UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.107917351A>C | CA368858273 | DLD | c.1125A>C (p.Glu375Asp) c.*799A>C (n.*799A>C) c.981A>C (p.Glu327Asp) c.1056A>C (p.Glu352Asp) c.828A>C (p.Glu276Asp) | |
| 7 | g.107917351A>G | CA457109462 | DLD | c.1125A>G (p.Glu375=) c.*799A>G (n.*799A>G) c.981A>G (p.Glu327=) c.1056A>G (p.Glu352=) c.828A>G (p.Glu276=) | |
| 7 | g.107917351A>T | CA368858275 | DLD | c.1125A>T (p.Glu375Asp) c.*799A>T (n.*799A>T) c.981A>T (p.Glu327Asp) c.1056A>T (p.Glu352Asp) c.828A>T (p.Glu276Asp) | |
| 7 | g.107917352G>A | CA368858277 | DLD | c.1126G>A (p.Gly376Arg) c.*800G>A (n.*800G>A) c.982G>A (p.Gly328Arg) c.1057G>A (p.Gly353Arg) c.829G>A (p.Gly277Arg) | |
| 7 | g.107917352G>C | CA368858279 | DLD | c.1126G>C (p.Gly376Arg) c.*800G>C (n.*800G>C) c.982G>C (p.Gly328Arg) c.1057G>C (p.Gly353Arg) c.829G>C (p.Gly277Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.107917352G= | CA1732860041 | DLD | c.1126G= (p.Gly376=) c.*800G= (n.*800G=) c.982G= (p.Gly328=) c.1057G= (p.Gly353=) c.829G= (p.Gly277=) | |
| 7 | g.107917352G>T | CA368858280 | DLD | c.1126G>T (p.Gly376Ter) c.*800G>T (n.*800G>T) c.982G>T (p.Gly328Ter) c.1057G>T (p.Gly353Ter) c.829G>T (p.Gly277Ter) | |
| 7 | g.107917353G>A | CA368858285 | DLD | c.1127G>A (p.Gly376Glu) c.*801G>A (n.*801G>A) c.983G>A (p.Gly328Glu) c.1058G>A (p.Gly353Glu) c.830G>A (p.Gly277Glu) | dbSNP |
| 7 | g.107917353G>C | CA368858284 | DLD | c.1127G>C (p.Gly376Ala) c.*801G>C (n.*801G>C) c.983G>C (p.Gly328Ala) c.1058G>C (p.Gly353Ala) c.830G>C (p.Gly277Ala) | |
| 7 | g.107917353G= | CA1732860042 | DLD | c.1127G= (p.Gly376=) c.*801G= (n.*801G=) c.983G= (p.Gly328=) c.1058G= (p.Gly353=) c.830G= (p.Gly277=) | |
| 7 | g.107917353G>T | CA368858282 | DLD | c.1127G>T (p.Gly376Val) c.*801G>T (n.*801G>T) c.983G>T (p.Gly328Val) c.1058G>T (p.Gly353Val) c.830G>T (p.Gly277Val) | |
| 7 | g.107917354A>C | CA457109463 | DLD | c.1128A>C (p.Gly376=) c.*802A>C (n.*802A>C) c.984A>C (p.Gly328=) c.1059A>C (p.Gly353=) c.831A>C (p.Gly277=) | |
| 7 | g.107917354A>G | CA457109464 | DLD | c.1128A>G (p.Gly376=) c.*802A>G (n.*802A>G) c.984A>G (p.Gly328=) c.1059A>G (p.Gly353=) c.831A>G (p.Gly277=) | |
| 7 | g.107917354A>T | CA457109465 | DLD | c.1128A>T (p.Gly376=) c.*802A>T (n.*802A>T) c.984A>T (p.Gly328=) c.1059A>T (p.Gly353=) c.831A>T (p.Gly277=) | |
| 7 | g.107917355A= | CA1732860043 | DLD | c.1129A= (p.Met377=) c.*803A= (n.*803A=) c.985A= (p.Met329=) c.1060A= (p.Met354=) c.832A= (p.Met278=) | |
| 7 | g.107917355A>C | CA368858287 | DLD | c.1129A>C (p.Met377Leu) c.*803A>C (n.*803A>C) c.985A>C (p.Met329Leu) c.1060A>C (p.Met354Leu) c.832A>C (p.Met278Leu) | |
| 7 | g.107917355A>G | CA164258401 | DLD | c.1129A>G (p.Met377Val) c.*803A>G (n.*803A>G) c.985A>G (p.Met329Val) c.1060A>G (p.Met354Val) c.832A>G (p.Met278Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.107917355A>T | CA368858289 | DLD | c.1129A>T (p.Met377Leu) c.*803A>T (n.*803A>T) c.985A>T (p.Met329Leu) c.1060A>T (p.Met354Leu) c.832A>T (p.Met278Leu) | |
| 7 | g.107917356T>A | CA368858291 | DLD | c.1130T>A (p.Met377Lys) c.*804T>A (n.*804T>A) c.986T>A (p.Met329Lys) c.1061T>A (p.Met354Lys) c.833T>A (p.Met278Lys) | |
| 7 | g.107917356T>C | CA368858292 | DLD | c.1130T>C (p.Met377Thr) c.*804T>C (n.*804T>C) c.986T>C (p.Met329Thr) c.1061T>C (p.Met354Thr) c.833T>C (p.Met278Thr) | |
| 7 | g.107917356T>G | CA368858293 | DLD | c.1130T>G (p.Met377Arg) c.*804T>G (n.*804T>G) c.986T>G (p.Met329Arg) c.1061T>G (p.Met354Arg) c.833T>G (p.Met278Arg) | |
| 7 | g.107917357G>A | CA368858295 | DLD | c.1131G>A (p.Met377Ile) c.*805G>A (n.*805G>A) c.987G>A (p.Met329Ile) c.1062G>A (p.Met354Ile) c.834G>A (p.Met278Ile) | dbSNP |
| 7 | g.107917357G>C | CA368858296 | DLD | c.1131G>C (p.Met377Ile) c.*805G>C (n.*805G>C) c.987G>C (p.Met329Ile) c.1062G>C (p.Met354Ile) c.834G>C (p.Met278Ile) | |
| 7 | g.107917357G= | CA1732860044 | DLD | c.1131G= (p.Met377=) c.*805G= (n.*805G=) c.987G= (p.Met329=) c.1062G= (p.Met354=) c.834G= (p.Met278=) | |
| 7 | g.107917357G>T | CA368858297 | DLD | c.1131G>T (p.Met377Ile) c.*805G>T (n.*805G>T) c.987G>T (p.Met329Ile) c.1062G>T (p.Met354Ile) c.834G>T (p.Met278Ile) | |
| 7 | g.107917358G>A | CA368858299 | DLD | c.1132G>A (p.Ala378Thr) c.*806G>A (n.*806G>A) c.988G>A (p.Ala330Thr) c.1063G>A (p.Ala355Thr) c.835G>A (p.Ala279Thr) | |
| 7 | g.107917358G>C | CA368858300 | DLD | c.1132G>C (p.Ala378Pro) c.*806G>C (n.*806G>C) c.988G>C (p.Ala330Pro) c.1063G>C (p.Ala355Pro) c.835G>C (p.Ala279Pro) | |
| 7 | g.107917358G>T | CA368858302 | DLD | c.1132G>T (p.Ala378Ser) c.*806G>T (n.*806G>T) c.988G>T (p.Ala330Ser) c.1063G>T (p.Ala355Ser) c.835G>T (p.Ala279Ser) | |
| 7 | g.107917359C>A | CA368858306 | DLD | c.1133C>A (p.Ala378Asp) c.*807C>A (n.*807C>A) c.989C>A (p.Ala330Asp) c.1064C>A (p.Ala355Asp) c.836C>A (p.Ala279Asp) | |
| 7 | g.107917359C>G | CA368858304 | DLD | c.1133C>G (p.Ala378Gly) c.*807C>G (n.*807C>G) c.989C>G (p.Ala330Gly) c.1064C>G (p.Ala355Gly) c.836C>G (p.Ala279Gly) | |
| 7 | g.107917359C>T | CA368858303 | DLD | c.1133C>T (p.Ala378Val) c.*807C>T (n.*807C>T) c.989C>T (p.Ala330Val) c.1064C>T (p.Ala355Val) c.836C>T (p.Ala279Val) | |
| 7 | g.107917360T>A | CA457109466 | DLD | c.1134T>A (p.Ala378=) c.*808T>A (n.*808T>A) c.990T>A (p.Ala330=) c.1065T>A (p.Ala355=) c.837T>A (p.Ala279=) | |
| 7 | g.107917360T>C | CA457109467 | DLD | c.1134T>C (p.Ala378=) c.*808T>C (n.*808T>C) c.990T>C (p.Ala330=) c.1065T>C (p.Ala355=) c.837T>C (p.Ala279=) | |
| 7 | g.107917360T>G | CA457109468 | DLD | c.1134T>G (p.Ala378=) c.*808T>G (n.*808T>G) c.990T>G (p.Ala330=) c.1065T>G (p.Ala355=) c.837T>G (p.Ala279=) | |
| 7 | g.107917361G>A | CA368858308 | DLD | c.1135G>A (p.Gly379Ser) c.*809G>A (n.*809G>A) c.991G>A (p.Gly331Ser) c.1066G>A (p.Gly356Ser) c.838G>A (p.Gly280Ser) | gnomAD v4 |
| 7 | g.107917361G>C | CA368858309 | DLD | c.1135G>C (p.Gly379Arg) c.*809G>C (n.*809G>C) c.991G>C (p.Gly331Arg) c.1066G>C (p.Gly356Arg) c.838G>C (p.Gly280Arg) | |
| 7 | g.107917361G>T | CA368858310 | DLD | c.1135G>T (p.Gly379Cys) c.*809G>T (n.*809G>T) c.991G>T (p.Gly331Cys) c.1066G>T (p.Gly356Cys) c.838G>T (p.Gly280Cys) | |
| 7 | g.107917362G>A | CA368858312 | DLD | c.1136G>A (p.Gly379Asp) c.*810G>A (n.*810G>A) c.992G>A (p.Gly331Asp) c.1067G>A (p.Gly356Asp) c.839G>A (p.Gly280Asp) | |
| 7 | g.107917362G>C | CA368858314 | DLD | c.1136G>C (p.Gly379Ala) c.*810G>C (n.*810G>C) c.992G>C (p.Gly331Ala) c.1067G>C (p.Gly356Ala) c.839G>C (p.Gly280Ala) | |
| 7 | g.107917362G>T | CA368858315 | DLD | c.1136G>T (p.Gly379Val) c.*810G>T (n.*810G>T) c.992G>T (p.Gly331Val) c.1067G>T (p.Gly356Val) c.839G>T (p.Gly280Val) | |
| 7 | g.107917363T>A | CA457109469 | DLD | c.1137T>A (p.Gly379=) c.*811T>A (n.*811T>A) c.993T>A (p.Gly331=) c.1068T>A (p.Gly356=) c.840T>A (p.Gly280=) | |
| 7 | g.107917363T>C | CA457109470 | DLD | c.1137T>C (p.Gly379=) c.*811T>C (n.*811T>C) c.993T>C (p.Gly331=) c.1068T>C (p.Gly356=) c.840T>C (p.Gly280=) | |
| 7 | g.107917363T>G | CA4434630 | DLD | c.1137T>G (p.Gly379=) c.*811T>G (n.*811T>G) c.993T>G (p.Gly331=) c.1068T>G (p.Gly356=) c.840T>G (p.Gly280=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.107917363T= | CA1732860045 | DLD | c.1137T= (p.Gly379=) c.*811T= (n.*811T=) c.993T= (p.Gly331=) c.1068T= (p.Gly356=) c.840T= (p.Gly280=) | |
| 7 | g.107917364G>A | CA4434631 | DLD | c.1138G>A (p.Gly380Ser) c.*812G>A (n.*812G>A) c.994G>A (p.Gly332Ser) c.1069G>A (p.Gly357Ser) c.841G>A (p.Gly281Ser) | dbSNP ExAC gnomAD v2 |
| 7 | g.107917364G>C | CA368858319 | DLD | c.1138G>C (p.Gly380Arg) c.*812G>C (n.*812G>C) c.994G>C (p.Gly332Arg) c.1069G>C (p.Gly357Arg) c.841G>C (p.Gly281Arg) | |
| 7 | g.107917364G= | CA1732860046 | DLD | c.1138G= (p.Gly380=) c.*812G= (n.*812G=) c.994G= (p.Gly332=) c.1069G= (p.Gly357=) c.841G= (p.Gly281=) | |
| 7 | g.107917364G>T | CA368858318 | DLD | c.1138G>T (p.Gly380Cys) c.*812G>T (n.*812G>T) c.994G>T (p.Gly332Cys) c.1069G>T (p.Gly357Cys) c.841G>T (p.Gly281Cys) | |
| 7 | g.107917365del | CA2580076208 | DLD | c.1139del (p.Gly380ValfsTer13) c.*813del (n.*813del) c.995del (p.Gly332ValfsTer13) c.1070del (p.Gly357ValfsTer13) c.842del (p.Gly281ValfsTer13) | ClinVar |
| 7 | g.107917365G>A | CA368858321 | DLD | c.1139G>A (p.Gly380Asp) c.*813G>A (n.*813G>A) c.995G>A (p.Gly332Asp) c.1070G>A (p.Gly357Asp) c.842G>A (p.Gly281Asp) | |
| 7 | g.107917365G>C | CA368858323 | DLD | c.1139G>C (p.Gly380Ala) c.*813G>C (n.*813G>C) c.995G>C (p.Gly332Ala) c.1070G>C (p.Gly357Ala) c.842G>C (p.Gly281Ala) | |
| 7 | g.107917365G>T | CA368858324 | DLD | c.1139G>T (p.Gly380Val) c.*813G>T (n.*813G>T) c.995G>T (p.Gly332Val) c.1070G>T (p.Gly357Val) c.842G>T (p.Gly281Val) | |
| 7 | g.107917366T>A | CA457109471 | DLD | c.1140T>A (p.Gly380=) c.*814T>A (n.*814T>A) c.996T>A (p.Gly332=) c.1071T>A (p.Gly357=) c.843T>A (p.Gly281=) | |
| 7 | g.107917366T>C | CA457109472 | DLD | c.1140T>C (p.Gly380=) c.*814T>C (n.*814T>C) c.996T>C (p.Gly332=) c.1071T>C (p.Gly357=) c.843T>C (p.Gly281=) | |
| 7 | g.107917366T>G | CA4434632 | DLD | c.1140T>G (p.Gly380=) c.*814T>G (n.*814T>G) c.996T>G (p.Gly332=) c.1071T>G (p.Gly357=) c.843T>G (p.Gly281=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.107917366T= | CA1732860047 | DLD | c.1140T= (p.Gly380=) c.*814T= (n.*814T=) c.996T= (p.Gly332=) c.1071T= (p.Gly357=) c.843T= (p.Gly281=) | |
| 7 | g.107917367G>A | CA368858327 | DLD | c.1141G>A (p.Ala381Thr) c.*815G>A (n.*815G>A) c.997G>A (p.Ala333Thr) c.1072G>A (p.Ala358Thr) c.844G>A (p.Ala282Thr) | gnomAD v4 |
| 7 | g.107917367G>C | CA368858329 | DLD | c.1141G>C (p.Ala381Pro) c.*815G>C (n.*815G>C) c.997G>C (p.Ala333Pro) c.1072G>C (p.Ala358Pro) c.844G>C (p.Ala282Pro) | gnomAD v4 |
| 7 | g.107917367G>T | CA368858328 | DLD | c.1141G>T (p.Ala381Ser) c.*815G>T (n.*815G>T) c.997G>T (p.Ala333Ser) c.1072G>T (p.Ala358Ser) c.844G>T (p.Ala282Ser) | |
| 7 | g.107917367dup | CA2684458865 | DLD | c.1141dup (p.Ala381GlyfsTer5) c.*815dup (n.*815dup) c.997dup (p.Ala333GlyfsTer5) c.1072dup (p.Ala358GlyfsTer5) c.844dup (p.Ala282GlyfsTer5) | gnomAD v4 |
| 7 | g.107917368C>A | CA368858331 | DLD | c.1142C>A (p.Ala381Asp) c.*816C>A (n.*816C>A) c.998C>A (p.Ala333Asp) c.1073C>A (p.Ala358Asp) c.845C>A (p.Ala282Asp) | COSMIC COSMIC |
| 7 | g.107917368C= | CA1732860048 | DLD | c.1142C= (p.Ala381=) c.*816C= (n.*816C=) c.998C= (p.Ala333=) c.1073C= (p.Ala358=) c.845C= (p.Ala282=) | |
| 7 | g.107917368C>G | CA368858332 | DLD | c.1142C>G (p.Ala381Gly) c.*816C>G (n.*816C>G) c.998C>G (p.Ala333Gly) c.1073C>G (p.Ala358Gly) c.845C>G (p.Ala282Gly) | dbSNP gnomAD v2 |
| 7 | g.107917368C>T | CA368858333 | DLD | c.1142C>T (p.Ala381Val) c.*816C>T (n.*816C>T) c.998C>T (p.Ala333Val) c.1073C>T (p.Ala358Val) c.845C>T (p.Ala282Val) | |
| 7 | g.107917369T>A | CA457109473 | DLD | c.1143T>A (p.Ala381=) c.*817T>A (n.*817T>A) c.999T>A (p.Ala333=) c.1074T>A (p.Ala358=) c.846T>A (p.Ala282=) | |
| 7 | g.107917369T>C | CA457109474 | DLD | c.1143T>C (p.Ala381=) c.*817T>C (n.*817T>C) c.999T>C (p.Ala333=) c.1074T>C (p.Ala358=) c.846T>C (p.Ala282=) | gnomAD v4 |
| 7 | g.107917369T>G | CA457109475 | DLD | c.1143T>G (p.Ala381=) c.*817T>G (n.*817T>G) c.999T>G (p.Ala333=) c.1074T>G (p.Ala358=) c.846T>G (p.Ala282=) | |
| 7 | g.107917369_107917371del | CA2578990198 | DLD | c.1143_1145del (p.Val382del) c.*817_*819del (n.*817_*819del) c.999_1001del (p.Val334del) c.1074_1076del (p.Val359del) c.846_848del (p.Val283del) | |
| 7 | g.107917370G>A | CA164258411 | DLD | c.1144G>A (p.Val382Met) c.*818G>A (n.*818G>A) c.1000G>A (p.Val334Met) c.1075G>A (p.Val359Met) c.847G>A (p.Val283Met) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.107917370G>C | CA368858335 | DLD | c.1144G>C (p.Val382Leu) c.*818G>C (n.*818G>C) c.1000G>C (p.Val334Leu) c.1075G>C (p.Val359Leu) c.847G>C (p.Val283Leu) | gnomAD v4 |
| 7 | g.107917370G= | CA1732860049 | DLD | c.1144G= (p.Val382=) c.*818G= (n.*818G=) c.1000G= (p.Val334=) c.1075G= (p.Val359=) c.847G= (p.Val283=) | |
| 7 | g.107917370G>T | CA368858337 | DLD | c.1144G>T (p.Val382Leu) c.*818G>T (n.*818G>T) c.1000G>T (p.Val334Leu) c.1075G>T (p.Val359Leu) c.847G>T (p.Val283Leu) | |
| 7 | g.107917371T>A | CA368858339 | DLD | c.1145T>A (p.Val382Glu) c.*819T>A (n.*819T>A) c.1001T>A (p.Val334Glu) c.1076T>A (p.Val359Glu) c.848T>A (p.Val283Glu) | |
| 7 | g.107917371T>C | CA368858341 | DLD | c.1145T>C (p.Val382Ala) c.*819T>C (n.*819T>C) c.1001T>C (p.Val334Ala) c.1076T>C (p.Val359Ala) c.848T>C (p.Val283Ala) | |
| 7 | g.107917371T>G | CA368858342 | DLD | c.1145T>G (p.Val382Gly) c.*819T>G (n.*819T>G) c.1001T>G (p.Val334Gly) c.1076T>G (p.Val359Gly) c.848T>G (p.Val283Gly) | dbSNP |
| 7 | g.107917371T= | CA1732860050 | DLD | c.1145T= (p.Val382=) c.*819T= (n.*819T=) c.1001T= (p.Val334=) c.1076T= (p.Val359=) c.848T= (p.Val283=) | |
| 7 | g.107917372G>A | CA457109476 | DLD | c.1146G>A (p.Val382=) c.*820G>A (n.*820G>A) c.1002G>A (p.Val334=) c.1077G>A (p.Val359=) c.849G>A (p.Val283=) | |
| 7 | g.107917372G>C | CA457109477 | DLD | c.1146G>C (p.Val382=) c.*820G>C (n.*820G>C) c.1002G>C (p.Val334=) c.1077G>C (p.Val359=) c.849G>C (p.Val283=) | |
| 7 | g.107917372G>T | CA457109478 | DLD | c.1146G>T (p.Val382=) c.*820G>T (n.*820G>T) c.1002G>T (p.Val334=) c.1077G>T (p.Val359=) c.849G>T (p.Val283=) | |
| 7 | g.107917373C>A | CA4434633 | DLD | c.1147C>A (p.His383Asn) c.*821C>A (n.*821C>A) c.1003C>A (p.His335Asn) c.1078C>A (p.His360Asn) c.850C>A (p.His284Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.107917373C= | CA1732860051 | DLD | c.1147C= (p.His383=) c.*821C= (n.*821C=) c.1003C= (p.His335=) c.1078C= (p.His360=) c.850C= (p.His284=) | |
| 7 | g.107917373C>G | CA368858344 | DLD | c.1147C>G (p.His383Asp) c.*821C>G (n.*821C>G) c.1003C>G (p.His335Asp) c.1078C>G (p.His360Asp) c.850C>G (p.His284Asp) | gnomAD v4 |
| 7 | g.107917373C>T | CA368858346 | DLD | c.1147C>T (p.His383Tyr) c.*821C>T (n.*821C>T) c.1003C>T (p.His335Tyr) c.1078C>T (p.His360Tyr) c.850C>T (p.His284Tyr) | |
| 7 | g.107917374A= | CA1732860052 | DLD | c.1148A= (p.His383=) c.*822A= (n.*822A=) c.1004A= (p.His335=) c.1079A= (p.His360=) c.851A= (p.His284=) | |
| 7 | g.107917374A>C | CA368858348 | DLD | c.1148A>C (p.His383Pro) c.*822A>C (n.*822A>C) c.1004A>C (p.His335Pro) c.1079A>C (p.His360Pro) c.851A>C (p.His284Pro) | dbSNP gnomAD v2 |
| 7 | g.107917374A>G | CA368858350 | DLD | c.1148A>G (p.His383Arg) c.*822A>G (n.*822A>G) c.1004A>G (p.His335Arg) c.1079A>G (p.His360Arg) c.851A>G (p.His284Arg) | ClinVar |
| 7 | g.107917374A>T | CA368858347 | DLD | c.1148A>T (p.His383Leu) c.*822A>T (n.*822A>T) c.1004A>T (p.His335Leu) c.1079A>T (p.His360Leu) c.851A>T (p.His284Leu) | gnomAD v4 |
| 7 | g.107917375C>A | CA368858351 | DLD | c.1149C>A (p.His383Gln) c.*823C>A (n.*823C>A) c.1005C>A (p.His335Gln) c.1080C>A (p.His360Gln) c.852C>A (p.His284Gln) | |
| 7 | g.107917375C>G | CA368858353 | DLD | c.1149C>G (p.His383Gln) c.*823C>G (n.*823C>G) c.1005C>G (p.His335Gln) c.1080C>G (p.His360Gln) c.852C>G (p.His284Gln) | gnomAD v4 |
| 7 | g.107917375C>T | CA457109479 | DLD | c.1149C>T (p.His383=) c.*823C>T (n.*823C>T) c.1005C>T (p.His335=) c.1080C>T (p.His360=) c.852C>T (p.His284=) | gnomAD v4 |
| 7 | g.107917376A= | CA1732860053 | DLD | c.1150A= (p.Ile384=) c.*824A= (n.*824A=) c.1006A= (p.Ile336=) c.1081A= (p.Ile361=) c.853A= (p.Ile285=) | |
| 7 | g.107917376A>C | CA368858355 | DLD | c.1150A>C (p.Ile384Leu) c.*824A>C (n.*824A>C) c.1006A>C (p.Ile336Leu) c.1081A>C (p.Ile361Leu) c.853A>C (p.Ile285Leu) | |
| 7 | g.107917376A>G | CA4434635 | DLD | c.1150A>G (p.Ile384Val) c.*824A>G (n.*824A>G) c.1006A>G (p.Ile336Val) c.1081A>G (p.Ile361Val) c.853A>G (p.Ile285Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.107917376A>T | CA4434634 | DLD | c.1150A>T (p.Ile384Phe) c.*824A>T (n.*824A>T) c.1006A>T (p.Ile336Phe) c.1081A>T (p.Ile361Phe) c.853A>T (p.Ile285Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107917377T>A | CA368858358 | DLD | c.1151T>A (p.Ile384Asn) c.*825T>A (n.*825T>A) c.1007T>A (p.Ile336Asn) c.1082T>A (p.Ile361Asn) c.854T>A (p.Ile285Asn) | |
| 7 | g.107917377T>C | CA368858360 | DLD | c.1151T>C (p.Ile384Thr) c.*825T>C (n.*825T>C) c.1007T>C (p.Ile336Thr) c.1082T>C (p.Ile361Thr) c.854T>C (p.Ile285Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.107917377T>G | CA368858359 | DLD | c.1151T>G (p.Ile384Ser) c.*825T>G (n.*825T>G) c.1007T>G (p.Ile336Ser) c.1082T>G (p.Ile361Ser) c.854T>G (p.Ile285Ser) | |
| 7 | g.107917377T= | CA1732860054 | DLD | c.1151T= (p.Ile384=) c.*825T= (n.*825T=) c.1007T= (p.Ile336=) c.1082T= (p.Ile361=) c.854T= (p.Ile285=) | |
| 7 | g.107917378T>A | CA457109480 | DLD | c.1152T>A (p.Ile384=) c.*826T>A (n.*826T>A) c.1008T>A (p.Ile336=) c.1083T>A (p.Ile361=) c.855T>A (p.Ile285=) | |
| 7 | g.107917378T>C | CA457109481 | DLD | c.1152T>C (p.Ile384=) c.*826T>C (n.*826T>C) c.1008T>C (p.Ile336=) c.1083T>C (p.Ile361=) c.855T>C (p.Ile285=) | |
| 7 | g.107917378T>G | CA368858362 | DLD | c.1152T>G (p.Ile384Met) c.*826T>G (n.*826T>G) c.1008T>G (p.Ile336Met) c.1083T>G (p.Ile361Met) c.855T>G (p.Ile285Met) | |
| 7 | g.107917379G>A | CA368858366 | DLD | c.1153G>A (p.Asp385Asn) c.*827G>A (n.*827G>A) c.1009G>A (p.Asp337Asn) c.1084G>A (p.Asp362Asn) c.856G>A (p.Asp286Asn) | |
| 7 | g.107917379G>C | CA368858363 | DLD | c.1153G>C (p.Asp385His) c.*827G>C (n.*827G>C) c.1009G>C (p.Asp337His) c.1084G>C (p.Asp362His) c.856G>C (p.Asp286His) | dbSNP |
| 7 | g.107917379G= | CA1732860055 | DLD | c.1153G= (p.Asp385=) c.*827G= (n.*827G=) c.1009G= (p.Asp337=) c.1084G= (p.Asp362=) c.856G= (p.Asp286=) | |
| 7 | g.107917379G>T | CA368858365 | DLD | c.1153G>T (p.Asp385Tyr) c.*827G>T (n.*827G>T) c.1009G>T (p.Asp337Tyr) c.1084G>T (p.Asp362Tyr) c.856G>T (p.Asp286Tyr) | |
| 7 | g.107917380A>C | CA368858368 | DLD | c.1154A>C (p.Asp385Ala) c.*828A>C (n.*828A>C) c.1010A>C (p.Asp337Ala) c.1085A>C (p.Asp362Ala) c.857A>C (p.Asp286Ala) | |
| 7 | g.107917380A>G | CA368858370 | DLD | c.1154A>G (p.Asp385Gly) c.*828A>G (n.*828A>G) c.1010A>G (p.Asp337Gly) c.1085A>G (p.Asp362Gly) c.857A>G (p.Asp286Gly) | |
| 7 | g.107917380A>T | CA368858372 | DLD | c.1154A>T (p.Asp385Val) c.*828A>T (n.*828A>T) c.1010A>T (p.Asp337Val) c.1085A>T (p.Asp362Val) c.857A>T (p.Asp286Val) | gnomAD v4 |
| 7 | g.107917381C>A | CA368858373 | DLD | c.1155C>A (p.Asp385Glu) c.*829C>A (n.*829C>A) c.1011C>A (p.Asp337Glu) c.1086C>A (p.Asp362Glu) c.858C>A (p.Asp286Glu) | |
| 7 | g.107917381C= | CA1732860056 | DLD | c.1155C= (p.Asp385=) c.*829C= (n.*829C=) c.1011C= (p.Asp337=) c.1086C= (p.Asp362=) c.858C= (p.Asp286=) | |
| 7 | g.107917381C>G | CA164258419 | DLD | c.1155C>G (p.Asp385Glu) c.*829C>G (n.*829C>G) c.1011C>G (p.Asp337Glu) c.1086C>G (p.Asp362Glu) c.858C>G (p.Asp286Glu) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.107917381C>T | CA457109482 | DLD | c.1155C>T (p.Asp385=) c.*829C>T (n.*829C>T) c.1011C>T (p.Asp337=) c.1086C>T (p.Asp362=) c.858C>T (p.Asp286=) | |
| 7 | g.107917382T>A | CA368858378 | DLD | c.1156T>A (p.Tyr386Asn) c.*830T>A (n.*830T>A) c.1012T>A (p.Tyr338Asn) c.1087T>A (p.Tyr363Asn) c.859T>A (p.Tyr287Asn) | |
| 7 | g.107917382T>C | CA368858376 | DLD | c.1156T>C (p.Tyr386His) c.*830T>C (n.*830T>C) c.1012T>C (p.Tyr338His) c.1087T>C (p.Tyr363His) c.859T>C (p.Tyr287His) | |
| 7 | g.107917382T>G | CA368858377 | DLD | c.1156T>G (p.Tyr386Asp) c.*830T>G (n.*830T>G) c.1012T>G (p.Tyr338Asp) c.1087T>G (p.Tyr363Asp) c.859T>G (p.Tyr287Asp) | |
| 7 | g.107917383A= | CA1732860057 | DLD | c.1157A= (p.Tyr386=) c.*831A= (n.*831A=) c.1013A= (p.Tyr338=) c.1088A= (p.Tyr363=) c.860A= (p.Tyr287=) | |
| 7 | g.107917383A>C | CA368858380 | DLD | c.1157A>C (p.Tyr386Ser) c.*831A>C (n.*831A>C) c.1013A>C (p.Tyr338Ser) c.1088A>C (p.Tyr363Ser) c.860A>C (p.Tyr287Ser) | |
| 7 | g.107917383A>G | CA4434636 | DLD | c.1157A>G (p.Tyr386Cys) c.*831A>G (n.*831A>G) c.1013A>G (p.Tyr338Cys) c.1088A>G (p.Tyr363Cys) c.860A>G (p.Tyr287Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107917383A>T | CA368858382 | DLD | c.1157A>T (p.Tyr386Phe) c.*831A>T (n.*831A>T) c.1013A>T (p.Tyr338Phe) c.1088A>T (p.Tyr363Phe) c.860A>T (p.Tyr287Phe) | |
| 7 | g.107917384C>A | CA368858383 | DLD | c.1158C>A (p.Tyr386Ter) c.*832C>A (n.*832C>A) c.1014C>A (p.Tyr338Ter) c.1089C>A (p.Tyr363Ter) c.861C>A (p.Tyr287Ter) | |
| 7 | g.107917384C>G | CA368858384 | DLD | c.1158C>G (p.Tyr386Ter) c.*832C>G (n.*832C>G) c.1014C>G (p.Tyr338Ter) c.1089C>G (p.Tyr363Ter) c.861C>G (p.Tyr287Ter) | ClinVar |
| 7 | g.107917384C>T | CA457109483 | DLD | c.1158C>T (p.Tyr386=) c.*832C>T (n.*832C>T) c.1014C>T (p.Tyr338=) c.1089C>T (p.Tyr363=) c.861C>T (p.Tyr287=) | ClinVar |
| 7 | g.107917385A= | CA1732860058 | DLD | c.1159A= (p.Asn387=) c.*833A= (n.*833A=) c.1015A= (p.Asn339=) c.1090A= (p.Asn364=) c.862A= (p.Asn288=) | |
| 7 | g.107917385A>C | CA368858389 | DLD | c.1159A>C (p.Asn387His) c.*833A>C (n.*833A>C) c.1015A>C (p.Asn339His) c.1090A>C (p.Asn364His) c.862A>C (p.Asn288His) | |
| 7 | g.107917385A>G | CA368858386 | DLD | c.1159A>G (p.Asn387Asp) c.*833A>G (n.*833A>G) c.1015A>G (p.Asn339Asp) c.1090A>G (p.Asn364Asp) c.862A>G (p.Asn288Asp) | dbSNP |
| 7 | g.107917385A>T | CA368858388 | DLD | c.1159A>T (p.Asn387Tyr) c.*833A>T (n.*833A>T) c.1015A>T (p.Asn339Tyr) c.1090A>T (p.Asn364Tyr) c.862A>T (p.Asn288Tyr) | |
| 7 | g.107917386A= | CA1732860059 | DLD | c.1160A= (p.Asn387=) c.*834A= (n.*834A=) c.1016A= (p.Asn339=) c.1091A= (p.Asn364=) c.863A= (p.Asn288=) | |
| 7 | g.107917386A>C | CA368858391 | DLD | c.1160A>C (p.Asn387Thr) c.*834A>C (n.*834A>C) c.1016A>C (p.Asn339Thr) c.1091A>C (p.Asn364Thr) c.863A>C (p.Asn288Thr) | |
| 7 | g.107917386A>G | CA164258425 | DLD | c.1160A>G (p.Asn387Ser) c.*834A>G (n.*834A>G) c.1016A>G (p.Asn339Ser) c.1091A>G (p.Asn364Ser) c.863A>G (p.Asn288Ser) | dbSNP gnomAD v4 |
| 7 | g.107917386A>T | CA368858392 | DLD | c.1160A>T (p.Asn387Ile) c.*834A>T (n.*834A>T) c.1016A>T (p.Asn339Ile) c.1091A>T (p.Asn364Ile) c.863A>T (p.Asn288Ile) | |
| 7 | g.107917387T>A | CA368858393 | DLD | c.1161T>A (p.Asn387Lys) c.*835T>A (n.*835T>A) c.1017T>A (p.Asn339Lys) c.1092T>A (p.Asn364Lys) c.864T>A (p.Asn288Lys) | |
| 7 | g.107917387T>C | CA457109484 | DLD | c.1161T>C (p.Asn387=) c.*835T>C (n.*835T>C) c.1017T>C (p.Asn339=) c.1092T>C (p.Asn364=) c.864T>C (p.Asn288=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.107917387T>G | CA368858395 | DLD | c.1161T>G (p.Asn387Lys) c.*835T>G (n.*835T>G) c.1017T>G (p.Asn339Lys) c.1092T>G (p.Asn364Lys) c.864T>G (p.Asn288Lys) | |
| 7 | g.107917387T= | CA1732860060 | DLD | c.1161T= (p.Asn387=) c.*835T= (n.*835T=) c.1017T= (p.Asn339=) c.1092T= (p.Asn364=) c.864T= (p.Asn288=) | |
| 7 | g.107917388T>A | CA368858397 | DLD | c.1162T>A (p.Cys388Ser) c.*836T>A (n.*836T>A) c.1018T>A (p.Cys340Ser) c.1093T>A (p.Cys365Ser) c.865T>A (p.Cys289Ser) | |
| 7 | g.107917388T>C | CA368858398 | DLD | c.1162T>C (p.Cys388Arg) c.*836T>C (n.*836T>C) c.1018T>C (p.Cys340Arg) c.1093T>C (p.Cys365Arg) c.865T>C (p.Cys289Arg) | |
| 7 | g.107917388T>G | CA368858400 | DLD | c.1162T>G (p.Cys388Gly) c.*836T>G (n.*836T>G) c.1018T>G (p.Cys340Gly) c.1093T>G (p.Cys365Gly) c.865T>G (p.Cys289Gly) | |
| 7 | g.107917389G>A | CA368858402 | DLD | c.1163G>A (p.Cys388Tyr) c.*837G>A (n.*837G>A) c.1019G>A (p.Cys340Tyr) c.1094G>A (p.Cys365Tyr) c.866G>A (p.Cys289Tyr) | |
| 7 | g.107917389G>C | CA368858403 | DLD | c.1163G>C (p.Cys388Ser) c.*837G>C (n.*837G>C) c.1019G>C (p.Cys340Ser) c.1094G>C (p.Cys365Ser) c.866G>C (p.Cys289Ser) | |
| 7 | g.107917389G>T | CA368858405 | DLD | c.1163G>T (p.Cys388Phe) c.*837G>T (n.*837G>T) c.1019G>T (p.Cys340Phe) c.1094G>T (p.Cys365Phe) c.866G>T (p.Cys289Phe) | |
| 7 | g.107917390T>A | CA368858406 | DLD | c.1164T>A (p.Cys388Ter) c.*838T>A (n.*838T>A) c.1020T>A (p.Cys340Ter) c.1095T>A (p.Cys365Ter) c.867T>A (p.Cys289Ter) | |
| 7 | g.107917390T>C | CA457109485 | DLD | c.1164T>C (p.Cys388=) c.*838T>C (n.*838T>C) c.1020T>C (p.Cys340=) c.1095T>C (p.Cys365=) c.867T>C (p.Cys289=) | gnomAD v4 |
| 7 | g.107917390T>G | CA368858410 | DLD | c.1164T>G (p.Cys388Trp) c.*838T>G (n.*838T>G) c.1020T>G (p.Cys340Trp) c.1095T>G (p.Cys365Trp) c.867T>G (p.Cys289Trp) | |
| 7 | g.107917391G>A | CA368858411 | DLD | c.1165G>A (p.Val389Met) c.*839G>A (n.*839G>A) c.1021G>A (p.Val341Met) c.1096G>A (p.Val366Met) c.868G>A (p.Val290Met) | gnomAD v4 |
| 7 | g.107917391G>C | CA368858414 | DLD | c.1165G>C (p.Val389Leu) c.*839G>C (n.*839G>C) c.1021G>C (p.Val341Leu) c.1096G>C (p.Val366Leu) c.868G>C (p.Val290Leu) | |
| 7 | g.107917391G>T | CA368858413 | DLD | c.1165G>T (p.Val389Leu) c.*839G>T (n.*839G>T) c.1021G>T (p.Val341Leu) c.1096G>T (p.Val366Leu) c.868G>T (p.Val290Leu) | |
| 7 | g.107917392T>A | CA368858416 | DLD | c.1166T>A (p.Val389Glu) c.*840T>A (n.*840T>A) c.1022T>A (p.Val341Glu) c.1097T>A (p.Val366Glu) c.869T>A (p.Val290Glu) | COSMIC COSMIC |
| 7 | g.107917392T>C | CA368858417 | DLD | c.1166T>C (p.Val389Ala) c.*840T>C (n.*840T>C) c.1022T>C (p.Val341Ala) c.1097T>C (p.Val366Ala) c.869T>C (p.Val290Ala) | |
| 7 | g.107917392T>G | CA368858419 | DLD | c.1166T>G (p.Val389Gly) c.*840T>G (n.*840T>G) c.1022T>G (p.Val341Gly) c.1097T>G (p.Val366Gly) c.869T>G (p.Val290Gly) | |
| 7 | g.107917393G>A | CA457109486 | DLD | c.1167G>A (p.Val389=) c.*841G>A (n.*841G>A) c.1023G>A (p.Val341=) c.1098G>A (p.Val366=) c.870G>A (p.Val290=) | |
| 7 | g.107917393G>C | CA457109487 | DLD | c.1167G>C (p.Val389=) c.*841G>C (n.*841G>C) c.1023G>C (p.Val341=) c.1098G>C (p.Val366=) c.870G>C (p.Val290=) | |
| 7 | g.107917393G= | CA1732860061 | DLD | c.1167G= (p.Val389=) c.*841G= (n.*841G=) c.1023G= (p.Val341=) c.1098G= (p.Val366=) c.870G= (p.Val290=) | |
| 7 | g.107917393G>T | CA457109488 | DLD | c.1167G>T (p.Val389=) c.*841G>T (n.*841G>T) c.1023G>T (p.Val341=) c.1098G>T (p.Val366=) c.870G>T (p.Val290=) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.107917394C>A | CA368858421 | DLD | c.1168C>A (p.Pro390Thr) c.*842C>A (n.*842C>A) c.1024C>A (p.Pro342Thr) c.1099C>A (p.Pro367Thr) c.871C>A (p.Pro291Thr) | |
| 7 | g.107917394C>G | CA368858422 | DLD | c.1168C>G (p.Pro390Ala) c.*842C>G (n.*842C>G) c.1024C>G (p.Pro342Ala) c.1099C>G (p.Pro367Ala) c.871C>G (p.Pro291Ala) | |
| 7 | g.107917394C>T | CA368858424 | DLD | c.1168C>T (p.Pro390Ser) c.*842C>T (n.*842C>T) c.1024C>T (p.Pro342Ser) c.1099C>T (p.Pro367Ser) c.871C>T (p.Pro291Ser) | COSMIC COSMIC |
| 7 | g.107917395C>A | CA368858426 | DLD | c.1169C>A (p.Pro390Gln) c.*843C>A (n.*843C>A) c.1025C>A (p.Pro342Gln) c.1100C>A (p.Pro367Gln) c.872C>A (p.Pro291Gln) | |
| 7 | g.107917395C>G | CA368858427 | DLD | c.1169C>G (p.Pro390Arg) c.*843C>G (n.*843C>G) c.1025C>G (p.Pro342Arg) c.1100C>G (p.Pro367Arg) c.872C>G (p.Pro291Arg) | |
| 7 | g.107917395C>T | CA368858429 | DLD | c.1169C>T (p.Pro390Leu) c.*843C>T (n.*843C>T) c.1025C>T (p.Pro342Leu) c.1100C>T (p.Pro367Leu) c.872C>T (p.Pro291Leu) | |
| 7 | g.107917396A>C | CA457109489 | DLD | c.1170A>C (p.Pro390=) c.*844A>C (n.*844A>C) c.1026A>C (p.Pro342=) c.1101A>C (p.Pro367=) c.873A>C (p.Pro291=) | |
| 7 | g.107917396A>G | CA457109490 | DLD | c.1170A>G (p.Pro390=) c.*844A>G (n.*844A>G) c.1026A>G (p.Pro342=) c.1101A>G (p.Pro367=) c.873A>G (p.Pro291=) | gnomAD v4 |
| 7 | g.107917396A>T | CA457109491 | DLD | c.1170A>T (p.Pro390=) c.*844A>T (n.*844A>T) c.1026A>T (p.Pro342=) c.1101A>T (p.Pro367=) c.873A>T (p.Pro291=) | |
| 7 | g.107917397T>A | CA368858431 | DLD | c.1171T>A (p.Ser391Thr) c.*845T>A (n.*845T>A) c.1027T>A (p.Ser343Thr) c.1102T>A (p.Ser368Thr) c.874T>A (p.Ser292Thr) | |
| 7 | g.107917397T>C | CA368858432 | DLD | c.1171T>C (p.Ser391Pro) c.*845T>C (n.*845T>C) c.1027T>C (p.Ser343Pro) c.1102T>C (p.Ser368Pro) c.874T>C (p.Ser292Pro) | |
| 7 | g.107917397T>G | CA368858433 | DLD | c.1171T>G (p.Ser391Ala) c.*845T>G (n.*845T>G) c.1027T>G (p.Ser343Ala) c.1102T>G (p.Ser368Ala) c.874T>G (p.Ser292Ala) | |
| 7 | g.107917398C>A | CA368858437 | DLD | c.1172C>A (p.Ser391Ter) c.*846C>A (n.*846C>A) c.1028C>A (p.Ser343Ter) c.1103C>A (p.Ser368Ter) c.875C>A (p.Ser292Ter) | |
| 7 | g.107917398C>G | CA368858439 | DLD | c.1172C>G (p.Ser391Ter) c.*846C>G (n.*846C>G) c.1028C>G (p.Ser343Ter) c.1103C>G (p.Ser368Ter) c.875C>G (p.Ser292Ter) | |
| 7 | g.107917398C>T | CA368858435 | DLD | c.1172C>T (p.Ser391Leu) c.*846C>T (n.*846C>T) c.1028C>T (p.Ser343Leu) c.1103C>T (p.Ser368Leu) c.875C>T (p.Ser292Leu) | |
| 7 | g.107917399A>C | CA457109492 | DLD | c.1173A>C (p.Ser391=) c.*847A>C (n.*847A>C) c.1029A>C (p.Ser343=) c.1104A>C (p.Ser368=) c.876A>C (p.Ser292=) | |
| 7 | g.107917399A>G | CA457109493 | DLD | c.1173A>G (p.Ser391=) c.*847A>G (n.*847A>G) c.1029A>G (p.Ser343=) c.1104A>G (p.Ser368=) c.876A>G (p.Ser292=) | ClinVar |
| 7 | g.107917399A>T | CA457109494 | DLD | c.1173A>T (p.Ser391=) c.*847A>T (n.*847A>T) c.1029A>T (p.Ser343=) c.1104A>T (p.Ser368=) c.876A>T (p.Ser292=) | |
| 7 | g.107917400G>A | CA368858440 | DLD | c.1174G>A (p.Val392Met) c.*848G>A (n.*848G>A) c.1030G>A (p.Val344Met) c.1105G>A (p.Val369Met) c.877G>A (p.Val293Met) | |
| 7 | g.107917400G>C | CA368858442 | DLD | c.1174G>C (p.Val392Leu) c.*848G>C (n.*848G>C) c.1030G>C (p.Val344Leu) c.1105G>C (p.Val369Leu) c.877G>C (p.Val293Leu) | |
| 7 | g.107917400G>T | CA368858444 | DLD | c.1174G>T (p.Val392Leu) c.*848G>T (n.*848G>T) c.1030G>T (p.Val344Leu) c.1105G>T (p.Val369Leu) c.877G>T (p.Val293Leu) | |
| 7 | g.107917401T>A | CA368858445 | DLD | c.1175T>A (p.Val392Glu) c.*849T>A (n.*849T>A) c.1031T>A (p.Val344Glu) c.1106T>A (p.Val369Glu) c.878T>A (p.Val293Glu) | |
| 7 | g.107917401T>C | CA368858447 | DLD | c.1175T>C (p.Val392Ala) c.*849T>C (n.*849T>C) c.1031T>C (p.Val344Ala) c.1106T>C (p.Val369Ala) c.878T>C (p.Val293Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.107917401T>G | CA368858448 | DLD | c.1175T>G (p.Val392Gly) c.*849T>G (n.*849T>G) c.1031T>G (p.Val344Gly) c.1106T>G (p.Val369Gly) c.878T>G (p.Val293Gly) | |
| 7 | g.107917401T= | CA1732860062 | DLD | c.1175T= (p.Val392=) c.*849T= (n.*849T=) c.1031T= (p.Val344=) c.1106T= (p.Val369=) c.878T= (p.Val293=) | |
| 7 | g.107917402G>A | CA457109495 | DLD | c.1176G>A (p.Val392=) c.*850G>A (n.*850G>A) c.1032G>A (p.Val344=) c.1107G>A (p.Val369=) c.879G>A (p.Val293=) | |
| 7 | g.107917402G>C | CA457109496 | DLD | c.1176G>C (p.Val392=) c.*850G>C (n.*850G>C) c.1032G>C (p.Val344=) c.1107G>C (p.Val369=) c.879G>C (p.Val293=) | |
| 7 | g.107917402G>T | CA457109497 | DLD | c.1176G>T (p.Val392=) c.*850G>T (n.*850G>T) c.1032G>T (p.Val344=) c.1107G>T (p.Val369=) c.879G>T (p.Val293=) | |
| 7 | g.107917403A= | CA1732860063 | DLD | c.1177A= (p.Ile393=) c.*851A= (n.*851A=) c.1033A= (p.Ile345=) c.1108A= (p.Ile370=) c.880A= (p.Ile294=) | |
| 7 | g.107917403A>C | CA368858450 | DLD | c.1177A>C (p.Ile393Leu) c.*851A>C (n.*851A>C) c.1033A>C (p.Ile345Leu) c.1108A>C (p.Ile370Leu) c.880A>C (p.Ile294Leu) | dbSNP gnomAD v4 |
| 7 | g.107917403A>G | CA368858453 | DLD | c.1177A>G (p.Ile393Val) c.*851A>G (n.*851A>G) c.1033A>G (p.Ile345Val) c.1108A>G (p.Ile370Val) c.880A>G (p.Ile294Val) | |
| 7 | g.107917403A>T | CA368858451 | DLD | c.1177A>T (p.Ile393Phe) c.*851A>T (n.*851A>T) c.1033A>T (p.Ile345Phe) c.1108A>T (p.Ile370Phe) c.880A>T (p.Ile294Phe) | |
| 7 | g.107917404T>A | CA368858455 | DLD | c.1178T>A (p.Ile393Asn) c.*852T>A (n.*852T>A) c.1034T>A (p.Ile345Asn) c.1109T>A (p.Ile370Asn) c.881T>A (p.Ile294Asn) | |
| 7 | g.107917404T>C | CA256135 | DLD | c.1178T>C (p.Ile393Thr) c.*852T>C (n.*852T>C) c.1034T>C (p.Ile345Thr) c.1109T>C (p.Ile370Thr) c.881T>C (p.Ile294Thr) | ClinVar dbSNP |
| 7 | g.107917404T>G | CA368858457 | DLD | c.1178T>G (p.Ile393Ser) c.*852T>G (n.*852T>G) c.1034T>G (p.Ile345Ser) c.1109T>G (p.Ile370Ser) c.881T>G (p.Ile294Ser) | |
| 7 | g.107917404T= | CA1732860064 | DLD | c.1178T= (p.Ile393=) c.*852T= (n.*852T=) c.1034T= (p.Ile345=) c.1109T= (p.Ile370=) c.881T= (p.Ile294=) | |
| 7 | g.107917405T>A | CA457109498 | DLD | c.1179T>A (p.Ile393=) c.*853T>A (n.*853T>A) c.1035T>A (p.Ile345=) c.1110T>A (p.Ile370=) c.882T>A (p.Ile294=) | dbSNP |
| 7 | g.107917405T>C | CA457109499 | DLD | c.1179T>C (p.Ile393=) c.*853T>C (n.*853T>C) c.1035T>C (p.Ile345=) c.1110T>C (p.Ile370=) c.882T>C (p.Ile294=) | ClinVar gnomAD v4 |
| 7 | g.107917405T>G | CA4434637 | DLD | c.1179T>G (p.Ile393Met) c.*853T>G (n.*853T>G) c.1035T>G (p.Ile345Met) c.1110T>G (p.Ile370Met) c.882T>G (p.Ile294Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107917405T= | CA1732860065 | DLD | c.1179T= (p.Ile393=) c.*853T= (n.*853T=) c.1035T= (p.Ile345=) c.1110T= (p.Ile370=) c.882T= (p.Ile294=) | |
| 7 | g.107917406T>A | CA368858462 | DLD | c.1180T>A (p.Tyr394Asn) c.*854T>A (n.*854T>A) c.1036T>A (p.Tyr346Asn) c.1111T>A (p.Tyr371Asn) c.883T>A (p.Tyr295Asn) | gnomAD v4 |
| 7 | g.107917406T>C | CA368858459 | DLD | c.1180T>C (p.Tyr394His) c.*854T>C (n.*854T>C) c.1036T>C (p.Tyr346His) c.1111T>C (p.Tyr371His) c.883T>C (p.Tyr295His) | |
| 7 | g.107917406T>G | CA368858461 | DLD | c.1180T>G (p.Tyr394Asp) c.*854T>G (n.*854T>G) c.1036T>G (p.Tyr346Asp) c.1111T>G (p.Tyr371Asp) c.883T>G (p.Tyr295Asp) | gnomAD v4 |
| 7 | g.107917407A>C | CA368858464 | DLD | c.1181A>C (p.Tyr394Ser) c.*855A>C (n.*855A>C) c.1037A>C (p.Tyr346Ser) c.1112A>C (p.Tyr371Ser) c.884A>C (p.Tyr295Ser) | |
| 7 | g.107917407A>G | CA368858465 | DLD | c.1181A>G (p.Tyr394Cys) c.*855A>G (n.*855A>G) c.1037A>G (p.Tyr346Cys) c.1112A>G (p.Tyr371Cys) c.884A>G (p.Tyr295Cys) | |
| 7 | g.107917407A>T | CA368858466 | DLD | c.1181A>T (p.Tyr394Phe) c.*855A>T (n.*855A>T) c.1037A>T (p.Tyr346Phe) c.1112A>T (p.Tyr371Phe) c.884A>T (p.Tyr295Phe) | gnomAD v4 |
| 7 | g.107917413_107917414del | CA2580617077 | DLD | c.1187_1188del (p.His396ProfsTer2) c.*861_*862del (n.*861_*862del) c.1043_1044del (p.His348ProfsTer2) c.1118_1119del (p.His373ProfsTer2) c.890_891del (p.His297ProfsTer2) | ClinVar |
| 7 | g.107917408C>A | CA368858468 | DLD | c.1182C>A (p.Tyr394Ter) c.*856C>A (n.*856C>A) c.1038C>A (p.Tyr346Ter) c.1113C>A (p.Tyr371Ter) c.885C>A (p.Tyr295Ter) | |
| 7 | g.107917408C= | CA1732860066 | DLD | c.1182C= (p.Tyr394=) c.*856C= (n.*856C=) c.1038C= (p.Tyr346=) c.1113C= (p.Tyr371=) c.885C= (p.Tyr295=) | |
| 7 | g.107917408C>G | CA368858470 | DLD | c.1182C>G (p.Tyr394Ter) c.*856C>G (n.*856C>G) c.1038C>G (p.Tyr346Ter) c.1113C>G (p.Tyr371Ter) c.885C>G (p.Tyr295Ter) | ClinVar dbSNP COSMIC COSMIC |
| 7 | g.107917408C>T | CA4434638 | DLD | c.1182C>T (p.Tyr394=) c.*856C>T (n.*856C>T) c.1038C>T (p.Tyr346=) c.1113C>T (p.Tyr371=) c.885C>T (p.Tyr295=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.107917409A>C | CA368858475 | DLD | c.1183A>C (p.Thr395Pro) c.*857A>C (n.*857A>C) c.1039A>C (p.Thr347Pro) c.1114A>C (p.Thr372Pro) c.886A>C (p.Thr296Pro) | |
| 7 | g.107917409A>G | CA368858474 | DLD | c.1183A>G (p.Thr395Ala) c.*857A>G (n.*857A>G) c.1039A>G (p.Thr347Ala) c.1114A>G (p.Thr372Ala) c.886A>G (p.Thr296Ala) | |
| 7 | g.107917409A>T | CA368858472 | DLD | c.1183A>T (p.Thr395Ser) c.*857A>T (n.*857A>T) c.1039A>T (p.Thr347Ser) c.1114A>T (p.Thr372Ser) c.886A>T (p.Thr296Ser) | |
| 7 | g.107917410C>A | CA368858477 | DLD | c.1184C>A (p.Thr395Lys) c.*858C>A (n.*858C>A) c.1040C>A (p.Thr347Lys) c.1115C>A (p.Thr372Lys) c.887C>A (p.Thr296Lys) | |
| 7 | g.107917410C>G | CA368858479 | DLD | c.1184C>G (p.Thr395Arg) c.*858C>G (n.*858C>G) c.1040C>G (p.Thr347Arg) c.1115C>G (p.Thr372Arg) c.887C>G (p.Thr296Arg) | |
| 7 | g.107917410C>T | CA368858480 | DLD | c.1184C>T (p.Thr395Ile) c.*858C>T (n.*858C>T) c.1040C>T (p.Thr347Ile) c.1115C>T (p.Thr372Ile) c.887C>T (p.Thr296Ile) | gnomAD v4 |
| 7 | g.107917411A>C | CA457109500 | DLD | c.1185A>C (p.Thr395=) c.*859A>C (n.*859A>C) c.1041A>C (p.Thr347=) c.1116A>C (p.Thr372=) c.888A>C (p.Thr296=) | |
| 7 | g.107917411A>G | CA457109501 | DLD | c.1185A>G (p.Thr395=) c.*859A>G (n.*859A>G) c.1041A>G (p.Thr347=) c.1116A>G (p.Thr372=) c.888A>G (p.Thr296=) | |
| 7 | g.107917411A>T | CA457109502 | DLD | c.1185A>T (p.Thr395=) c.*859A>T (n.*859A>T) c.1041A>T (p.Thr347=) c.1116A>T (p.Thr372=) c.888A>T (p.Thr296=) | |
| 7 | g.107917411dup | CA2695199608 | DLD | c.1185dup (p.His396ThrfsTer3) c.*859dup (n.*859dup) c.1041dup (p.His348ThrfsTer3) c.1116dup (p.His373ThrfsTer3) c.888dup (p.His297ThrfsTer3) | ClinVar |
| 7 | g.107917412C>A | CA368858482 | DLD | c.1186C>A (p.His396Asn) c.*860C>A (n.*860C>A) c.1042C>A (p.His348Asn) c.1117C>A (p.His373Asn) c.889C>A (p.His297Asn) | |
| 7 | g.107917412C= | CA1732860067 | DLD | c.1186C= (p.His396=) c.*860C= (n.*860C=) c.1042C= (p.His348=) c.1117C= (p.His373=) c.889C= (p.His297=) | |
| 7 | g.107917412C>G | CA368858483 | DLD | c.1186C>G (p.His396Asp) c.*860C>G (n.*860C>G) c.1042C>G (p.His348Asp) c.1117C>G (p.His373Asp) c.889C>G (p.His297Asp) | |
| 7 | g.107917412C>T | CA368858485 | DLD | c.1186C>T (p.His396Tyr) c.*860C>T (n.*860C>T) c.1042C>T (p.His348Tyr) c.1117C>T (p.His373Tyr) c.889C>T (p.His297Tyr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107917413A>C | CA368858487 | DLD | c.1187A>C (p.His396Pro) c.*861A>C (n.*861A>C) c.1043A>C (p.His348Pro) c.1118A>C (p.His373Pro) c.890A>C (p.His297Pro) | |
| 7 | g.107917413A>G | CA368858489 | DLD | c.1187A>G (p.His396Arg) c.*861A>G (n.*861A>G) c.1043A>G (p.His348Arg) c.1118A>G (p.His373Arg) c.890A>G (p.His297Arg) | |
| 7 | g.107917413A>T | CA368858488 | DLD | c.1187A>T (p.His396Leu) c.*861A>T (n.*861A>T) c.1043A>T (p.His348Leu) c.1118A>T (p.His373Leu) c.890A>T (p.His297Leu) | |
| 7 | g.107917414C>A | CA4434640 | DLD | c.1188C>A (p.His396Gln) c.*862C>A (n.*862C>A) c.1044C>A (p.His348Gln) c.1119C>A (p.His373Gln) c.891C>A (p.His297Gln) | dbSNP ExAC gnomAD v4 |
| 7 | g.107917414C= | CA1732860068 | DLD | c.1188C= (p.His396=) c.*862C= (n.*862C=) c.1044C= (p.His348=) c.1119C= (p.His373=) c.891C= (p.His297=) | |
| 7 | g.107917414C>G | CA368858491 | DLD | c.1188C>G (p.His396Gln) c.*862C>G (n.*862C>G) c.1044C>G (p.His348Gln) c.1119C>G (p.His373Gln) c.891C>G (p.His297Gln) | |
| 7 | g.107917414C>T | CA4434639 | DLD | c.1188C>T (p.His396=) c.*862C>T (n.*862C>T) c.1044C>T (p.His348=) c.1119C>T (p.His373=) c.891C>T (p.His297=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.107917415C>A | CA368858493 | DLD | c.1189C>A (p.Pro397Thr) c.*863C>A (n.*863C>A) c.1045C>A (p.Pro349Thr) c.1120C>A (p.Pro374Thr) c.892C>A (p.Pro298Thr) | |
| 7 | g.107917415C>G | CA368858495 | DLD | c.1189C>G (p.Pro397Ala) c.*863C>G (n.*863C>G) c.1045C>G (p.Pro349Ala) c.1120C>G (p.Pro374Ala) c.892C>G (p.Pro298Ala) | |
| 7 | g.107917415C>T | CA368858496 | DLD | c.1189C>T (p.Pro397Ser) c.*863C>T (n.*863C>T) c.1045C>T (p.Pro349Ser) c.1120C>T (p.Pro374Ser) c.892C>T (p.Pro298Ser) | COSMIC COSMIC |
| 7 | g.107917416C>A | CA368858498 | DLD | c.1190C>A (p.Pro397His) c.*864C>A (n.*864C>A) c.1046C>A (p.Pro349His) c.1121C>A (p.Pro374His) c.893C>A (p.Pro298His) | |
| 7 | g.107917416C>G | CA368858499 | DLD | c.1190C>G (p.Pro397Arg) c.*864C>G (n.*864C>G) c.1046C>G (p.Pro349Arg) c.1121C>G (p.Pro374Arg) c.893C>G (p.Pro298Arg) | |
| 7 | g.107917416C>T | CA368858500 | DLD | c.1190C>T (p.Pro397Leu) c.*864C>T (n.*864C>T) c.1046C>T (p.Pro349Leu) c.1121C>T (p.Pro374Leu) c.893C>T (p.Pro298Leu) | |
| 7 | g.107917417T>A | CA457109503 | DLD | c.1191T>A (p.Pro397=) c.*865T>A (n.*865T>A) c.1047T>A (p.Pro349=) c.1122T>A (p.Pro374=) c.894T>A (p.Pro298=) | |
| 7 | g.107917417T>C | CA457109504 | DLD | c.1191T>C (p.Pro397=) c.*865T>C (n.*865T>C) c.1047T>C (p.Pro349=) c.1122T>C (p.Pro374=) c.894T>C (p.Pro298=) | ClinVar dbSNP |
| 7 | g.107917417T>G | CA457109505 | DLD | c.1191T>G (p.Pro397=) c.*865T>G (n.*865T>G) c.1047T>G (p.Pro349=) c.1122T>G (p.Pro374=) c.894T>G (p.Pro298=) | |
| 7 | g.107917418G>A | CA368858502 | DLD | c.1192G>A (p.Glu398Lys) c.*866G>A (n.*866G>A) c.1048G>A (p.Glu350Lys) c.1123G>A (p.Glu375Lys) c.895G>A (p.Glu299Lys) | |
| 7 | g.107917418G>C | CA368858503 | DLD | c.1192G>C (p.Glu398Gln) c.*866G>C (n.*866G>C) c.1048G>C (p.Glu350Gln) c.1123G>C (p.Glu375Gln) c.895G>C (p.Glu299Gln) | |
| 7 | g.107917418G>T | CA368858504 | DLD | c.1192G>T (p.Glu398Ter) c.*866G>T (n.*866G>T) c.1048G>T (p.Glu350Ter) c.1123G>T (p.Glu375Ter) c.895G>T (p.Glu299Ter) | |
| 7 | g.107917419A>C | CA368858506 | DLD | c.1193A>C (p.Glu398Ala) c.*867A>C (n.*867A>C) c.1049A>C (p.Glu350Ala) c.1124A>C (p.Glu375Ala) c.896A>C (p.Glu299Ala) | ClinVar |
| 7 | g.107917419A>G | CA368858509 | DLD | c.1193A>G (p.Glu398Gly) c.*867A>G (n.*867A>G) c.1049A>G (p.Glu350Gly) c.1124A>G (p.Glu375Gly) c.896A>G (p.Glu299Gly) | |
| 7 | g.107917419A>T | CA368858508 | DLD | c.1193A>T (p.Glu398Val) c.*867A>T (n.*867A>T) c.1049A>T (p.Glu350Val) c.1124A>T (p.Glu375Val) c.896A>T (p.Glu299Val) | |
| 7 | g.107917420A= | CA1732860069 | DLD | c.1194A= (p.Glu398=) c.*868A= (n.*868A=) c.1050A= (p.Glu350=) c.1125A= (p.Glu375=) c.897A= (p.Glu299=) | |
| 7 | g.107917420A>C | CA368858511 | DLD | c.1194A>C (p.Glu398Asp) c.*868A>C (n.*868A>C) c.1050A>C (p.Glu350Asp) c.1125A>C (p.Glu375Asp) c.897A>C (p.Glu299Asp) | |
| 7 | g.107917420A>G | CA164258444 | DLD | c.1194A>G (p.Glu398=) c.*868A>G (n.*868A>G) c.1050A>G (p.Glu350=) c.1125A>G (p.Glu375=) c.897A>G (p.Glu299=) | dbSNP |
| 7 | g.107917420A>T | CA368858513 | DLD | c.1194A>T (p.Glu398Asp) c.*868A>T (n.*868A>T) c.1050A>T (p.Glu350Asp) c.1125A>T (p.Glu375Asp) c.897A>T (p.Glu299Asp) | |
| 7 | g.107917421G>A | CA368858514 | DLD | c.1195G>A (p.Val399Ile) c.*869G>A (n.*869G>A) c.1051G>A (p.Val351Ile) c.1126G>A (p.Val376Ile) c.898G>A (p.Val300Ile) | |
| 7 | g.107917421G>C | CA368858516 | DLD | c.1195G>C (p.Val399Leu) c.*869G>C (n.*869G>C) c.1051G>C (p.Val351Leu) c.1126G>C (p.Val376Leu) c.898G>C (p.Val300Leu) | |
| 7 | g.107917421G>T | CA368858518 | DLD | c.1195G>T (p.Val399Phe) c.*869G>T (n.*869G>T) c.1051G>T (p.Val351Phe) c.1126G>T (p.Val376Phe) c.898G>T (p.Val300Phe) | |
| 7 | g.107917422T>A | CA368858519 | DLD | c.1196T>A (p.Val399Asp) c.*870T>A (n.*870T>A) c.1052T>A (p.Val351Asp) c.1127T>A (p.Val376Asp) c.899T>A (p.Val300Asp) | |
| 7 | g.107917422T>C | CA368858521 | DLD | c.1196T>C (p.Val399Ala) c.*870T>C (n.*870T>C) c.1052T>C (p.Val351Ala) c.1127T>C (p.Val376Ala) c.899T>C (p.Val300Ala) | |
| 7 | g.107917422T>G | CA368858522 | DLD | c.1196T>G (p.Val399Gly) c.*870T>G (n.*870T>G) c.1052T>G (p.Val351Gly) c.1127T>G (p.Val376Gly) c.899T>G (p.Val300Gly) | |
| 7 | g.107917423T>A | CA457109506 | DLD | c.1197T>A (p.Val399=) c.*871T>A (n.*871T>A) c.1053T>A (p.Val351=) c.1128T>A (p.Val376=) c.900T>A (p.Val300=) | |
| 7 | g.107917423T>C | CA457109507 | DLD | c.1197T>C (p.Val399=) c.*871T>C (n.*871T>C) c.1053T>C (p.Val351=) c.1128T>C (p.Val376=) c.900T>C (p.Val300=) | |
| 7 | g.107917423T>G | CA457109508 | DLD | c.1197T>G (p.Val399=) c.*871T>G (n.*871T>G) c.1053T>G (p.Val351=) c.1128T>G (p.Val376=) c.900T>G (p.Val300=) | |
| 7 | g.107917424G>A | CA368858524 | DLD | c.1198G>A (p.Ala400Thr) c.*872G>A (n.*872G>A) c.1054G>A (p.Ala352Thr) c.1129G>A (p.Ala377Thr) c.901G>A (p.Ala301Thr) | |
| 7 | g.107917424G>C | CA368858525 | DLD | c.1198G>C (p.Ala400Pro) c.*872G>C (n.*872G>C) c.1054G>C (p.Ala352Pro) c.1129G>C (p.Ala377Pro) c.901G>C (p.Ala301Pro) | |
| 7 | g.107917424G>T | CA368858526 | DLD | c.1198G>T (p.Ala400Ser) c.*872G>T (n.*872G>T) c.1054G>T (p.Ala352Ser) c.1129G>T (p.Ala377Ser) c.901G>T (p.Ala301Ser) | gnomAD v4 |
| 7 | g.107917425C>A | CA368858529 | DLD | c.1199C>A (p.Ala400Asp) c.*873C>A (n.*873C>A) c.1055C>A (p.Ala352Asp) c.1130C>A (p.Ala377Asp) c.902C>A (p.Ala301Asp) | |
| 7 | g.107917425C= | CA1732860070 | DLD | c.1199C= (p.Ala400=) c.*873C= (n.*873C=) c.1055C= (p.Ala352=) c.1130C= (p.Ala377=) c.902C= (p.Ala301=) | |
| 7 | g.107917425C>G | CA164258449 | DLD | c.1199C>G (p.Ala400Gly) c.*873C>G (n.*873C>G) c.1055C>G (p.Ala352Gly) c.1130C>G (p.Ala377Gly) c.902C>G (p.Ala301Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.107917425C>T | CA368858527 | DLD | c.1199C>T (p.Ala400Val) c.*873C>T (n.*873C>T) c.1055C>T (p.Ala352Val) c.1130C>T (p.Ala377Val) c.902C>T (p.Ala301Val) | |
| 7 | g.107917426T>A | CA457109509 | DLD | c.1200T>A (p.Ala400=) c.*874T>A (n.*874T>A) c.1056T>A (p.Ala352=) c.1131T>A (p.Ala377=) c.903T>A (p.Ala301=) | |
| 7 | g.107917426T>C | CA457109510 | DLD | c.1200T>C (p.Ala400=) c.*874T>C (n.*874T>C) c.1056T>C (p.Ala352=) c.1131T>C (p.Ala377=) c.903T>C (p.Ala301=) | |
| 7 | g.107917426T>G | CA457109511 | DLD | c.1200T>G (p.Ala400=) c.*874T>G (n.*874T>G) c.1056T>G (p.Ala352=) c.1131T>G (p.Ala377=) c.903T>G (p.Ala301=) | |
| 7 | g.107917427T>A | CA368858531 | DLD | c.1201T>A (p.Trp401Arg) c.*875T>A (n.*875T>A) c.1057T>A (p.Trp353Arg) c.1132T>A (p.Trp378Arg) c.904T>A (p.Trp302Arg) | |
| 7 | g.107917427T>C | CA164258452 | DLD | c.1201T>C (p.Trp401Arg) c.*875T>C (n.*875T>C) c.1057T>C (p.Trp353Arg) c.1132T>C (p.Trp378Arg) c.904T>C (p.Trp302Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107917427T>G | CA368858532 | DLD | c.1201T>G (p.Trp401Gly) c.*875T>G (n.*875T>G) c.1057T>G (p.Trp353Gly) c.1132T>G (p.Trp378Gly) c.904T>G (p.Trp302Gly) | |
| 7 | g.107917427T= | CA1732860071 | DLD | c.1201T= (p.Trp401=) c.*875T= (n.*875T=) c.1057T= (p.Trp353=) c.1132T= (p.Trp378=) c.904T= (p.Trp302=) | |
| 7 | g.107917428G>A | CA368858534 | DLD | c.1202G>A (p.Trp401Ter) c.*876G>A (n.*876G>A) c.1058G>A (p.Trp353Ter) c.1133G>A (p.Trp378Ter) c.905G>A (p.Trp302Ter) | |
| 7 | g.107917428G>C | CA368858536 | DLD | c.1202G>C (p.Trp401Ser) c.*876G>C (n.*876G>C) c.1058G>C (p.Trp353Ser) c.1133G>C (p.Trp378Ser) c.905G>C (p.Trp302Ser) | |
| 7 | g.107917428G>T | CA368858537 | DLD | c.1202G>T (p.Trp401Leu) c.*876G>T (n.*876G>T) c.1058G>T (p.Trp353Leu) c.1133G>T (p.Trp378Leu) c.905G>T (p.Trp302Leu) | |
| 7 | g.107917429G>A | CA368858538 | DLD | c.1203G>A (p.Trp401Ter) c.*877G>A (n.*877G>A) c.1059G>A (p.Trp353Ter) c.1134G>A (p.Trp378Ter) c.906G>A (p.Trp302Ter) | gnomAD v4 |
| 7 | g.107917429G>C | CA368858540 | DLD | c.1203G>C (p.Trp401Cys) c.*877G>C (n.*877G>C) c.1059G>C (p.Trp353Cys) c.1134G>C (p.Trp378Cys) c.906G>C (p.Trp302Cys) | dbSNP |
| 7 | g.107917429G= | CA1732860072 | DLD | c.1203G= (p.Trp401=) c.*877G= (n.*877G=) c.1059G= (p.Trp353=) c.1134G= (p.Trp378=) c.906G= (p.Trp302=) | |
| 7 | g.107917429G>T | CA368858541 | DLD | c.1203G>T (p.Trp401Cys) c.*877G>T (n.*877G>T) c.1059G>T (p.Trp353Cys) c.1134G>T (p.Trp378Cys) c.906G>T (p.Trp302Cys) | |
| 7 | g.107917430G>A | CA368858543 | DLD | c.1204G>A (p.Val402Ile) c.*878G>A (n.*878G>A) c.1060G>A (p.Val354Ile) c.1135G>A (p.Val379Ile) c.907G>A (p.Val303Ile) | |
| 7 | g.107917430G>C | CA368858545 | DLD | c.1204G>C (p.Val402Leu) c.*878G>C (n.*878G>C) c.1060G>C (p.Val354Leu) c.1135G>C (p.Val379Leu) c.907G>C (p.Val303Leu) | |
| 7 | g.107917430G>T | CA368858546 | DLD | c.1204G>T (p.Val402Phe) c.*878G>T (n.*878G>T) c.1060G>T (p.Val354Phe) c.1135G>T (p.Val379Phe) c.907G>T (p.Val303Phe) | |
| 7 | g.107917431T>A | CA368858548 | DLD | c.1205T>A (p.Val402Asp) c.*879T>A (n.*879T>A) c.1061T>A (p.Val354Asp) c.1136T>A (p.Val379Asp) c.908T>A (p.Val303Asp) | |
| 7 | g.107917431T>C | CA368858551 | DLD | c.1205T>C (p.Val402Ala) c.*879T>C (n.*879T>C) c.1061T>C (p.Val354Ala) c.1136T>C (p.Val379Ala) c.908T>C (p.Val303Ala) | gnomAD v4 |
| 7 | g.107917431T>G | CA368858550 | DLD | c.1205T>G (p.Val402Gly) c.*879T>G (n.*879T>G) c.1061T>G (p.Val354Gly) c.1136T>G (p.Val379Gly) c.908T>G (p.Val303Gly) | |
| 7 | g.107917432T>A | CA457109512 | DLD | c.1206T>A (p.Val402=) c.*880T>A (n.*880T>A) c.1062T>A (p.Val354=) c.1137T>A (p.Val379=) c.909T>A (p.Val303=) | |
| 7 | g.107917432T>C | CA457109513 | DLD | c.1206T>C (p.Val402=) c.*880T>C (n.*880T>C) c.1062T>C (p.Val354=) c.1137T>C (p.Val379=) c.909T>C (p.Val303=) | |
| 7 | g.107917432T>G | CA457109514 | DLD | c.1206T>G (p.Val402=) c.*880T>G (n.*880T>G) c.1062T>G (p.Val354=) c.1137T>G (p.Val379=) c.909T>G (p.Val303=) | |
| 7 | g.107917433G>A | CA368858553 | DLD | c.1207G>A (p.Gly403Ser) c.*881G>A (n.*881G>A) c.1063G>A (p.Gly355Ser) c.1138G>A (p.Gly380Ser) c.910G>A (p.Gly304Ser) | |
| 7 | g.107917433G>C | CA368858556 | DLD | c.1207G>C (p.Gly403Arg) c.*881G>C (n.*881G>C) c.1063G>C (p.Gly355Arg) c.1138G>C (p.Gly380Arg) c.910G>C (p.Gly304Arg) | |
| 7 | g.107917433G>T | CA368858554 | DLD | c.1207G>T (p.Gly403Cys) c.*881G>T (n.*881G>T) c.1063G>T (p.Gly355Cys) c.1138G>T (p.Gly380Cys) c.910G>T (p.Gly304Cys) | |
| 7 | g.107917434G>A | CA368858557 | DLD | c.1208G>A (p.Gly403Asp) c.*882G>A (n.*882G>A) c.1064G>A (p.Gly355Asp) c.1139G>A (p.Gly380Asp) c.911G>A (p.Gly304Asp) | |
| 7 | g.107917434G>C | CA4434641 | DLD | c.1208G>C (p.Gly403Ala) c.*882G>C (n.*882G>C) c.1064G>C (p.Gly355Ala) c.1139G>C (p.Gly380Ala) c.911G>C (p.Gly304Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.107917434G= | CA1732860073 | DLD | c.1208G= (p.Gly403=) c.*882G= (n.*882G=) c.1064G= (p.Gly355=) c.1139G= (p.Gly380=) c.911G= (p.Gly304=) | |
| 7 | g.107917434G>T | CA368858559 | DLD | c.1208G>T (p.Gly403Val) c.*882G>T (n.*882G>T) c.1064G>T (p.Gly355Val) c.1139G>T (p.Gly380Val) c.911G>T (p.Gly304Val) | |
| 7 | g.107917435C>A | CA457109517 | DLD | c.1209C>A (p.Gly403=) c.*883C>A (n.*883C>A) c.1065C>A (p.Gly355=) c.1140C>A (p.Gly380=) c.912C>A (p.Gly304=) | |
| 7 | g.107917435C>G | CA457109516 | DLD | c.1209C>G (p.Gly403=) c.*883C>G (n.*883C>G) c.1065C>G (p.Gly355=) c.1140C>G (p.Gly380=) c.912C>G (p.Gly304=) | |
| 7 | g.107917435C>T | CA457109515 | DLD | c.1209C>T (p.Gly403=) c.*883C>T (n.*883C>T) c.1065C>T (p.Gly355=) c.1140C>T (p.Gly380=) c.912C>T (p.Gly304=) | gnomAD v4 |
| 7 | g.107917436A>C | CA368858562 | DLD | c.1210A>C (p.Lys404Gln) c.*884A>C (n.*884A>C) c.1066A>C (p.Lys356Gln) c.1141A>C (p.Lys381Gln) c.913A>C (p.Lys305Gln) | |
| 7 | g.107917436A>G | CA368858563 | DLD | c.1210A>G (p.Lys404Glu) c.*884A>G (n.*884A>G) c.1066A>G (p.Lys356Glu) c.1141A>G (p.Lys381Glu) c.913A>G (p.Lys305Glu) | |
| 7 | g.107917436A>T | CA368858564 | DLD | c.1210A>T (p.Lys404Ter) c.*884A>T (n.*884A>T) c.1066A>T (p.Lys356Ter) c.1141A>T (p.Lys381Ter) c.913A>T (p.Lys305Ter) | |
| 7 | g.107917437A= | CA1732860074 | DLD | c.1211A= (p.Lys404=) c.*885A= (n.*885A=) c.1067A= (p.Lys356=) c.1142A= (p.Lys381=) c.914A= (p.Lys305=) | |
| 7 | g.107917437A>C | CA368858567 | DLD | c.1211A>C (p.Lys404Thr) c.*885A>C (n.*885A>C) c.1067A>C (p.Lys356Thr) c.1142A>C (p.Lys381Thr) c.914A>C (p.Lys305Thr) | |
| 7 | g.107917437A>G | CA368858568 | DLD | c.1211A>G (p.Lys404Arg) c.*885A>G (n.*885A>G) c.1067A>G (p.Lys356Arg) c.1142A>G (p.Lys381Arg) c.914A>G (p.Lys305Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.107917437A>T | CA368858570 | DLD | c.1211A>T (p.Lys404Ile) c.*885A>T (n.*885A>T) c.1067A>T (p.Lys356Ile) c.1142A>T (p.Lys381Ile) c.914A>T (p.Lys305Ile) | |
| 7 | g.107917438A>C | CA368858571 | DLD | c.1212A>C (p.Lys404Asn) c.*886A>C (n.*886A>C) c.1068A>C (p.Lys356Asn) c.1143A>C (p.Lys381Asn) c.915A>C (p.Lys305Asn) | ClinVar |
| 7 | g.107917438A>G | CA457109518 | DLD | c.1212A>G (p.Lys404=) c.*886A>G (n.*886A>G) c.1068A>G (p.Lys356=) c.1143A>G (p.Lys381=) c.915A>G (p.Lys305=) | |
| 7 | g.107917438A>T | CA368858573 | DLD | c.1212A>T (p.Lys404Asn) c.*886A>T (n.*886A>T) c.1068A>T (p.Lys356Asn) c.1143A>T (p.Lys381Asn) c.915A>T (p.Lys305Asn) | |
| 7 | g.107917439T>A | CA368858575 | DLD | c.1213T>A (p.Ser405Thr) c.*887T>A (n.*887T>A) c.1069T>A (p.Ser357Thr) c.1144T>A (p.Ser382Thr) c.916T>A (p.Ser306Thr) | |
| 7 | g.107917439T>C | CA4434642 | DLD | c.1213T>C (p.Ser405Pro) c.*887T>C (n.*887T>C) c.1069T>C (p.Ser357Pro) c.1144T>C (p.Ser382Pro) c.916T>C (p.Ser306Pro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107917439T>G | CA368858577 | DLD | c.1213T>G (p.Ser405Ala) c.*887T>G (n.*887T>G) c.1069T>G (p.Ser357Ala) c.1144T>G (p.Ser382Ala) c.916T>G (p.Ser306Ala) | |
| 7 | g.107917439T= | CA1732860075 | DLD | c.1213T= (p.Ser405=) c.*887T= (n.*887T=) c.1069T= (p.Ser357=) c.1144T= (p.Ser382=) c.916T= (p.Ser306=) | |
| 7 | g.107917440C>A | CA368858584 | DLD | c.1214C>A (p.Ser405Ter) c.*888C>A (n.*888C>A) c.1070C>A (p.Ser357Ter) c.1145C>A (p.Ser382Ter) c.917C>A (p.Ser306Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107917440C= | CA1732860076 | DLD | c.1214C= (p.Ser405=) c.*888C= (n.*888C=) c.1070C= (p.Ser357=) c.1145C= (p.Ser382=) c.917C= (p.Ser306=) | |
| 7 | g.107917440C>G | CA368858582 | DLD | c.1214C>G (p.Ser405Ter) c.*888C>G (n.*888C>G) c.1070C>G (p.Ser357Ter) c.1145C>G (p.Ser382Ter) c.917C>G (p.Ser306Ter) | ClinVar |
| 7 | g.107917440C>T | CA368858581 | DLD | c.1214C>T (p.Ser405Leu) c.*888C>T (n.*888C>T) c.1070C>T (p.Ser357Leu) c.1145C>T (p.Ser382Leu) c.917C>T (p.Ser306Leu) | |
| 7 | g.107917441A= | CA1732860077 | DLD | c.1215A= (p.Ser405=) c.*889A= (n.*889A=) c.1071A= (p.Ser357=) c.1146A= (p.Ser382=) c.918A= (p.Ser306=) | |
| 7 | g.107917441A>C | CA457109519 | DLD | c.1215A>C (p.Ser405=) c.*889A>C (n.*889A>C) c.1071A>C (p.Ser357=) c.1146A>C (p.Ser382=) c.918A>C (p.Ser306=) | |
| 7 | g.107917441A>G | CA457109521 | DLD | c.1215A>G (p.Ser405=) c.*889A>G (n.*889A>G) c.1071A>G (p.Ser357=) c.1146A>G (p.Ser382=) c.918A>G (p.Ser306=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.107917441A>T | CA457109520 | DLD | c.1215A>T (p.Ser405=) c.*889A>T (n.*889A>T) c.1071A>T (p.Ser357=) c.1146A>T (p.Ser382=) c.918A>T (p.Ser306=) | |
| 7 | g.107917442G>A | CA368858586 | DLD | c.1216G>A (p.Glu406Lys) c.*890G>A (n.*890G>A) c.1072G>A (p.Glu358Lys) c.1147G>A (p.Glu383Lys) c.919G>A (p.Glu307Lys) | |
| 7 | g.107917442G>C | CA368858588 | DLD | c.1216G>C (p.Glu406Gln) c.*890G>C (n.*890G>C) c.1072G>C (p.Glu358Gln) c.1147G>C (p.Glu383Gln) c.919G>C (p.Glu307Gln) | |
| 7 | g.107917442G>T | CA368858589 | DLD | c.1216G>T (p.Glu406Ter) c.*890G>T (n.*890G>T) c.1072G>T (p.Glu358Ter) c.1147G>T (p.Glu383Ter) c.919G>T (p.Glu307Ter) | |
| 7 | g.107917443A>C | CA368858590 | DLD | c.1217A>C (p.Glu406Ala) c.*891A>C (n.*891A>C) c.1073A>C (p.Glu358Ala) c.1148A>C (p.Glu383Ala) c.920A>C (p.Glu307Ala) | |
| 7 | g.107917443A>G | CA368858592 | DLD | c.1217A>G (p.Glu406Gly) c.*891A>G (n.*891A>G) c.1073A>G (p.Glu358Gly) c.1148A>G (p.Glu383Gly) c.920A>G (p.Glu307Gly) | |
| 7 | g.107917443A>T | CA368858594 | DLD | c.1217A>T (p.Glu406Val) c.*891A>T (n.*891A>T) c.1073A>T (p.Glu358Val) c.1148A>T (p.Glu383Val) c.920A>T (p.Glu307Val) | |
| 7 | g.107917444A= | CA1732860078 | DLD | c.1218A= (p.Glu406=) c.*892A= (n.*892A=) c.1074A= (p.Glu358=) c.1149A= (p.Glu383=) c.921A= (p.Glu307=) | |
| 7 | g.107917444A>C | CA368858595 | DLD | c.1218A>C (p.Glu406Asp) c.*892A>C (n.*892A>C) c.1074A>C (p.Glu358Asp) c.1149A>C (p.Glu383Asp) c.921A>C (p.Glu307Asp) | ClinVar dbSNP |
| 7 | g.107917444A>G | CA457109522 | DLD | c.1218A>G (p.Glu406=) c.*892A>G (n.*892A>G) c.1074A>G (p.Glu358=) c.1149A>G (p.Glu383=) c.921A>G (p.Glu307=) | gnomAD v4 |
| 7 | g.107917444A>T | CA368858597 | DLD | c.1218A>T (p.Glu406Asp) c.*892A>T (n.*892A>T) c.1074A>T (p.Glu358Asp) c.1149A>T (p.Glu383Asp) c.921A>T (p.Glu307Asp) | |
| 7 | g.107917445G>A | CA368858599 | DLD | c.1219G>A (p.Glu407Lys) c.*893G>A (n.*893G>A) c.1075G>A (p.Glu359Lys) c.1150G>A (p.Glu384Lys) c.922G>A (p.Glu308Lys) | |
| 7 | g.107917445G>C | CA368858600 | DLD | c.1219G>C (p.Glu407Gln) c.*893G>C (n.*893G>C) c.1075G>C (p.Glu359Gln) c.1150G>C (p.Glu384Gln) c.922G>C (p.Glu308Gln) | |
| 7 | g.107917445G>T | CA368858601 | DLD | c.1219G>T (p.Glu407Ter) c.*893G>T (n.*893G>T) c.1075G>T (p.Glu359Ter) c.1150G>T (p.Glu384Ter) c.922G>T (p.Glu308Ter) | ClinVar |
| 7 | g.107917446A= | CA1732860079 | DLD | c.1220A= (p.Glu407=) c.*894A= (n.*894A=) c.1076A= (p.Glu359=) c.1151A= (p.Glu384=) c.923A= (p.Glu308=) | |
| 7 | g.107917446A>C | CA368858606 | DLD | c.1220A>C (p.Glu407Ala) c.*894A>C (n.*894A>C) c.1076A>C (p.Glu359Ala) c.1151A>C (p.Glu384Ala) c.923A>C (p.Glu308Ala) | |
| 7 | g.107917446A>G | CA368858605 | DLD | c.1220A>G (p.Glu407Gly) c.*894A>G (n.*894A>G) c.1076A>G (p.Glu359Gly) c.1151A>G (p.Glu384Gly) c.923A>G (p.Glu308Gly) | gnomAD v4 |
| 7 | g.107917446A>T | CA368858603 | DLD | c.1220A>T (p.Glu407Val) c.*894A>T (n.*894A>T) c.1076A>T (p.Glu359Val) c.1151A>T (p.Glu384Val) c.923A>T (p.Glu308Val) | |
| 7 | g.107917446_107917447insAACACAAT | CA1732860081 | DLD | c.1220_1221insAACACAAT (p.Gln408ThrfsTer5) c.*894_*895insAACACAAT (n.*894_*895insAACACAAT) c.1076_1077insAACACAAT (p.Gln360ThrfsTer5) c.1151_1152insAACACAAT (p.Gln385ThrfsTer5) c.923_924insAACACAAT (p.Gln309ThrfsTer5) | dbSNP |
| 7 | g.107917447G>A | CA4434643 | DLD | c.1221G>A (p.Glu407=) c.*895G>A (n.*895G>A) c.1077G>A (p.Glu359=) c.1152G>A (p.Glu384=) c.924G>A (p.Glu308=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.107917447G>C | CA368858609 | DLD | c.1221G>C (p.Glu407Asp) c.*895G>C (n.*895G>C) c.1077G>C (p.Glu359Asp) c.1152G>C (p.Glu384Asp) c.924G>C (p.Glu308Asp) | |
| 7 | g.107917447G= | CA1732860080 | DLD | c.1221G= (p.Glu407=) c.*895G= (n.*895G=) c.1077G= (p.Glu359=) c.1152G= (p.Glu384=) c.924G= (p.Glu308=) | |
| 7 | g.107917447G>T | CA368858611 | DLD | c.1221G>T (p.Glu407Asp) c.*895G>T (n.*895G>T) c.1077G>T (p.Glu359Asp) c.1152G>T (p.Glu384Asp) c.924G>T (p.Glu308Asp) | |
| 7 | g.107917448C>A | CA368858612 | DLD | c.1222C>A (p.Gln408Lys) c.*896C>A (n.*896C>A) c.1078C>A (p.Gln360Lys) c.1153C>A (p.Gln385Lys) c.925C>A (p.Gln309Lys) | dbSNP |
| 7 | g.107917448C= | CA1732860082 | DLD | c.1222C= (p.Gln408=) c.*896C= (n.*896C=) c.1078C= (p.Gln360=) c.1153C= (p.Gln385=) c.925C= (p.Gln309=) | |
| 7 | g.107917448C>G | CA368858613 | DLD | c.1222C>G (p.Gln408Glu) c.*896C>G (n.*896C>G) c.1078C>G (p.Gln360Glu) c.1153C>G (p.Gln385Glu) c.925C>G (p.Gln309Glu) | |
| 7 | g.107917448C>T | CA368858614 | DLD | c.1222C>T (p.Gln408Ter) c.*896C>T (n.*896C>T) c.1078C>T (p.Gln360Ter) c.1153C>T (p.Gln385Ter) c.925C>T (p.Gln309Ter) | |
| 7 | g.107917449A>C | CA368858615 | DLD | c.1223A>C (p.Gln408Pro) c.*897A>C (n.*897A>C) c.1079A>C (p.Gln360Pro) c.1154A>C (p.Gln385Pro) c.926A>C (p.Gln309Pro) | |
| 7 | g.107917449A>G | CA368858616 | DLD | c.1223A>G (p.Gln408Arg) c.*897A>G (n.*897A>G) c.1079A>G (p.Gln360Arg) c.1154A>G (p.Gln385Arg) c.926A>G (p.Gln309Arg) | gnomAD v4 |
| 7 | g.107917449A>T | CA368858617 | DLD | c.1223A>T (p.Gln408Leu) c.*897A>T (n.*897A>T) c.1079A>T (p.Gln360Leu) c.1154A>T (p.Gln385Leu) c.926A>T (p.Gln309Leu) | |
| 7 | g.107917450G>A | CA457109523 | DLD | c.1224G>A (p.Gln408=) c.*898G>A (n.*898G>A) c.1080G>A (p.Gln360=) c.1155G>A (p.Gln385=) c.927G>A (p.Gln309=) | |
| 7 | g.107917450G>C | CA368858618 | DLD | c.1224G>C (p.Gln408His) c.*898G>C (n.*898G>C) c.1080G>C (p.Gln360His) c.1155G>C (p.Gln385His) c.927G>C (p.Gln309His) | |
| 7 | g.107917450G= | CA1732860083 | DLD | c.1224G= (p.Gln408=) c.*898G= (n.*898G=) c.1080G= (p.Gln360=) c.1155G= (p.Gln385=) c.927G= (p.Gln309=) | |
| 7 | g.107917450G>T | CA368858620 | DLD | c.1224G>T (p.Gln408His) c.*898G>T (n.*898G>T) c.1080G>T (p.Gln360His) c.1155G>T (p.Gln385His) c.927G>T (p.Gln309His) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.107917451T>A | CA368858621 | DLD | c.1225T>A (p.Leu409Met) c.*899T>A (n.*899T>A) c.1081T>A (p.Leu361Met) c.1156T>A (p.Leu386Met) c.928T>A (p.Leu310Met) | |
| 7 | g.107917451T>C | CA457109524 | DLD | c.1225T>C (p.Leu409=) c.*899T>C (n.*899T>C) c.1081T>C (p.Leu361=) c.1156T>C (p.Leu386=) c.928T>C (p.Leu310=) | |
| 7 | g.107917451T>G | CA368858623 | DLD | c.1225T>G (p.Leu409Val) c.*899T>G (n.*899T>G) c.1081T>G (p.Leu361Val) c.1156T>G (p.Leu386Val) c.928T>G (p.Leu310Val) |