v4 |
| 7 | g.107915623_107915625delinsCAG | CA1732859350 | DLD | c.802_804delinsCAG (p.Gln268=) c.*476_*478delinsCAG (n.*476_*478delinsCAG) c.658_660delinsCAG (p.Gln220=) c.733_735delinsCAG (p.Gln245=) c.505_507delinsCAG (p.Gln169=) | |
| 7 | g.107915624A= | CA1732859352 | DLD | c.803A= (p.Gln268=) c.*477A= (n.*477A=) c.659A= (p.Gln220=) c.734A= (p.Gln245=) c.506A= (p.Gln169=) | |
| 7 | g.107915624A>C | CA368857184 | DLD | c.803A>C (p.Gln268Pro) c.*477A>C (n.*477A>C) c.659A>C (p.Gln220Pro) c.734A>C (p.Gln245Pro) c.506A>C (p.Gln169Pro) | |
| 7 | g.107915624A>G | CA368857183 | DLD | c.803A>G (p.Gln268Arg) c.*477A>G (n.*477A>G) c.659A>G (p.Gln220Arg) c.734A>G (p.Gln245Arg) c.506A>G (p.Gln169Arg) | ClinVar gnomAD v4 |
| 7 | g.107915624A>T | CA368857182 | DLD | c.803A>T (p.Gln268Leu) c.*477A>T (n.*477A>T) c.659A>T (p.Gln220Leu) c.734A>T (p.Gln245Leu) c.506A>T (p.Gln169Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.107915624_107915625del | CA4434560 | DLD | c.803_804del (p.Gln268ArgfsTer3) c.*477_*478del (n.*477_*478del) c.659_660del (p.Gln220ArgfsTer3) c.734_735del (p.Gln245ArgfsTer3) c.506_507del (p.Gln169ArgfsTer3) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.107915625G>A | CA457108845 | DLD | c.804G>A (p.Gln268=) c.*478G>A (n.*478G>A) c.660G>A (p.Gln220=) c.735G>A (p.Gln245=) c.507G>A (p.Gln169=) | |
| 7 | g.107915625G>C | CA368857185 | DLD | c.804G>C (p.Gln268His) c.*478G>C (n.*478G>C) c.660G>C (p.Gln220His) c.735G>C (p.Gln245His) c.507G>C (p.Gln169His) | |
| 7 | g.107915625G>T | CA368857186 | DLD | c.804G>T (p.Gln268His) c.*478G>T (n.*478G>T) c.660G>T (p.Gln220His) c.735G>T (p.Gln245His) c.507G>T (p.Gln169His) | |
| 7 | g.107915628del | CA2684464916 | DLD | c.807del (p.Phe270LeufsTer5) c.*481del (n.*481del) c.663del (p.Phe222LeufsTer5) c.738del (p.Phe247LeufsTer5) c.510del (p.Phe171LeufsTer5) | gnomAD v4 |
| 7 | g.107915626G>A | CA368857187 | DLD | c.805G>A (p.Gly269Arg) c.*479G>A (n.*479G>A) c.661G>A (p.Gly221Arg) c.736G>A (p.Gly246Arg) c.508G>A (p.Gly170Arg) | |
| 7 | g.107915626G>C | CA164257720 | DLD | c.805G>C (p.Gly269Arg) c.*479G>C (n.*479G>C) c.661G>C (p.Gly221Arg) c.736G>C (p.Gly246Arg) c.508G>C (p.Gly170Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107915626G= | CA1732859353 | DLD | c.805G= (p.Gly269=) c.*479G= (n.*479G=) c.661G= (p.Gly221=) c.736G= (p.Gly246=) c.508G= (p.Gly170=) | |
| 7 | g.107915626G>T | CA368857188 | DLD | c.805G>T (p.Gly269Trp) c.*479G>T (n.*479G>T) c.661G>T (p.Gly221Trp) c.736G>T (p.Gly246Trp) c.508G>T (p.Gly170Trp) | |
| 7 | g.107915627G>A | CA368857189 | DLD | c.806G>A (p.Gly269Glu) c.*480G>A (n.*480G>A) c.662G>A (p.Gly221Glu) c.737G>A (p.Gly246Glu) c.509G>A (p.Gly170Glu) | |
| 7 | g.107915627G>C | CA368857191 | DLD | c.806G>C (p.Gly269Ala) c.*480G>C (n.*480G>C) c.662G>C (p.Gly221Ala) c.737G>C (p.Gly246Ala) c.509G>C (p.Gly170Ala) | |
| 7 | g.107915627G>T | CA368857190 | DLD | c.806G>T (p.Gly269Val) c.*480G>T (n.*480G>T) c.662G>T (p.Gly221Val) c.737G>T (p.Gly246Val) c.509G>T (p.Gly170Val) | |
| 7 | g.107915628G>A | CA457108848 | DLD | c.807G>A (p.Gly269=) c.*481G>A (n.*481G>A) c.663G>A (p.Gly221=) c.738G>A (p.Gly246=) c.510G>A (p.Gly170=) | ClinVar gnomAD v4 |
| 7 | g.107915628G>C | CA457108850 | DLD | c.807G>C (p.Gly269=) c.*481G>C (n.*481G>C) c.663G>C (p.Gly221=) c.738G>C (p.Gly246=) c.510G>C (p.Gly170=) | |
| 7 | g.107915628G= | CA1732859354 | DLD | c.807G= (p.Gly269=) c.*481G= (n.*481G=) c.663G= (p.Gly221=) c.738G= (p.Gly246=) c.510G= (p.Gly170=) | |
| 7 | g.107915628G>T | CA164257724 | DLD | c.807G>T (p.Gly269=) c.*481G>T (n.*481G>T) c.663G>T (p.Gly221=) c.738G>T (p.Gly246=) c.510G>T (p.Gly170=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107915629T>A | CA368857192 | DLD | c.808T>A (p.Phe270Ile) c.*482T>A (n.*482T>A) c.664T>A (p.Phe222Ile) c.739T>A (p.Phe247Ile) c.511T>A (p.Phe171Ile) | |
| 7 | g.107915629T>C | CA4434561 | DLD | c.808T>C (p.Phe270Leu) c.*482T>C (n.*482T>C) c.664T>C (p.Phe222Leu) c.739T>C (p.Phe247Leu) c.511T>C (p.Phe171Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107915629T>G | CA368857193 | DLD | c.808T>G (p.Phe270Val) c.*482T>G (n.*482T>G) c.664T>G (p.Phe222Val) c.739T>G (p.Phe247Val) c.511T>G (p.Phe171Val) | |
| 7 | g.107915629T= | CA1732859355 | DLD | c.808T= (p.Phe270=) c.*482T= (n.*482T=) c.664T= (p.Phe222=) c.739T= (p.Phe247=) c.511T= (p.Phe171=) | |
| 7 | g.107915630T>A | CA368857194 | DLD | c.809T>A (p.Phe270Tyr) c.*483T>A (n.*483T>A) c.665T>A (p.Phe222Tyr) c.740T>A (p.Phe247Tyr) c.512T>A (p.Phe171Tyr) | |
| 7 | g.107915630T>C | CA368857195 | DLD | c.809T>C (p.Phe270Ser) c.*483T>C (n.*483T>C) c.665T>C (p.Phe222Ser) c.740T>C (p.Phe247Ser) c.512T>C (p.Phe171Ser) | gnomAD v4 |
| 7 | g.107915630T>G | CA368857196 | DLD | c.809T>G (p.Phe270Cys) c.*483T>G (n.*483T>G) c.665T>G (p.Phe222Cys) c.740T>G (p.Phe247Cys) c.512T>G (p.Phe171Cys) | |
| 7 | g.107915631T>A | CA368857197 | DLD | c.810T>A (p.Phe270Leu) c.*484T>A (n.*484T>A) c.666T>A (p.Phe222Leu) c.741T>A (p.Phe247Leu) c.513T>A (p.Phe171Leu) | |
| 7 | g.107915631T>C | CA457108853 | DLD | c.810T>C (p.Phe270=) c.*484T>C (n.*484T>C) c.666T>C (p.Phe222=) c.741T>C (p.Phe247=) c.513T>C (p.Phe171=) | |
| 7 | g.107915631T>G | CA368857198 | DLD | c.810T>G (p.Phe270Leu) c.*484T>G (n.*484T>G) c.666T>G (p.Phe222Leu) c.741T>G (p.Phe247Leu) c.513T>G (p.Phe171Leu) | |
| 7 | g.107915632A>C | CA368857199 | DLD | c.811A>C (p.Lys271Gln) c.*485A>C (n.*485A>C) c.667A>C (p.Lys223Gln) c.742A>C (p.Lys248Gln) c.514A>C (p.Lys172Gln) | |
| 7 | g.107915632A>G | CA368857200 | DLD | c.811A>G (p.Lys271Glu) c.*485A>G (n.*485A>G) c.667A>G (p.Lys223Glu) c.742A>G (p.Lys248Glu) c.514A>G (p.Lys172Glu) | |
| 7 | g.107915632A>T | CA368857201 | DLD | c.811A>T (p.Lys271Ter) c.*485A>T (n.*485A>T) c.667A>T (p.Lys223Ter) c.742A>T (p.Lys248Ter) c.514A>T (p.Lys172Ter) | |
| 7 | g.107915634del | CA2697557535 | DLD | c.813del (p.Lys271AsnfsTer4) c.*487del (n.*487del) c.669del (p.Lys223AsnfsTer4) c.744del (p.Lys248AsnfsTer4) c.516del (p.Lys172AsnfsTer4) | ClinVar |
| 7 | g.107915633A>C | CA368857204 | DLD | c.812A>C (p.Lys271Thr) c.*486A>C (n.*486A>C) c.668A>C (p.Lys223Thr) c.743A>C (p.Lys248Thr) c.515A>C (p.Lys172Thr) | |
| 7 | g.107915633A>G | CA368857203 | DLD | c.812A>G (p.Lys271Arg) c.*486A>G (n.*486A>G) c.668A>G (p.Lys223Arg) c.743A>G (p.Lys248Arg) c.515A>G (p.Lys172Arg) | |
| 7 | g.107915633A>T | CA368857202 | DLD | c.812A>T (p.Lys271Ile) c.*486A>T (n.*486A>T) c.668A>T (p.Lys223Ile) c.743A>T (p.Lys248Ile) c.515A>T (p.Lys172Ile) | |
| 7 | g.107915634A>C | CA368857205 | DLD | c.813A>C (p.Lys271Asn) c.*487A>C (n.*487A>C) c.669A>C (p.Lys223Asn) c.744A>C (p.Lys248Asn) c.516A>C (p.Lys172Asn) | |
| 7 | g.107915634A>G | CA457108858 | DLD | c.813A>G (p.Lys271=) c.*487A>G (n.*487A>G) c.669A>G (p.Lys223=) c.744A>G (p.Lys248=) c.516A>G (p.Lys172=) | |
| 7 | g.107915634A>T | CA368857206 | DLD | c.813A>T (p.Lys271Asn) c.*487A>T (n.*487A>T) c.669A>T (p.Lys223Asn) c.744A>T (p.Lys248Asn) c.516A>T (p.Lys172Asn) | |
| 7 | g.107915635T>A | CA368857207 | DLD | c.814T>A (p.Phe272Ile) c.*488T>A (n.*488T>A) c.670T>A (p.Phe224Ile) c.745T>A (p.Phe249Ile) c.517T>A (p.Phe173Ile) | |
| 7 | g.107915635T>C | CA164257734 | DLD | c.814T>C (p.Phe272Leu) c.*488T>C (n.*488T>C) c.670T>C (p.Phe224Leu) c.745T>C (p.Phe249Leu) c.517T>C (p.Phe173Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107915635T>G | CA368857208 | DLD | c.814T>G (p.Phe272Val) c.*488T>G (n.*488T>G) c.670T>G (p.Phe224Val) c.745T>G (p.Phe249Val) c.517T>G (p.Phe173Val) | |
| 7 | g.107915635T= | CA1732859356 | DLD | c.814T= (p.Phe272=) c.*488T= (n.*488T=) c.670T= (p.Phe224=) c.745T= (p.Phe249=) c.517T= (p.Phe173=) | |
| 7 | g.107915636T>A | CA368857209 | DLD | c.815T>A (p.Phe272Tyr) c.*489T>A (n.*489T>A) c.671T>A (p.Phe224Tyr) c.746T>A (p.Phe249Tyr) c.518T>A (p.Phe173Tyr) | |
| 7 | g.107915636T>C | CA368857210 | DLD | c.815T>C (p.Phe272Ser) c.*489T>C (n.*489T>C) c.671T>C (p.Phe224Ser) c.746T>C (p.Phe249Ser) c.518T>C (p.Phe173Ser) | |
| 7 | g.107915636T>G | CA368857211 | DLD | c.815T>G (p.Phe272Cys) c.*489T>G (n.*489T>G) c.671T>G (p.Phe224Cys) c.746T>G (p.Phe249Cys) c.518T>G (p.Phe173Cys) | |
| 7 | g.107915636T= | CA1732859357 | DLD | c.815T= (p.Phe272=) c.*489T= (n.*489T=) c.671T= (p.Phe224=) c.746T= (p.Phe249=) c.518T= (p.Phe173=) | |
| 7 | g.107915636_107915637insAAAAAAACCCAA | CA577199129 | DLD | c.815_816insAAAAAAACCCAA (p.Phe272delinsLeuLysLysProAsn) c.*489_*490insAAAAAAACCCAA (n.*489_*490insAAAAAAACCCAA) c.671_672insAAAAAAACCCAA (p.Phe224delinsLeuLysLysProAsn) c.746_747insAAAAAAACCCAA (p.Phe249delinsLeuLysLysProAsn) c.518_519insAAAAAAACCCAA (p.Phe173delinsLeuLysLysProAsn) | dbSNP gnomAD v2 |
| 7 | g.107915637T>A | CA368857212 | DLD | c.816T>A (p.Phe272Leu) c.*490T>A (n.*490T>A) c.672T>A (p.Phe224Leu) c.747T>A (p.Phe249Leu) c.519T>A (p.Phe173Leu) | |
| 7 | g.107915637T>C | CA457108862 | DLD | c.816T>C (p.Phe272=) c.*490T>C (n.*490T>C) c.672T>C (p.Phe224=) c.747T>C (p.Phe249=) c.519T>C (p.Phe173=) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.107915637T>G | CA368857213 | DLD | c.816T>G (p.Phe272Leu) c.*490T>G (n.*490T>G) c.672T>G (p.Phe224Leu) c.747T>G (p.Phe249Leu) c.519T>G (p.Phe173Leu) | |
| 7 | g.107915637T= | CA1732859358 | DLD | c.816T= (p.Phe272=) c.*490T= (n.*490T=) c.672T= (p.Phe224=) c.747T= (p.Phe249=) c.519T= (p.Phe173=) | |
| 7 | g.107915638A>C | CA368857214 | DLD | c.817A>C (p.Lys273Gln) c.*491A>C (n.*491A>C) c.673A>C (p.Lys225Gln) c.748A>C (p.Lys250Gln) c.520A>C (p.Lys174Gln) | |
| 7 | g.107915638A>G | CA368857215 | DLD | c.817A>G (p.Lys273Glu) c.*491A>G (n.*491A>G) c.673A>G (p.Lys225Glu) c.748A>G (p.Lys250Glu) c.520A>G (p.Lys174Glu) | |
| 7 | g.107915638A>T | CA368857216 | DLD | c.817A>T (p.Lys273Ter) c.*491A>T (n.*491A>T) c.673A>T (p.Lys225Ter) c.748A>T (p.Lys250Ter) c.520A>T (p.Lys174Ter) | |
| 7 | g.107915639A>C | CA368857217 | DLD | c.818A>C (p.Lys273Thr) c.*492A>C (n.*492A>C) c.674A>C (p.Lys225Thr) c.749A>C (p.Lys250Thr) c.521A>C (p.Lys174Thr) | |
| 7 | g.107915639A>G | CA368857218 | DLD | c.818A>G (p.Lys273Arg) c.*492A>G (n.*492A>G) c.674A>G (p.Lys225Arg) c.749A>G (p.Lys250Arg) c.521A>G (p.Lys174Arg) | |
| 7 | g.107915639A>T | CA368857219 | DLD | c.818A>T (p.Lys273Ile) c.*492A>T (n.*492A>T) c.674A>T (p.Lys225Ile) c.749A>T (p.Lys250Ile) c.521A>T (p.Lys174Ile) | |
| 7 | g.107915640A= | CA1732859359 | DLD | c.819A= (p.Lys273=) c.*493A= (n.*493A=) c.675A= (p.Lys225=) c.750A= (p.Lys250=) c.522A= (p.Lys174=) | |
| 7 | g.107915640A>C | CA368857224 | DLD | c.819A>C (p.Lys273Asn) c.*493A>C (n.*493A>C) c.675A>C (p.Lys225Asn) c.750A>C (p.Lys250Asn) c.522A>C (p.Lys174Asn) | |
| 7 | g.107915640A>G | CA457108863 | DLD | c.819A>G (p.Lys273=) c.*493A>G (n.*493A>G) c.675A>G (p.Lys225=) c.750A>G (p.Lys250=) c.522A>G (p.Lys174=) | |
| 7 | g.107915640A>T | CA368857222 | DLD | c.819A>T (p.Lys273Asn) c.*493A>T (n.*493A>T) c.675A>T (p.Lys225Asn) c.750A>T (p.Lys250Asn) c.522A>T (p.Lys174Asn) | |
| 7 | g.107915641T>A | CA368857226 | DLD | c.820T>A (p.Leu274Met) c.*494T>A (n.*494T>A) c.676T>A (p.Leu226Met) c.751T>A (p.Leu251Met) c.523T>A (p.Leu175Met) | |
| 7 | g.107915641T>C | CA457108866 | DLD | c.820T>C (p.Leu274=) c.*494T>C (n.*494T>C) c.676T>C (p.Leu226=) c.751T>C (p.Leu251=) c.523T>C (p.Leu175=) | |
| 7 | g.107915641T>G | CA368857228 | DLD | c.820T>G (p.Leu274Val) c.*494T>G (n.*494T>G) c.676T>G (p.Leu226Val) c.751T>G (p.Leu251Val) c.523T>G (p.Leu175Val) | |
| 7 | g.107915642dup | CA4434562 | DLD | c.821dup (p.Leu274PhefsTer17) c.*495dup (n.*495dup) c.677dup (p.Leu226PhefsTer17) c.752dup (p.Leu251PhefsTer17) c.524dup (p.Leu175PhefsTer17) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107915642T>A | CA368857230 | DLD | c.821T>A (p.Leu274Ter) c.*495T>A (n.*495T>A) c.677T>A (p.Leu226Ter) c.752T>A (p.Leu251Ter) c.524T>A (p.Leu175Ter) | |
| 7 | g.107915642T>C | CA368857231 | DLD | c.821T>C (p.Leu274Ser) c.*495T>C (n.*495T>C) c.677T>C (p.Leu226Ser) c.752T>C (p.Leu251Ser) c.524T>C (p.Leu175Ser) | gnomAD v4 |
| 7 | g.107915642T>G | CA368857233 | DLD | c.821T>G (p.Leu274Trp) c.*495T>G (n.*495T>G) c.677T>G (p.Leu226Trp) c.752T>G (p.Leu251Trp) c.524T>G (p.Leu175Trp) | |
| 7 | g.107915643G>A | CA457108868 | DLD | c.822G>A (p.Leu274=) c.*496G>A (n.*496G>A) c.678G>A (p.Leu226=) c.753G>A (p.Leu251=) c.525G>A (p.Leu175=) | |
| 7 | g.107915643G>C | CA368857236 | DLD | c.822G>C (p.Leu274Phe) c.*496G>C (n.*496G>C) c.678G>C (p.Leu226Phe) c.753G>C (p.Leu251Phe) c.525G>C (p.Leu175Phe) | |
| 7 | g.107915643G>T | CA368857237 | DLD | c.822G>T (p.Leu274Phe) c.*496G>T (n.*496G>T) c.678G>T (p.Leu226Phe) c.753G>T (p.Leu251Phe) c.525G>T (p.Leu175Phe) | |
| 7 | g.107915644A>C | CA368857239 | DLD | c.823A>C (p.Asn275His) c.*497A>C (n.*497A>C) c.679A>C (p.Asn227His) c.754A>C (p.Asn252His) c.526A>C (p.Asn176His) | |
| 7 | g.107915644A>G | CA368857241 | DLD | c.823A>G (p.Asn275Asp) c.*497A>G (n.*497A>G) c.679A>G (p.Asn227Asp) c.754A>G (p.Asn252Asp) c.526A>G (p.Asn176Asp) | |
| 7 | g.107915644A>T | CA368857242 | DLD | c.823A>T (p.Asn275Tyr) c.*497A>T (n.*497A>T) c.679A>T (p.Asn227Tyr) c.754A>T (p.Asn252Tyr) c.526A>T (p.Asn176Tyr) | |
| 7 | g.107915645A>C | CA368857246 | DLD | c.824A>C (p.Asn275Thr) c.*498A>C (n.*498A>C) c.680A>C (p.Asn227Thr) c.755A>C (p.Asn252Thr) c.527A>C (p.Asn176Thr) | |
| 7 | g.107915645A>G | CA368857247 | DLD | c.824A>G (p.Asn275Ser) c.*498A>G (n.*498A>G) c.680A>G (p.Asn227Ser) c.755A>G (p.Asn252Ser) c.527A>G (p.Asn176Ser) | |
| 7 | g.107915645A>T | CA368857244 | DLD | c.824A>T (p.Asn275Ile) c.*498A>T (n.*498A>T) c.680A>T (p.Asn227Ile) c.755A>T (p.Asn252Ile) c.527A>T (p.Asn176Ile) | |
| 7 | g.107915646T>A | CA368857249 | DLD | c.825T>A (p.Asn275Lys) c.*499T>A (n.*499T>A) c.681T>A (p.Asn227Lys) c.756T>A (p.Asn252Lys) c.528T>A (p.Asn176Lys) | |
| 7 | g.107915646T>C | CA457108875 | DLD | c.825T>C (p.Asn275=) c.*499T>C (n.*499T>C) c.681T>C (p.Asn227=) c.756T>C (p.Asn252=) c.528T>C (p.Asn176=) | |
| 7 | g.107915646T>G | CA368857251 | DLD | c.825T>G (p.Asn275Lys) c.*499T>G (n.*499T>G) c.681T>G (p.Asn227Lys) c.756T>G (p.Asn252Lys) c.528T>G (p.Asn176Lys) | |
| 7 | g.107915647A= | CA1732859360 | DLD | c.826A= (p.Thr276=) c.*500A= (n.*500A=) c.682A= (p.Thr228=) c.757A= (p.Thr253=) c.529A= (p.Thr177=) | |
| 7 | g.107915647A>C | CA368857253 | DLD | c.826A>C (p.Thr276Pro) c.*500A>C (n.*500A>C) c.682A>C (p.Thr228Pro) c.757A>C (p.Thr253Pro) c.529A>C (p.Thr177Pro) | |
| 7 | g.107915647A>G | CA368857255 | DLD | c.826A>G (p.Thr276Ala) c.*500A>G (n.*500A>G) c.682A>G (p.Thr228Ala) c.757A>G (p.Thr253Ala) c.529A>G (p.Thr177Ala) | gnomAD v4 |
| 7 | g.107915647A>T | CA312468 | DLD | c.826A>T (p.Thr276Ser) c.*500A>T (n.*500A>T) c.682A>T (p.Thr228Ser) c.757A>T (p.Thr253Ser) c.529A>T (p.Thr177Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107915648C>A | CA368857258 | DLD | c.827C>A (p.Thr276Lys) c.*501C>A (n.*501C>A) c.683C>A (p.Thr228Lys) c.758C>A (p.Thr253Lys) c.530C>A (p.Thr177Lys) | |
| 7 | g.107915648C>G | CA368857260 | DLD | c.827C>G (p.Thr276Arg) c.*501C>G (n.*501C>G) c.683C>G (p.Thr228Arg) c.758C>G (p.Thr253Arg) c.530C>G (p.Thr177Arg) | gnomAD v4 |
| 7 | g.107915648C>T | CA368857261 | DLD | c.827C>T (p.Thr276Ile) c.*501C>T (n.*501C>T) c.683C>T (p.Thr228Ile) c.758C>T (p.Thr253Ile) c.530C>T (p.Thr177Ile) | gnomAD v4 |
| 7 | g.107915649A= | CA1732859361 | DLD | c.828A= (p.Thr276=) c.*502A= (n.*502A=) c.684A= (p.Thr228=) c.759A= (p.Thr253=) c.531A= (p.Thr177=) | |
| 7 | g.107915649A>C | CA457108880 | DLD | c.828A>C (p.Thr276=) c.*502A>C (n.*502A>C) c.684A>C (p.Thr228=) c.759A>C (p.Thr253=) c.531A>C (p.Thr177=) | |
| 7 | g.107915649A>G | CA457108881 | DLD | c.828A>G (p.Thr276=) c.*502A>G (n.*502A>G) c.684A>G (p.Thr228=) c.759A>G (p.Thr253=) c.531A>G (p.Thr177=) | ClinVar dbSNP |
| 7 | g.107915649A>T | CA457108884 | DLD | c.828A>T (p.Thr276=) c.*502A>T (n.*502A>T) c.684A>T (p.Thr228=) c.759A>T (p.Thr253=) c.531A>T (p.Thr177=) | |
| 7 | g.107915650A>C | CA368857264 | DLD | c.829A>C (p.Lys277Gln) c.*503A>C (n.*503A>C) c.685A>C (p.Lys229Gln) c.760A>C (p.Lys254Gln) c.532A>C (p.Lys178Gln) | |
| 7 | g.107915650A>G | CA368857266 | DLD | c.829A>G (p.Lys277Glu) c.*503A>G (n.*503A>G) c.685A>G (p.Lys229Glu) c.760A>G (p.Lys254Glu) c.532A>G (p.Lys178Glu) | gnomAD v4 |
| 7 | g.107915650A>T | CA368857267 | DLD | c.829A>T (p.Lys277Ter) c.*503A>T (n.*503A>T) c.685A>T (p.Lys229Ter) c.760A>T (p.Lys254Ter) c.532A>T (p.Lys178Ter) | ClinVar |
| 7 | g.107915651A>C | CA368857271 | DLD | c.830A>C (p.Lys277Thr) c.*504A>C (n.*504A>C) c.686A>C (p.Lys229Thr) c.761A>C (p.Lys254Thr) c.533A>C (p.Lys178Thr) | |
| 7 | g.107915651A>G | CA368857273 | DLD | c.830A>G (p.Lys277Arg) c.*504A>G (n.*504A>G) c.686A>G (p.Lys229Arg) c.761A>G (p.Lys254Arg) c.533A>G (p.Lys178Arg) | |
| 7 | g.107915651A>T | CA368857270 | DLD | c.830A>T (p.Lys277Met) c.*504A>T (n.*504A>T) c.686A>T (p.Lys229Met) c.761A>T (p.Lys254Met) c.533A>T (p.Lys178Met) | |
| 7 | g.107915652G>A | CA457108889 | DLD | c.831G>A (p.Lys277=) c.*505G>A (n.*505G>A) c.687G>A (p.Lys229=) c.762G>A (p.Lys254=) c.534G>A (p.Lys178=) | |
| 7 | g.107915652G>C | CA368857275 | DLD | c.831G>C (p.Lys277Asn) c.*505G>C (n.*505G>C) c.687G>C (p.Lys229Asn) c.762G>C (p.Lys254Asn) c.534G>C (p.Lys178Asn) | |
| 7 | g.107915652G= | CA1732859362 | DLD | c.831G= (p.Lys277=) c.*505G= (n.*505G=) c.687G= (p.Lys229=) c.762G= (p.Lys254=) c.534G= (p.Lys178=) | |
| 7 | g.107915652G>T | CA368857277 | DLD | c.831G>T (p.Lys277Asn) c.*505G>T (n.*505G>T) c.687G>T (p.Lys229Asn) c.762G>T (p.Lys254Asn) c.534G>T (p.Lys178Asn) | ClinVar dbSNP gnomAD v4 |
| 7 | g.107915653G>A | CA368857279 | DLD | c.832G>A (p.Val278Ile) c.*506G>A (n.*506G>A) c.688G>A (p.Val230Ile) c.763G>A (p.Val255Ile) c.535G>A (p.Val179Ile) | |
| 7 | g.107915653G>C | CA368857281 | DLD | c.832G>C (p.Val278Leu) c.*506G>C (n.*506G>C) c.688G>C (p.Val230Leu) c.763G>C (p.Val255Leu) c.535G>C (p.Val179Leu) | |
| 7 | g.107915653G>T | CA368857282 | DLD | c.832G>T (p.Val278Phe) c.*506G>T (n.*506G>T) c.688G>T (p.Val230Phe) c.763G>T (p.Val255Phe) c.535G>T (p.Val179Phe) | |
| 7 | g.107915654T>A | CA368857287 | DLD | c.833T>A (p.Val278Asp) c.*507T>A (n.*507T>A) c.689T>A (p.Val230Asp) c.764T>A (p.Val255Asp) c.536T>A (p.Val179Asp) | |
| 7 | g.107915654T>C | CA368857284 | DLD | c.833T>C (p.Val278Ala) c.*507T>C (n.*507T>C) c.689T>C (p.Val230Ala) c.764T>C (p.Val255Ala) c.536T>C (p.Val179Ala) | |
| 7 | g.107915654T>G | CA368857286 | DLD | c.833T>G (p.Val278Gly) c.*507T>G (n.*507T>G) c.689T>G (p.Val230Gly) c.764T>G (p.Val255Gly) c.536T>G (p.Val179Gly) | |
| 7 | g.107915655T>A | CA457108893 | DLD | c.834T>A (p.Val278=) c.*508T>A (n.*508T>A) c.690T>A (p.Val230=) c.765T>A (p.Val255=) c.537T>A (p.Val179=) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.107915655T>C | CA457108894 | DLD | c.834T>C (p.Val278=) c.*508T>C (n.*508T>C) c.690T>C (p.Val230=) c.765T>C (p.Val255=) c.537T>C (p.Val179=) | ClinVar dbSNP gnomAD v4 |
| 7 | g.107915655T>G | CA457108895 | DLD | c.834T>G (p.Val278=) c.*508T>G (n.*508T>G) c.690T>G (p.Val230=) c.765T>G (p.Val255=) c.537T>G (p.Val179=) | gnomAD v4 |
| 7 | g.107915655T= | CA1732859363 | DLD | c.834T= (p.Val278=) c.*508T= (n.*508T=) c.690T= (p.Val230=) c.765T= (p.Val255=) c.537T= (p.Val179=) | |
| 7 | g.107915656A>C | CA368857289 | DLD | c.835A>C (p.Thr279Pro) c.*509A>C (n.*509A>C) c.691A>C (p.Thr231Pro) c.766A>C (p.Thr256Pro) c.538A>C (p.Thr180Pro) | |
| 7 | g.107915656A>G | CA368857291 | DLD | c.835A>G (p.Thr279Ala) c.*509A>G (n.*509A>G) c.691A>G (p.Thr231Ala) c.766A>G (p.Thr256Ala) c.538A>G (p.Thr180Ala) | |
| 7 | g.107915656A>T | CA368857293 | DLD | c.835A>T (p.Thr279Ser) c.*509A>T (n.*509A>T) c.691A>T (p.Thr231Ser) c.766A>T (p.Thr256Ser) c.538A>T (p.Thr180Ser) | |
| 7 | g.107915657C>A | CA368857294 | DLD | c.836C>A (p.Thr279Asn) c.*510C>A (n.*510C>A) c.692C>A (p.Thr231Asn) c.767C>A (p.Thr256Asn) c.539C>A (p.Thr180Asn) | |
| 7 | g.107915657C= | CA1732859364 | DLD | c.836C= (p.Thr279=) c.*510C= (n.*510C=) c.692C= (p.Thr231=) c.767C= (p.Thr256=) c.539C= (p.Thr180=) | |
| 7 | g.107915657C>G | CA368857296 | DLD | c.836C>G (p.Thr279Ser) c.*510C>G (n.*510C>G) c.692C>G (p.Thr231Ser) c.767C>G (p.Thr256Ser) c.539C>G (p.Thr180Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.107915657C>T | CA368857298 | DLD | c.836C>T (p.Thr279Ile) c.*510C>T (n.*510C>T) c.692C>T (p.Thr231Ile) c.767C>T (p.Thr256Ile) c.539C>T (p.Thr180Ile) | gnomAD v4 |
| 7 | g.107915658T>A | CA457108897 | DLD | c.837T>A (p.Thr279=) c.*511T>A (n.*511T>A) c.693T>A (p.Thr231=) c.768T>A (p.Thr256=) c.540T>A (p.Thr180=) | |
| 7 | g.107915658T>C | CA457108899 | DLD | c.837T>C (p.Thr279=) c.*511T>C (n.*511T>C) c.693T>C (p.Thr231=) c.768T>C (p.Thr256=) c.540T>C (p.Thr180=) | gnomAD v4 |
| 7 | g.107915658T>G | CA457108900 | DLD | c.837T>G (p.Thr279=) c.*511T>G (n.*511T>G) c.693T>G (p.Thr231=) c.768T>G (p.Thr256=) c.540T>G (p.Thr180=) | |
| 7 | g.107915659G>A | CA368857301 | DLD | c.838G>A (p.Gly280Ser) c.*512G>A (n.*512G>A) c.694G>A (p.Gly232Ser) c.769G>A (p.Gly257Ser) c.541G>A (p.Gly181Ser) | dbSNP |
| 7 | g.107915659G>C | CA368857303 | DLD | c.838G>C (p.Gly280Arg) c.*512G>C (n.*512G>C) c.694G>C (p.Gly232Arg) c.769G>C (p.Gly257Arg) c.541G>C (p.Gly181Arg) | |
| 7 | g.107915659G>T | CA368857300 | DLD | c.838G>T (p.Gly280Cys) c.*512G>T (n.*512G>T) c.694G>T (p.Gly232Cys) c.769G>T (p.Gly257Cys) c.541G>T (p.Gly181Cys) | |
| 7 | g.107915660G>A | CA368857309 | DLD | c.839G>A (p.Gly280Asp) c.*513G>A (n.*513G>A) c.695G>A (p.Gly232Asp) c.770G>A (p.Gly257Asp) c.542G>A (p.Gly181Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.107915660G>C | CA368857305 | DLD | c.839G>C (p.Gly280Ala) c.*513G>C (n.*513G>C) c.695G>C (p.Gly232Ala) c.770G>C (p.Gly257Ala) c.542G>C (p.Gly181Ala) | |
| 7 | g.107915660G= | CA1732859365 | DLD | c.839G= (p.Gly280=) c.*513G= (n.*513G=) c.695G= (p.Gly232=) c.770G= (p.Gly257=) c.542G= (p.Gly181=) | |
| 7 | g.107915660G>T | CA368857307 | DLD | c.839G>T (p.Gly280Val) c.*513G>T (n.*513G>T) c.695G>T (p.Gly232Val) c.770G>T (p.Gly257Val) c.542G>T (p.Gly181Val) | |
| 7 | g.107915661T>A | CA457108903 | DLD | c.840T>A (p.Gly280=) c.*514T>A (n.*514T>A) c.696T>A (p.Gly232=) c.771T>A (p.Gly257=) c.543T>A (p.Gly181=) | ClinVar dbSNP |
| 7 | g.107915661T>C | CA457108905 | DLD | c.840T>C (p.Gly280=) c.*514T>C (n.*514T>C) c.696T>C (p.Gly232=) c.771T>C (p.Gly257=) c.543T>C (p.Gly181=) | |
| 7 | g.107915661T>G | CA457108906 | DLD | c.840T>G (p.Gly280=) c.*514T>G (n.*514T>G) c.696T>G (p.Gly232=) c.771T>G (p.Gly257=) c.543T>G (p.Gly181=) | |
| 7 | g.107915662G>A | CA368857311 | DLD | c.841G>A (p.Ala281Thr) c.*515G>A (n.*515G>A) c.697G>A (p.Ala233Thr) c.772G>A (p.Ala258Thr) c.544G>A (p.Ala182Thr) | |
| 7 | g.107915662G>C | CA368857312 | DLD | c.841G>C (p.Ala281Pro) c.*515G>C (n.*515G>C) c.697G>C (p.Ala233Pro) c.772G>C (p.Ala258Pro) c.544G>C (p.Ala182Pro) | |
| 7 | g.107915662G>T | CA368857314 | DLD | c.841G>T (p.Ala281Ser) c.*515G>T (n.*515G>T) c.697G>T (p.Ala233Ser) c.772G>T (p.Ala258Ser) c.544G>T (p.Ala182Ser) | |
| 7 | g.107915663C>A | CA368857317 | DLD | c.842C>A (p.Ala281Asp) c.*516C>A (n.*516C>A) c.698C>A (p.Ala233Asp) c.773C>A (p.Ala258Asp) c.545C>A (p.Ala182Asp) | |
| 7 | g.107915663C>G | CA368857318 | DLD | c.842C>G (p.Ala281Gly) c.*516C>G (n.*516C>G) c.698C>G (p.Ala233Gly) c.773C>G (p.Ala258Gly) c.545C>G (p.Ala182Gly) | |
| 7 | g.107915663C>T | CA368857320 | DLD | c.842C>T (p.Ala281Val) c.*516C>T (n.*516C>T) c.698C>T (p.Ala233Val) c.773C>T (p.Ala258Val) c.545C>T (p.Ala182Val) | gnomAD v4 |
| 7 | g.107915663_107915669del | CA2578990157 | DLD | c.842_848del (p.Ala281GlyfsTer?) c.*516_*522del (n.*516_*522del) c.698_704del (p.Ala233GlyfsTer?) c.773_779del (p.Ala258GlyfsTer?) c.545_551del (p.Ala182GlyfsTer?) | |
| 7 | g.107915664T>A | CA457108914 | DLD | c.843T>A (p.Ala281=) c.*517T>A (n.*517T>A) c.699T>A (p.Ala233=) c.774T>A (p.Ala258=) c.546T>A (p.Ala182=) | |
| 7 | g.107915664T>C | CA457108912 | DLD | c.843T>C (p.Ala281=) c.*517T>C (n.*517T>C) c.699T>C (p.Ala233=) c.774T>C (p.Ala258=) c.546T>C (p.Ala182=) | dbSNP |
| 7 | g.107915664T>G | CA457108911 | DLD | c.843T>G (p.Ala281=) c.*517T>G (n.*517T>G) c.699T>G (p.Ala233=) c.774T>G (p.Ala258=) c.546T>G (p.Ala182=) | |
| 7 | g.107915664T= | CA1732859366 | DLD | c.843T= (p.Ala281=) c.*517T= (n.*517T=) c.699T= (p.Ala233=) c.774T= (p.Ala258=) c.546T= (p.Ala182=) | |
| 7 | g.107915665A>C | CA368857322 | DLD | c.844A>C (p.Thr282Pro) c.*518A>C (n.*518A>C) c.700A>C (p.Thr234Pro) c.775A>C (p.Thr259Pro) c.547A>C (p.Thr183Pro) | gnomAD v4 |
| 7 | g.107915665A>G | CA368857323 | DLD | c.844A>G (p.Thr282Ala) c.*518A>G (n.*518A>G) c.700A>G (p.Thr234Ala) c.775A>G (p.Thr259Ala) c.547A>G (p.Thr183Ala) | |
| 7 | g.107915665A>T | CA368857325 | DLD | c.844A>T (p.Thr282Ser) c.*518A>T (n.*518A>T) c.700A>T (p.Thr234Ser) c.775A>T (p.Thr259Ser) c.547A>T (p.Thr183Ser) | |
| 7 | g.107915666C>A | CA368857327 | DLD | c.845C>A (p.Thr282Asn) c.*519C>A (n.*519C>A) c.701C>A (p.Thr234Asn) c.776C>A (p.Thr259Asn) c.548C>A (p.Thr183Asn) | |
| 7 | g.107915666C= | CA1732859367 | DLD | c.845C= (p.Thr282=) c.*519C= (n.*519C=) c.701C= (p.Thr234=) c.776C= (p.Thr259=) c.548C= (p.Thr183=) | |
| 7 | g.107915666C>G | CA368857329 | DLD | c.845C>G (p.Thr282Ser) c.*519C>G (n.*519C>G) c.701C>G (p.Thr234Ser) c.776C>G (p.Thr259Ser) c.548C>G (p.Thr183Ser) | |
| 7 | g.107915666C>T | CA4434563 | DLD | c.845C>T (p.Thr282Ile) c.*519C>T (n.*519C>T) c.701C>T (p.Thr234Ile) c.776C>T (p.Thr259Ile) c.548C>T (p.Thr183Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.107915667C>A | CA457108918 | DLD | c.846C>A (p.Thr282=) c.*520C>A (n.*520C>A) c.702C>A (p.Thr234=) c.777C>A (p.Thr259=) c.549C>A (p.Thr183=) | |
| 7 | g.107915667C= | CA1732859368 | DLD | c.846C= (p.Thr282=) c.*520C= (n.*520C=) c.702C= (p.Thr234=) c.777C= (p.Thr259=) c.549C= (p.Thr183=) | |
| 7 | g.107915667C>G | CA4434564 | DLD | c.846C>G (p.Thr282=) c.*520C>G (n.*520C>G) c.702C>G (p.Thr234=) c.777C>G (p.Thr259=) c.549C>G (p.Thr183=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.107915667C>T | CA457108919 | DLD | c.846C>T (p.Thr282=) c.*520C>T (n.*520C>T) c.702C>T (p.Thr234=) c.777C>T (p.Thr259=) c.549C>T (p.Thr183=) | |
| 7 | g.107915667_107915668delinsCA | CA1732859369 | DLD | c.846_847delinsCA (p.Thr282=) c.*520_*521delinsCA (n.*520_*521delinsCA) c.702_703delinsCA (p.Thr234=) c.777_778delinsCA (p.Thr259=) c.549_550delinsCA (p.Thr183=) | |
| 7 | g.107915668A>C | CA368857331 | DLD | c.847A>C (p.Lys283Gln) c.*521A>C (n.*521A>C) c.703A>C (p.Lys235Gln) c.778A>C (p.Lys260Gln) c.550A>C (p.Lys184Gln) | |
| 7 | g.107915668A>G | CA368857333 | DLD | c.847A>G (p.Lys283Glu) c.*521A>G (n.*521A>G) c.703A>G (p.Lys235Glu) c.778A>G (p.Lys260Glu) c.550A>G (p.Lys184Glu) | gnomAD v4 |
| 7 | g.107915668A>T | CA368857334 | DLD | c.847A>T (p.Lys283Ter) c.*521A>T (n.*521A>T) c.703A>T (p.Lys235Ter) c.778A>T (p.Lys260Ter) c.550A>T (p.Lys184Ter) | |
| 7 | g.107915669del | CA1105644283 | DLD | c.848del (p.Lys283ArgfsTer?) c.*522del (n.*522del) c.704del (p.Lys235ArgfsTer?) c.779del (p.Lys260ArgfsTer?) c.551del (p.Lys184ArgfsTer?) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.107915669A>C | CA368857336 | DLD | c.848A>C (p.Lys283Thr) c.*522A>C (n.*522A>C) c.704A>C (p.Lys235Thr) c.779A>C (p.Lys260Thr) c.551A>C (p.Lys184Thr) | |
| 7 | g.107915669A>G | CA368857338 | DLD | c.848A>G (p.Lys283Arg) c.*522A>G (n.*522A>G) c.704A>G (p.Lys235Arg) c.779A>G (p.Lys260Arg) c.551A>G (p.Lys184Arg) | |
| 7 | g.107915669A>T | CA368857339 | DLD | c.848A>T (p.Lys283Met) c.*522A>T (n.*522A>T) c.704A>T (p.Lys235Met) c.779A>T (p.Lys260Met) c.551A>T (p.Lys184Met) | |
| 7 | g.107915670G>A | CA164257753 | DLD | c.849G>A (p.Lys283=) c.*523G>A (n.*523G>A) c.705G>A (p.Lys235=) c.780G>A (p.Lys260=) c.552G>A (p.Lys184=) | dbSNP gnomAD v4 |
| 7 | g.107915670G>C | CA368857341 | DLD | c.849G>C (p.Lys283Asn) c.*523G>C (n.*523G>C) c.705G>C (p.Lys235Asn) c.780G>C (p.Lys260Asn) c.552G>C (p.Lys184Asn) | |
| 7 | g.107915670G= | CA1732859370 | DLD | c.849G= (p.Lys283=) c.*523G= (n.*523G=) c.705G= (p.Lys235=) c.780G= (p.Lys260=) c.552G= (p.Lys184=) | |
| 7 | g.107915670G>T | CA368857343 | DLD | c.849G>T (p.Lys283Asn) c.*523G>T (n.*523G>T) c.705G>T (p.Lys235Asn) c.780G>T (p.Lys260Asn) c.552G>T (p.Lys184Asn) | |
| 7 | g.107915671A>C | CA368857345 | DLD | c.850A>C (p.Lys284Gln) c.*524A>C (n.*524A>C) c.706A>C (p.Lys236Gln) c.781A>C (p.Lys261Gln) c.553A>C (p.Lys185Gln) | |
| 7 | g.107915671A>G | CA368857347 | DLD | c.850A>G (p.Lys284Glu) c.*524A>G (n.*524A>G) c.706A>G (p.Lys236Glu) c.781A>G (p.Lys261Glu) c.553A>G (p.Lys185Glu) | |
| 7 | g.107915671A>T | CA368857349 | DLD | c.850A>T (p.Lys284Ter) c.*524A>T (n.*524A>T) c.706A>T (p.Lys236Ter) c.781A>T (p.Lys261Ter) c.553A>T (p.Lys185Ter) | |
| 7 | g.107915672A>C | CA368857351 | DLD | c.851A>C (p.Lys284Thr) c.*525A>C (n.*525A>C) c.707A>C (p.Lys236Thr) c.782A>C (p.Lys261Thr) c.554A>C (p.Lys185Thr) | |
| 7 | g.107915672A>G | CA368857352 | DLD | c.851A>G (p.Lys284Arg) c.*525A>G (n.*525A>G) c.707A>G (p.Lys236Arg) c.782A>G (p.Lys261Arg) c.554A>G (p.Lys185Arg) | |
| 7 | g.107915672A>T | CA368857354 | DLD | c.851A>T (p.Lys284Met) c.*525A>T (n.*525A>T) c.707A>T (p.Lys236Met) c.782A>T (p.Lys261Met) c.554A>T (p.Lys185Met) | |
| 7 | g.107915673G>A | CA457108923 | DLD | c.852G>A (p.Lys284=) c.*526G>A (n.*526G>A) c.708G>A (p.Lys236=) c.783G>A (p.Lys261=) c.555G>A (p.Lys185=) | |
| 7 | g.107915673G>C | CA368857356 | DLD | c.852G>C (p.Lys284Asn) c.*526G>C (n.*526G>C) c.708G>C (p.Lys236Asn) c.783G>C (p.Lys261Asn) c.555G>C (p.Lys185Asn) | |
| 7 | g.107915673G>T | CA368857358 | DLD | c.852G>T (p.Lys284Asn) c.*526G>T (n.*526G>T) c.708G>T (p.Lys236Asn) c.783G>T (p.Lys261Asn) c.555G>T (p.Lys185Asn) | |
| 7 | g.107915674T>A | CA368857360 | DLD | c.853T>A (p.Ser285Thr) c.*527T>A (n.*527T>A) c.709T>A (p.Ser237Thr) c.784T>A (p.Ser262Thr) c.556T>A (p.Ser186Thr) | |
| 7 | g.107915674T>C | CA368857362 | DLD | c.853T>C (p.Ser285Pro) c.*527T>C (n.*527T>C) c.709T>C (p.Ser237Pro) c.784T>C (p.Ser262Pro) c.556T>C (p.Ser186Pro) | dbSNP gnomAD v4 |
| 7 | g.107915674T>G | CA368857364 | DLD | c.853T>G (p.Ser285Ala) c.*527T>G (n.*527T>G) c.709T>G (p.Ser237Ala) c.784T>G (p.Ser262Ala) c.556T>G (p.Ser186Ala) | |
| 7 | g.107915674T= | CA1732859371 | DLD | c.853T= (p.Ser285=) c.*527T= (n.*527T=) c.709T= (p.Ser237=) c.784T= (p.Ser262=) c.556T= (p.Ser186=) | |
| 7 | g.107915675C>A | CA368857366 | DLD | c.854C>A (p.Ser285Ter) c.*528C>A (n.*528C>A) c.710C>A (p.Ser237Ter) c.785C>A (p.Ser262Ter) c.557C>A (p.Ser186Ter) | gnomAD v4 |
| 7 | g.107915675C>G | CA368857368 | DLD | c.854C>G (p.Ser285Ter) c.*528C>G (n.*528C>G) c.710C>G (p.Ser237Ter) c.785C>G (p.Ser262Ter) c.557C>G (p.Ser186Ter) | ClinVar |
| 7 | g.107915675C>T | CA368857370 | DLD | c.854C>T (p.Ser285Leu) c.*528C>T (n.*528C>T) c.710C>T (p.Ser237Leu) c.785C>T (p.Ser262Leu) c.557C>T (p.Ser186Leu) | gnomAD v4 |
| 7 | g.107915676A>C | CA457108927 | DLD | c.855A>C (p.Ser285=) c.*529A>C (n.*529A>C) c.711A>C (p.Ser237=) c.786A>C (p.Ser262=) c.558A>C (p.Ser186=) | |
| 7 | g.107915676A>G | CA457108930 | DLD | c.855A>G (p.Ser285=) c.*529A>G (n.*529A>G) c.711A>G (p.Ser237=) c.786A>G (p.Ser262=) c.558A>G (p.Ser186=) | |
| 7 | g.107915676A>T | CA457108929 | DLD | c.855A>T (p.Ser285=) c.*529A>T (n.*529A>T) c.711A>T (p.Ser237=) c.786A>T (p.Ser262=) c.558A>T (p.Ser186=) | |
| 7 | g.107915677_107915678del | CA2695199605 | DLD | c.856_857del (p.Asp286TrpfsTer4) c.*530_*531del (n.*530_*531del) c.712_713del (p.Asp238TrpfsTer4) c.787_788del (p.Asp263TrpfsTer4) c.559_560del (p.Asp187TrpfsTer4) | ClinVar |
| 7 | g.107915677del | CA2695203098 | DLD | c.856del (p.Asp286MetfsTer?) c.*530del (n.*530del) c.712del (p.Asp238MetfsTer?) c.787del (p.Asp263MetfsTer?) c.559del (p.Asp187MetfsTer?) | |
| 7 | g.107915677G>A | CA368857375 | DLD | c.856G>A (p.Asp286Asn) c.*530G>A (n.*530G>A) c.712G>A (p.Asp238Asn) c.787G>A (p.Asp263Asn) c.559G>A (p.Asp187Asn) | |
| 7 | g.107915677G>C | CA4434565 | DLD | c.856G>C (p.Asp286His) c.*530G>C (n.*530G>C) c.712G>C (p.Asp238His) c.787G>C (p.Asp263His) c.559G>C (p.Asp187His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107915677G= | CA1732859372 | DLD | c.856G= (p.Asp286=) c.*530G= (n.*530G=) c.712G= (p.Asp238=) c.787G= (p.Asp263=) c.559G= (p.Asp187=) | |
| 7 | g.107915677G>T | CA368857373 | DLD | c.856G>T (p.Asp286Tyr) c.*530G>T (n.*530G>T) c.712G>T (p.Asp238Tyr) c.787G>T (p.Asp263Tyr) c.559G>T (p.Asp187Tyr) | |
| 7 | g.107915678A= | CA1732859373 | DLD | c.857A= (p.Asp286=) c.*531A= (n.*531A=) c.713A= (p.Asp238=) c.788A= (p.Asp263=) c.560A= (p.Asp187=) | |
| 7 | g.107915678A>C | CA368857376 | DLD | c.857A>C (p.Asp286Ala) c.*531A>C (n.*531A>C) c.713A>C (p.Asp238Ala) c.788A>C (p.Asp263Ala) c.560A>C (p.Asp187Ala) | |
| 7 | g.107915678A>G | CA4434566 | DLD | c.857A>G (p.Asp286Gly) c.*531A>G (n.*531A>G) c.713A>G (p.Asp238Gly) c.788A>G (p.Asp263Gly) c.560A>G (p.Asp187Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107915678A>T | CA368857378 | DLD | c.857A>T (p.Asp286Val) c.*531A>T (n.*531A>T) c.713A>T (p.Asp238Val) c.788A>T (p.Asp263Val) c.560A>T (p.Asp187Val) | |
| 7 | g.107915679T>A | CA368857380 | DLD | c.858T>A (p.Asp286Glu) c.*532T>A (n.*532T>A) c.714T>A (p.Asp238Glu) c.789T>A (p.Asp263Glu) c.561T>A (p.Asp187Glu) | |
| 7 | g.107915679T>C | CA457108931 | DLD | c.858T>C (p.Asp286=) c.*532T>C (n.*532T>C) c.714T>C (p.Asp238=) c.789T>C (p.Asp263=) c.561T>C (p.Asp187=) | gnomAD v4 |
| 7 | g.107915679T>G | CA368857382 | DLD | c.858T>G (p.Asp286Glu) c.*532T>G (n.*532T>G) c.714T>G (p.Asp238Glu) c.789T>G (p.Asp263Glu) c.561T>G (p.Asp187Glu) | |
| 7 | g.107915679dup | CA2695203099 | DLD | c.858dup (p.Gly287TrpfsTer4) c.*532dup (n.*532dup) c.714dup (p.Gly239TrpfsTer4) c.789dup (p.Gly264TrpfsTer4) c.561dup (p.Gly188TrpfsTer4) | |
| 7 | g.107915680G>A | CA368857388 | DLD | c.859G>A (p.Gly287Arg) c.*533G>A (n.*533G>A) c.715G>A (p.Gly239Arg) c.790G>A (p.Gly264Arg) c.562G>A (p.Gly188Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.107915680G>C | CA368857392 | DLD | c.859G>C (p.Gly287Arg) c.*533G>C (n.*533G>C) c.715G>C (p.Gly239Arg) c.790G>C (p.Gly264Arg) c.562G>C (p.Gly188Arg) | |
| 7 | g.107915680G= | CA1732859374 | DLD | c.859G= (p.Gly287=) c.*533G= (n.*533G=) c.715G= (p.Gly239=) c.790G= (p.Gly264=) c.562G= (p.Gly188=) | |
| 7 | g.107915680G>T | CA368857390 | DLD | c.859G>T (p.Gly287Ter) c.*533G>T (n.*533G>T) c.715G>T (p.Gly239Ter) c.790G>T (p.Gly264Ter) c.562G>T (p.Gly188Ter) | |
| 7 | g.107915681dup | CA913111801 | DLD | c.860dup (p.Ile289AsnfsTer2) c.*534dup (n.*534dup) c.716dup (p.Ile241AsnfsTer2) c.791dup (p.Ile266AsnfsTer2) c.563dup (p.Ile190AsnfsTer2) | |
| 7 | g.107915681G>A | CA4434567 | DLD | c.860G>A (p.Gly287Glu) c.*534G>A (n.*534G>A) c.716G>A (p.Gly239Glu) c.791G>A (p.Gly264Glu) c.563G>A (p.Gly188Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107915681G>C | CA368857395 | DLD | c.860G>C (p.Gly287Ala) c.*534G>C (n.*534G>C) c.716G>C (p.Gly239Ala) c.791G>C (p.Gly264Ala) c.563G>C (p.Gly188Ala) | |
| 7 | g.107915681G= | CA1732859375 | DLD | c.860G= (p.Gly287=) c.*534G= (n.*534G=) c.716G= (p.Gly239=) c.791G= (p.Gly264=) c.563G= (p.Gly188=) | |
| 7 | g.107915681G>T | CA368857396 | DLD | c.860G>T (p.Gly287Val) c.*534G>T (n.*534G>T) c.716G>T (p.Gly239Val) c.791G>T (p.Gly264Val) c.563G>T (p.Gly188Val) | |
| 7 | g.107915682A>C | CA457108934 | DLD | c.861A>C (p.Gly287=) c.*535A>C (n.*535A>C) c.717A>C (p.Gly239=) c.792A>C (p.Gly264=) c.564A>C (p.Gly188=) | |
| 7 | g.107915682A>G | CA457108935 | DLD | c.861A>G (p.Gly287=) c.*535A>G (n.*535A>G) c.717A>G (p.Gly239=) c.792A>G (p.Gly264=) c.564A>G (p.Gly188=) | |
| 7 | g.107915682A>T | CA457108936 | DLD | c.861A>T (p.Gly287=) c.*535A>T (n.*535A>T) c.717A>T (p.Gly239=) c.792A>T (p.Gly264=) c.564A>T (p.Gly188=) | gnomAD v4 |
| 7 | g.107915686dup | CA577199130 | DLD | c.865dup (p.Ile289AsnfsTer2) c.*539dup (n.*539dup) c.721dup (p.Ile241AsnfsTer2) c.796dup (p.Ile266AsnfsTer2) c.568dup (p.Ile190AsnfsTer2) | ClinVar dbSNP gnomAD v2 |
| 7 | g.107915683A= | CA1732859376 | DLD | c.862A= (p.Lys288=) c.*536A= (n.*536A=) c.718A= (p.Lys240=) c.793A= (p.Lys265=) c.565A= (p.Lys189=) | |
| 7 | g.107915683A>C | CA368857398 | DLD | c.862A>C (p.Lys288Gln) c.*536A>C (n.*536A>C) c.718A>C (p.Lys240Gln) c.793A>C (p.Lys265Gln) c.565A>C (p.Lys189Gln) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.107915683A>G | CA368857399 | DLD | c.862A>G (p.Lys288Glu) c.*536A>G (n.*536A>G) c.718A>G (p.Lys240Glu) c.793A>G (p.Lys265Glu) c.565A>G (p.Lys189Glu) | |
| 7 | g.107915683A>T | CA368857400 | DLD | c.862A>T (p.Lys288Ter) c.*536A>T (n.*536A>T) c.718A>T (p.Lys240Ter) c.793A>T (p.Lys265Ter) c.565A>T (p.Lys189Ter) | |
| 7 | g.107915684A>C | CA368857401 | DLD | c.863A>C (p.Lys288Thr) c.*537A>C (n.*537A>C) c.719A>C (p.Lys240Thr) c.794A>C (p.Lys265Thr) c.566A>C (p.Lys189Thr) | |
| 7 | g.107915684A>G | CA368857402 | DLD | c.863A>G (p.Lys288Arg) c.*537A>G (n.*537A>G) c.719A>G (p.Lys240Arg) c.794A>G (p.Lys265Arg) c.566A>G (p.Lys189Arg) | |
| 7 | g.107915684A>T | CA368857403 | DLD | c.863A>T (p.Lys288Ile) c.*537A>T (n.*537A>T) c.719A>T (p.Lys240Ile) c.794A>T (p.Lys265Ile) c.566A>T (p.Lys189Ile) | |
| 7 | g.107915685A>C | CA368857404 | DLD | c.864A>C (p.Lys288Asn) c.*538A>C (n.*538A>C) c.720A>C (p.Lys240Asn) c.795A>C (p.Lys265Asn) c.567A>C (p.Lys189Asn) | |
| 7 | g.107915685A>G | CA457108938 | DLD | c.864A>G (p.Lys288=) c.*538A>G (n.*538A>G) c.720A>G (p.Lys240=) c.795A>G (p.Lys265=) c.567A>G (p.Lys189=) | |
| 7 | g.107915685A>T | CA368857405 | DLD | c.864A>T (p.Lys288Asn) c.*538A>T (n.*538A>T) c.720A>T (p.Lys240Asn) c.795A>T (p.Lys265Asn) c.567A>T (p.Lys189Asn) | |
| 7 | g.107915686A= | CA1732859377 | DLD | c.865A= (p.Ile289=) c.*539A= (n.*539A=) c.721A= (p.Ile241=) c.796A= (p.Ile266=) c.568A= (p.Ile190=) | |
| 7 | g.107915686A>C | CA368857408 | DLD | c.865A>C (p.Ile289Leu) c.*539A>C (n.*539A>C) c.721A>C (p.Ile241Leu) c.796A>C (p.Ile266Leu) c.568A>C (p.Ile190Leu) | |
| 7 | g.107915686A>G | CA368857407 | DLD | c.865A>G (p.Ile289Val) c.*539A>G (n.*539A>G) c.721A>G (p.Ile241Val) c.796A>G (p.Ile266Val) c.568A>G (p.Ile190Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107915686A>T | CA368857406 | DLD | c.865A>T (p.Ile289Phe) c.*539A>T (n.*539A>T) c.721A>T (p.Ile241Phe) c.796A>T (p.Ile266Phe) c.568A>T (p.Ile190Phe) | |
| 7 | g.107915687T>A | CA368857409 | DLD | c.866T>A (p.Ile289Asn) c.*540T>A (n.*540T>A) c.722T>A (p.Ile241Asn) c.797T>A (p.Ile266Asn) c.569T>A (p.Ile190Asn) | |
| 7 | g.107915687T>C | CA368857411 | DLD | c.866T>C (p.Ile289Thr) c.*540T>C (n.*540T>C) c.722T>C (p.Ile241Thr) c.797T>C (p.Ile266Thr) c.569T>C (p.Ile190Thr) | ClinVar dbSNP gnomAD v4 |
| 7 | g.107915687T>G | CA368857410 | DLD | c.866T>G (p.Ile289Ser) c.*540T>G (n.*540T>G) c.722T>G (p.Ile241Ser) c.797T>G (p.Ile266Ser) c.569T>G (p.Ile190Ser) | gnomAD v4 |
| 7 | g.107915688T>A | CA457108941 | DLD | c.867T>A (p.Ile289=) c.*541T>A (n.*541T>A) c.723T>A (p.Ile241=) c.798T>A (p.Ile266=) c.570T>A (p.Ile190=) | |
| 7 | g.107915688T>C | CA457108943 | DLD | c.867T>C (p.Ile289=) c.*541T>C (n.*541T>C) c.723T>C (p.Ile241=) c.798T>C (p.Ile266=) c.570T>C (p.Ile190=) | |
| 7 | g.107915688T>G | CA368857412 | DLD | c.867T>G (p.Ile289Met) c.*541T>G (n.*541T>G) c.723T>G (p.Ile241Met) c.798T>G (p.Ile266Met) c.570T>G (p.Ile190Met) | gnomAD v4 |
| 7 | g.107915689G>A | CA368857414 | DLD | c.868G>A (p.Asp290Asn) c.*542G>A (n.*542G>A) c.724G>A (p.Asp242Asn) c.799G>A (p.Asp267Asn) c.571G>A (p.Asp191Asn) | |
| 7 | g.107915689G>C | CA368857413 | DLD | c.868G>C (p.Asp290His) c.*542G>C (n.*542G>C) c.724G>C (p.Asp242His) c.799G>C (p.Asp267His) c.571G>C (p.Asp191His) | |
| 7 | g.107915689G= | CA1732859378 | DLD | c.868G= (p.Asp290=) c.*542G= (n.*542G=) c.724G= (p.Asp242=) c.799G= (p.Asp267=) c.571G= (p.Asp191=) | |
| 7 | g.107915689G>T | CA368857415 | DLD | c.868G>T (p.Asp290Tyr) c.*542G>T (n.*542G>T) c.724G>T (p.Asp242Tyr) c.799G>T (p.Asp267Tyr) c.571G>T (p.Asp191Tyr) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.107915690A= | CA1732859379 | DLD | c.869A= (p.Asp290=) c.*543A= (n.*543A=) c.725A= (p.Asp242=) c.800A= (p.Asp267=) c.572A= (p.Asp191=) | |
| 7 | g.107915690A>C | CA368857416 | DLD | c.869A>C (p.Asp290Ala) c.*543A>C (n.*543A>C) c.725A>C (p.Asp242Ala) c.800A>C (p.Asp267Ala) c.572A>C (p.Asp191Ala) | |
| 7 | g.107915690A>G | CA312446 | DLD | c.869A>G (p.Asp290Gly) c.*543A>G (n.*543A>G) c.725A>G (p.Asp242Gly) c.800A>G (p.Asp267Gly) c.572A>G (p.Asp191Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107915690A>T | CA368857417 | DLD | c.869A>T (p.Asp290Val) c.*543A>T (n.*543A>T) c.725A>T (p.Asp242Val) c.800A>T (p.Asp267Val) c.572A>T (p.Asp191Val) |