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.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.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) | |
| 7 | g.107917452T>A | CA368858624 | DLD | c.1226T>A (p.Leu409Ter) c.*900T>A (n.*900T>A) c.1082T>A (p.Leu361Ter) c.1157T>A (p.Leu386Ter) c.929T>A (p.Leu310Ter) | |
| 7 | g.107917452T>C | CA368858628 | DLD | c.1226T>C (p.Leu409Ser) c.*900T>C (n.*900T>C) c.1082T>C (p.Leu361Ser) c.1157T>C (p.Leu386Ser) c.929T>C (p.Leu310Ser) | gnomAD v4 |
| 7 | g.107917452T>G | CA368858626 | DLD | c.1226T>G (p.Leu409Trp) c.*900T>G (n.*900T>G) c.1082T>G (p.Leu361Trp) c.1157T>G (p.Leu386Trp) c.929T>G (p.Leu310Trp) | |
| 7 | g.107917453G>A | CA457109525 | DLD | c.1227G>A (p.Leu409=) c.*901G>A (n.*901G>A) c.1083G>A (p.Leu361=) c.1158G>A (p.Leu386=) c.930G>A (p.Leu310=) | |
| 7 | g.107917453G>C | CA368858629 | DLD | c.1227G>C (p.Leu409Phe) c.*901G>C (n.*901G>C) c.1083G>C (p.Leu361Phe) c.1158G>C (p.Leu386Phe) c.930G>C (p.Leu310Phe) | |
| 7 | g.107917453G>T | CA368858631 | DLD | c.1227G>T (p.Leu409Phe) c.*901G>T (n.*901G>T) c.1083G>T (p.Leu361Phe) c.1158G>T (p.Leu386Phe) c.930G>T (p.Leu310Phe) | |
| 7 | g.107917454A= | CA1732860084 | DLD | c.1228A= (p.Lys410=) c.*902A= (n.*902A=) c.1084A= (p.Lys362=) c.1159A= (p.Lys387=) c.931A= (p.Lys311=) | |
| 7 | g.107917454A>C | CA10622967 | DLD | c.1228A>C (p.Lys410Gln) c.*902A>C (n.*902A>C) c.1084A>C (p.Lys362Gln) c.1159A>C (p.Lys387Gln) c.931A>C (p.Lys311Gln) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107917454A>G | CA368858633 | DLD | c.1228A>G (p.Lys410Glu) c.*902A>G (n.*902A>G) c.1084A>G (p.Lys362Glu) c.1159A>G (p.Lys387Glu) c.931A>G (p.Lys311Glu) | |
| 7 | g.107917454A>T | CA368858635 | DLD | c.1228A>T (p.Lys410Ter) c.*902A>T (n.*902A>T) c.1084A>T (p.Lys362Ter) c.1159A>T (p.Lys387Ter) c.931A>T (p.Lys311Ter) | |
| 7 | g.107917455A= | CA1732860085 | DLD | c.1229A= (p.Lys410=) c.*903A= (n.*903A=) c.1085A= (p.Lys362=) c.1160A= (p.Lys387=) c.932A= (p.Lys311=) | |
| 7 | g.107917455A>C | CA4434644 | DLD | c.1229A>C (p.Lys410Thr) c.*903A>C (n.*903A>C) c.1085A>C (p.Lys362Thr) c.1160A>C (p.Lys387Thr) c.932A>C (p.Lys311Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.107917455A>G | CA368858636 | DLD | c.1229A>G (p.Lys410Arg) c.*903A>G (n.*903A>G) c.1085A>G (p.Lys362Arg) c.1160A>G (p.Lys387Arg) c.932A>G (p.Lys311Arg) | |
| 7 | g.107917455A>T | CA368858638 | DLD | c.1229A>T (p.Lys410Ile) c.*903A>T (n.*903A>T) c.1085A>T (p.Lys362Ile) c.1160A>T (p.Lys387Ile) c.932A>T (p.Lys311Ile) | |
| 7 | g.107917459_107917461del | CA2684459016 | DLD | c.1233_1235del (p.Glu412del) c.*907_*909del (n.*907_*909del) c.1089_1091del (p.Glu364del) c.1164_1166del (p.Glu389del) c.936_938del (p.Glu313del) | gnomAD v4 |
| 7 | g.107917456A>C | CA368858639 | DLD | c.1230A>C (p.Lys410Asn) c.*904A>C (n.*904A>C) c.1086A>C (p.Lys362Asn) c.1161A>C (p.Lys387Asn) c.933A>C (p.Lys311Asn) | |
| 7 | g.107917456A>G | CA457109526 | DLD | c.1230A>G (p.Lys410=) c.*904A>G (n.*904A>G) c.1086A>G (p.Lys362=) c.1161A>G (p.Lys387=) c.933A>G (p.Lys311=) | |
| 7 | g.107917456A>T | CA368858640 | DLD | c.1230A>T (p.Lys410Asn) c.*904A>T (n.*904A>T) c.1086A>T (p.Lys362Asn) c.1161A>T (p.Lys387Asn) c.933A>T (p.Lys311Asn) | |
| 7 | g.107917457G>A | CA368858645 | DLD | c.1231G>A (p.Glu411Lys) c.*905G>A (n.*905G>A) c.1087G>A (p.Glu363Lys) c.1162G>A (p.Glu388Lys) c.934G>A (p.Glu312Lys) | |
| 7 | g.107917457G>C | CA368858643 | DLD | c.1231G>C (p.Glu411Gln) c.*905G>C (n.*905G>C) c.1087G>C (p.Glu363Gln) c.1162G>C (p.Glu388Gln) c.934G>C (p.Glu312Gln) | |
| 7 | g.107917457G>T | CA368858642 | DLD | c.1231G>T (p.Glu411Ter) c.*905G>T (n.*905G>T) c.1087G>T (p.Glu363Ter) c.1162G>T (p.Glu388Ter) c.934G>T (p.Glu312Ter) | |
| 7 | g.107917458A>C | CA368858646 | DLD | c.1232A>C (p.Glu411Ala) c.*906A>C (n.*906A>C) c.1088A>C (p.Glu363Ala) c.1163A>C (p.Glu388Ala) c.935A>C (p.Glu312Ala) | |
| 7 | g.107917458A>G | CA368858649 | DLD | c.1232A>G (p.Glu411Gly) c.*906A>G (n.*906A>G) c.1088A>G (p.Glu363Gly) c.1163A>G (p.Glu388Gly) c.935A>G (p.Glu312Gly) | |
| 7 | g.107917458A>T | CA368858648 | DLD | c.1232A>T (p.Glu411Val) c.*906A>T (n.*906A>T) c.1088A>T (p.Glu363Val) c.1163A>T (p.Glu388Val) c.935A>T (p.Glu312Val) | |
| 7 | g.107917458_107917459del | CA2578990199 | DLD | c.1232_1233del (p.Glu411GlyfsTer4) c.*906_*907del (n.*906_*907del) c.1088_1089del (p.Glu363GlyfsTer4) c.1163_1164del (p.Glu388GlyfsTer4) c.935_936del (p.Glu312GlyfsTer4) | ClinVar |
| 7 | g.107917459dup | CA2695199609 | DLD | c.1233dup (p.Glu412ArgfsTer4) c.*907dup (n.*907dup) c.1089dup (p.Glu364ArgfsTer4) c.1164dup (p.Glu389ArgfsTer4) c.936dup (p.Glu313ArgfsTer4) | ClinVar |
| 7 | g.107917459A>C | CA368858650 | DLD | c.1233A>C (p.Glu411Asp) c.*907A>C (n.*907A>C) c.1089A>C (p.Glu363Asp) c.1164A>C (p.Glu388Asp) c.936A>C (p.Glu312Asp) | |
| 7 | g.107917459A>G | CA457109527 | DLD | c.1233A>G (p.Glu411=) c.*907A>G (n.*907A>G) c.1089A>G (p.Glu363=) c.1164A>G (p.Glu388=) c.936A>G (p.Glu312=) | ClinVar |
| 7 | g.107917459A>T | CA368858652 | DLD | c.1233A>T (p.Glu411Asp) c.*907A>T (n.*907A>T) c.1089A>T (p.Glu363Asp) c.1164A>T (p.Glu388Asp) c.936A>T (p.Glu312Asp) | |
| 7 | g.107917460G>A | CA368858653 | DLD | c.1234G>A (p.Glu412Lys) c.*908G>A (n.*908G>A) c.1090G>A (p.Glu364Lys) c.1165G>A (p.Glu389Lys) c.937G>A (p.Glu313Lys) | |
| 7 | g.107917460G>C | CA368858655 | DLD | c.1234G>C (p.Glu412Gln) c.*908G>C (n.*908G>C) c.1090G>C (p.Glu364Gln) c.1165G>C (p.Glu389Gln) c.937G>C (p.Glu313Gln) | |
| 7 | g.107917460G>T | CA368858657 | DLD | c.1234G>T (p.Glu412Ter) c.*908G>T (n.*908G>T) c.1090G>T (p.Glu364Ter) c.1165G>T (p.Glu389Ter) c.937G>T (p.Glu313Ter) | |
| 7 | g.107917461A>C | CA368858658 | DLD | c.1235A>C (p.Glu412Ala) c.*909A>C (n.*909A>C) c.1091A>C (p.Glu364Ala) c.1166A>C (p.Glu389Ala) c.938A>C (p.Glu313Ala) | |
| 7 | g.107917461A>G | CA368858659 | DLD | c.1235A>G (p.Glu412Gly) c.*909A>G (n.*909A>G) c.1091A>G (p.Glu364Gly) c.1166A>G (p.Glu389Gly) c.938A>G (p.Glu313Gly) | |
| 7 | g.107917461A>T | CA368858661 | DLD | c.1235A>T (p.Glu412Val) c.*909A>T (n.*909A>T) c.1091A>T (p.Glu364Val) c.1166A>T (p.Glu389Val) c.938A>T (p.Glu313Val) | |
| 7 | g.107917462G>A | CA4434645 | DLD | c.1236G>A (p.Glu412=) c.*910G>A (n.*910G>A) c.1092G>A (p.Glu364=) c.1167G>A (p.Glu389=) c.939G>A (p.Glu313=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107917462G>C | CA368858664 | DLD | c.1236G>C (p.Glu412Asp) c.*910G>C (n.*910G>C) c.1092G>C (p.Glu364Asp) c.1167G>C (p.Glu389Asp) c.939G>C (p.Glu313Asp) | gnomAD v4 |
| 7 | g.107917462G= | CA1732860086 | DLD | c.1236G= (p.Glu412=) c.*910G= (n.*910G=) c.1092G= (p.Glu364=) c.1167G= (p.Glu389=) c.939G= (p.Glu313=) | |
| 7 | g.107917462G>T | CA368858665 | DLD | c.1236G>T (p.Glu412Asp) c.*910G>T (n.*910G>T) c.1092G>T (p.Glu364Asp) c.1167G>T (p.Glu389Asp) c.939G>T (p.Glu313Asp) | |
| 7 | g.107917463G>A | CA368858670 | DLD | c.1236+1G>A (n.1236+1G>A) c.*910+1G>A (n.*910+1G>A) c.1092+1G>A (n.1092+1G>A) c.1167+1G>A (n.1167+1G>A) c.939+1G>A (n.939+1G>A) | ClinVar dbSNP gnomAD v4 |
| 7 | g.107917463G>C | CA368858668 | DLD | c.1236+1G>C (n.1236+1G>C) c.*910+1G>C (n.*910+1G>C) c.1092+1G>C (n.1092+1G>C) c.1167+1G>C (n.1167+1G>C) c.939+1G>C (n.939+1G>C) | gnomAD v4 |
| 7 | g.107917463G= | CA1732860087 | DLD | c.1236+1G= (n.1236+1G=) c.*910+1G= (n.*910+1G=) c.1092+1G= (n.1092+1G=) c.1167+1G= (n.1167+1G=) c.939+1G= (n.939+1G=) | |
| 7 | g.107917463G>T | CA368858667 | DLD | c.1236+1G>T (n.1236+1G>T) c.*910+1G>T (n.*910+1G>T) c.1092+1G>T (n.1092+1G>T) c.1167+1G>T (n.1167+1G>T) c.939+1G>T (n.939+1G>T) | ClinVar dbSNP |
| 7 | g.107917463_107917464insGTATTGAGTACAAAGTTGGGAAAT | CA2684459018 | DLD | c.1236+1_1236+2insGTATTGAGTACAAAGTTGGGAAAT (n.1236+1_1236+2insGTATTGAGTACAAAGTTGGGAAAT) c.*910+1_*910+2insGTATTGAGTACAAAGTTGGGAAAT (n.*910+1_*910+2insGTATTGAGTACAAAGTTGGGAAAT) c.1092+1_1092+2insGTATTGAGTACAAAGTTGGGAAAT (n.1092+1_1092+2insGTATTGAGTACAAAGTTGGGAAAT) c.1167+1_1167+2insGTATTGAGTACAAAGTTGGGAAAT (n.1167+1_1167+2insGTATTGAGTACAAAGTTGGGAAAT) c.939+1_939+2insGTATTGAGTACAAAGTTGGGAAAT (n.939+1_939+2insGTATTGAGTACAAAGTTGGGAAAT) | gnomAD v4 |
| 7 | g.107917464T>A | CA368858672 | DLD | c.1236+2T>A (n.1236+2T>A) c.*910+2T>A (n.*910+2T>A) c.1092+2T>A (n.1092+2T>A) c.1167+2T>A (n.1167+2T>A) c.939+2T>A (n.939+2T>A) | |
| 7 | g.107917464T>C | CA368858673 | DLD | c.1236+2T>C (n.1236+2T>C) c.*910+2T>C (n.*910+2T>C) c.1092+2T>C (n.1092+2T>C) c.1167+2T>C (n.1167+2T>C) c.939+2T>C (n.939+2T>C) | |
| 7 | g.107917464T>G | CA368858674 | DLD | c.1236+2T>G (n.1236+2T>G) c.*910+2T>G (n.*910+2T>G) c.1092+2T>G (n.1092+2T>G) c.1167+2T>G (n.1167+2T>G) c.939+2T>G (n.939+2T>G) | |
| 7 | g.107917465A= | CA1732860088 | DLD | c.1236+3A= (n.1236+3A=) c.*910+3A= (n.*910+3A=) c.1092+3A= (n.1092+3A=) c.1167+3A= (n.1167+3A=) c.939+3A= (n.939+3A=) | |
| 7 | g.107917465A>C | CA1732860089 | DLD | c.1236+3A>C (n.1236+3A>C) c.*910+3A>C (n.*910+3A>C) c.1092+3A>C (n.1092+3A>C) c.1167+3A>C (n.1167+3A>C) c.939+3A>C (n.939+3A>C) | dbSNP |
| 7 | g.107917465A>G | CA2684459019 | DLD | c.1236+3A>G (n.1236+3A>G) c.*910+3A>G (n.*910+3A>G) c.1092+3A>G (n.1092+3A>G) c.1167+3A>G (n.1167+3A>G) c.939+3A>G (n.939+3A>G) | gnomAD v4 |
| 7 | g.107917466A= | CA1732860090 | DLD | c.1236+4A= (n.1236+4A=) c.*910+4A= (n.*910+4A=) c.1092+4A= (n.1092+4A=) c.1167+4A= (n.1167+4A=) c.939+4A= (n.939+4A=) | |
| 7 | g.107917466A>G | CA2684459020 | DLD | c.1236+4A>G (n.1236+4A>G) c.*910+4A>G (n.*910+4A>G) c.1092+4A>G (n.1092+4A>G) c.1167+4A>G (n.1167+4A>G) c.939+4A>G (n.939+4A>G) | gnomAD v4 |
| 7 | g.107917466A>T | CA577199179 | DLD | c.1236+4A>T (n.1236+4A>T) c.*910+4A>T (n.*910+4A>T) c.1092+4A>T (n.1092+4A>T) c.1167+4A>T (n.1167+4A>T) c.939+4A>T (n.939+4A>T) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.107917467G>A | CA4434646 | DLD | c.1236+5G>A (n.1236+5G>A) c.*910+5G>A (n.*910+5G>A) c.1092+5G>A (n.1092+5G>A) c.1167+5G>A (n.1167+5G>A) c.939+5G>A (n.939+5G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.107917467G= | CA1732860091 | DLD | c.1236+5G= (n.1236+5G=) c.*910+5G= (n.*910+5G=) c.1092+5G= (n.1092+5G=) c.1167+5G= (n.1167+5G=) c.939+5G= (n.939+5G=) | |
| 7 | g.107917468T>G | CA4434647 | DLD | c.1236+6T>G (n.1236+6T>G) c.*910+6T>G (n.*910+6T>G) c.1092+6T>G (n.1092+6T>G) c.1167+6T>G (n.1167+6T>G) c.939+6T>G (n.939+6T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.107917468T= | CA1732860092 | DLD | c.1236+6T= (n.1236+6T=) c.*910+6T= (n.*910+6T=) c.1092+6T= (n.1092+6T=) c.1167+6T= (n.1167+6T=) c.939+6T= (n.939+6T=) | |
| 7 | g.107917469C>A | CA2580076211 | DLD | c.1236+7C>A (n.1236+7C>A) c.*910+7C>A (n.*910+7C>A) c.1092+7C>A (n.1092+7C>A) c.1167+7C>A (n.1167+7C>A) c.939+7C>A (n.939+7C>A) | ClinVar gnomAD v4 |
| 7 | g.107917469C= | CA1732860093 | DLD | c.1236+7C= (n.1236+7C=) c.*910+7C= (n.*910+7C=) c.1092+7C= (n.1092+7C=) c.1167+7C= (n.1167+7C=) c.939+7C= (n.939+7C=) | |
| 7 | g.107917469C>T | CA658796992 | DLD | c.1236+7C>T (n.1236+7C>T) c.*910+7C>T (n.*910+7C>T) c.1092+7C>T (n.1092+7C>T) c.1167+7C>T (n.1167+7C>T) c.939+7C>T (n.939+7C>T) | ClinVar dbSNP |
| 7 | g.107917470T>A | CA164258477 | DLD | c.1236+8T>A (n.1236+8T>A) c.*910+8T>A (n.*910+8T>A) c.1092+8T>A (n.1092+8T>A) c.1167+8T>A (n.1167+8T>A) c.939+8T>A (n.939+8T>A) | dbSNP |
| 7 | g.107917470T>C | CA4434648 | DLD | c.1236+8T>C (n.1236+8T>C) c.*910+8T>C (n.*910+8T>C) c.1092+8T>C (n.1092+8T>C) c.1167+8T>C (n.1167+8T>C) c.939+8T>C (n.939+8T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.107917470T= | CA1732860094 | DLD | c.1236+8T= (n.1236+8T=) c.*910+8T= (n.*910+8T=) c.1092+8T= (n.1092+8T=) c.1167+8T= (n.1167+8T=) c.939+8T= (n.939+8T=) | |
| 7 | g.107917471G>A | CA164258483 | DLD | c.1236+9G>A (n.1236+9G>A) c.*910+9G>A (n.*910+9G>A) c.1092+9G>A (n.1092+9G>A) c.1167+9G>A (n.1167+9G>A) c.939+9G>A (n.939+9G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107917471G= | CA1732860095 | DLD | c.1236+9G= (n.1236+9G=) c.*910+9G= (n.*910+9G=) c.1092+9G= (n.1092+9G=) c.1167+9G= (n.1167+9G=) c.939+9G= (n.939+9G=) | |
| 7 | g.107917475A= | CA1732860096 | DLD | c.1236+13A= (n.1236+13A=) c.*910+13A= (n.*910+13A=) c.1092+13A= (n.1092+13A=) c.1167+13A= (n.1167+13A=) c.939+13A= (n.939+13A=) | |
| 7 | g.107917475A>G | CA290610 | DLD | c.1236+13A>G (n.1236+13A>G) c.*910+13A>G (n.*910+13A>G) c.1092+13A>G (n.1092+13A>G) c.1167+13A>G (n.1167+13A>G) c.939+13A>G (n.939+13A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107917475A>T | CA2684459027 | DLD | c.1236+13A>T (n.1236+13A>T) c.*910+13A>T (n.*910+13A>T) c.1092+13A>T (n.1092+13A>T) c.1167+13A>T (n.1167+13A>T) c.939+13A>T (n.939+13A>T) | ClinVar gnomAD v4 |
| 7 | g.107917477G>A | CA164258488 | DLD | c.1236+15G>A (n.1236+15G>A) c.*910+15G>A (n.*910+15G>A) c.1092+15G>A (n.1092+15G>A) c.1167+15G>A (n.1167+15G>A) c.939+15G>A (n.939+15G>A) | dbSNP gnomAD v4 |
| 7 | g.107917477G= | CA1732860097 | DLD | c.1236+15G= (n.1236+15G=) c.*910+15G= (n.*910+15G=) c.1092+15G= (n.1092+15G=) c.1167+15G= (n.1167+15G=) c.939+15G= (n.939+15G=) | |
| 7 | g.107917478G>A | CA2573141457 | DLD | c.1236+16G>A (n.1236+16G>A) c.*910+16G>A (n.*910+16G>A) c.1092+16G>A (n.1092+16G>A) c.1167+16G>A (n.1167+16G>A) c.939+16G>A (n.939+16G>A) | ClinVar dbSNP |
| 7 | g.107917478G>T | CA2739278346 | DLD | c.1236+16G>T (n.1236+16G>T) c.*910+16G>T (n.*910+16G>T) c.1092+16G>T (n.1092+16G>T) c.1167+16G>T (n.1167+16G>T) c.939+16G>T (n.939+16G>T) | ClinVar |
| 7 | g.107917479G>A | CA577199180 | DLD | c.1236+17G>A (n.1236+17G>A) c.*910+17G>A (n.*910+17G>A) c.1092+17G>A (n.1092+17G>A) c.1167+17G>A (n.1167+17G>A) c.939+17G>A (n.939+17G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107917479G= | CA1732860098 | DLD | c.1236+17G= (n.1236+17G=) c.*910+17G= (n.*910+17G=) c.1092+17G= (n.1092+17G=) c.1167+17G= (n.1167+17G=) c.939+17G= (n.939+17G=) | |
| 7 | g.107917479G>T | CA2684459028 | DLD | c.1236+17G>T (n.1236+17G>T) c.*910+17G>T (n.*910+17G>T) c.1092+17G>T (n.1092+17G>T) c.1167+17G>T (n.1167+17G>T) c.939+17G>T (n.939+17G>T) | gnomAD v4 |
| 7 | g.107917481G>C | CA4434649 | DLD | c.1236+19G>C (n.1236+19G>C) c.*910+19G>C (n.*910+19G>C) c.1092+19G>C (n.1092+19G>C) c.1167+19G>C (n.1167+19G>C) c.939+19G>C (n.939+19G>C) | dbSNP ExAC gnomAD v2 |
| 7 | g.107917481G= | CA1732860099 | DLD | c.1236+19G= (n.1236+19G=) c.*910+19G= (n.*910+19G=) c.1092+19G= (n.1092+19G=) c.1167+19G= (n.1167+19G=) c.939+19G= (n.939+19G=) | |
| 7 | g.107917481_107917482insAAAA | CA4434650 | DLD | c.1236+19_1236+20insAAAA (n.1236+19_1236+20insAAAA) c.*910+19_*910+20insAAAA (n.*910+19_*910+20insAAAA) c.1092+19_1092+20insAAAA (n.1092+19_1092+20insAAAA) c.1167+19_1167+20insAAAA (n.1167+19_1167+20insAAAA) c.939+19_939+20insAAAA (n.939+19_939+20insAAAA) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.107917482G= | CA1732860100 | DLD | c.1236+20G= (n.1236+20G=) c.*910+20G= (n.*910+20G=) c.1092+20G= (n.1092+20G=) c.1167+20G= (n.1167+20G=) c.939+20G= (n.939+20G=) | |
| 7 | g.107917486dup | CA577199181 | DLD | c.1236+24dup (n.1236+24dup) c.*910+24dup (n.*910+24dup) c.1092+24dup (n.1092+24dup) c.1167+24dup (n.1167+24dup) c.939+24dup (n.939+24dup) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.107917486T>C | CA4434651 | DLD | c.1236+24T>C (n.1236+24T>C) c.*910+24T>C (n.*910+24T>C) c.1092+24T>C (n.1092+24T>C) c.1167+24T>C (n.1167+24T>C) c.939+24T>C (n.939+24T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.107917486T= | CA1732860101 | DLD | c.1236+24T= (n.1236+24T=) c.*910+24T= (n.*910+24T=) c.1092+24T= (n.1092+24T=) c.1167+24T= (n.1167+24T=) c.939+24T= (n.939+24T=) | |
| 7 | g.107917489G>A | CA4434652 | DLD | c.1236+27G>A (n.1236+27G>A) c.*910+27G>A (n.*910+27G>A) c.1092+27G>A (n.1092+27G>A) c.1167+27G>A (n.1167+27G>A) c.939+27G>A (n.939+27G>A) | dbSNP ExAC gnomAD v2 |
| 7 | g.107917489G= | CA1732860102 | DLD | c.1236+27G= (n.1236+27G=) c.*910+27G= (n.*910+27G=) c.1092+27G= (n.1092+27G=) c.1167+27G= (n.1167+27G=) c.939+27G= (n.939+27G=) | |
| 7 | g.107917490C>G | CA2684459029 | DLD | c.1236+28C>G (n.1236+28C>G) c.*910+28C>G (n.*910+28C>G) c.1092+28C>G (n.1092+28C>G) c.1167+28C>G (n.1167+28C>G) c.939+28C>G (n.939+28C>G) | gnomAD v4 |
| 7 | g.107917491C>T | CA2578990200 | DLD | c.1236+29C>T (n.1236+29C>T) c.*910+29C>T (n.*910+29C>T) c.1092+29C>T (n.1092+29C>T) c.1167+29C>T (n.1167+29C>T) c.939+29C>T (n.939+29C>T) | |
| 7 | g.107917493A= | CA1732860103 | DLD | c.1236+31A= (n.1236+31A=) c.*910+31A= (n.*910+31A=) c.1092+31A= (n.1092+31A=) c.1167+31A= (n.1167+31A=) c.939+31A= (n.939+31A=) | |
| 7 | g.107917493A>G | CA4434653 | DLD | c.1236+31A>G (n.1236+31A>G) c.*910+31A>G (n.*910+31A>G) c.1092+31A>G (n.1092+31A>G) c.1167+31A>G (n.1167+31A>G) c.939+31A>G (n.939+31A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107917493A>T | CA4434654 | DLD | c.1236+31A>T (n.1236+31A>T) c.*910+31A>T (n.*910+31A>T) c.1092+31A>T (n.1092+31A>T) c.1167+31A>T (n.1167+31A>T) c.939+31A>T (n.939+31A>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.107917494T>A | CA2684459033 | DLD | c.1236+32T>A (n.1236+32T>A) c.*910+32T>A (n.*910+32T>A) c.1092+32T>A (n.1092+32T>A) c.1167+32T>A (n.1167+32T>A) c.939+32T>A (n.939+32T>A) | gnomAD v4 |
| 7 | g.107917494T>C | CA1732860105 | DLD | c.1236+32T>C (n.1236+32T>C) c.*910+32T>C (n.*910+32T>C) c.1092+32T>C (n.1092+32T>C) c.1167+32T>C (n.1167+32T>C) c.939+32T>C (n.939+32T>C) | dbSNP |
| 7 | g.107917494T= | CA1732860104 | DLD | c.1236+32T= (n.1236+32T=) c.*910+32T= (n.*910+32T=) c.1092+32T= (n.1092+32T=) c.1167+32T= (n.1167+32T=) c.939+32T= (n.939+32T=) | |
| 7 | g.107917496_107917499dup | CA2684459030 | DLD | c.1236+34_1236+37dup (n.1236+34_1236+37dup) c.*910+34_*910+37dup (n.*910+34_*910+37dup) c.1092+34_1092+37dup (n.1092+34_1092+37dup) c.1167+34_1167+37dup (n.1167+34_1167+37dup) c.939+34_939+37dup (n.939+34_939+37dup) | gnomAD v4 |
| 7 | g.107917498_107917499del | CA2684459031 | DLD | c.1236+36_1236+37del (n.1236+36_1236+37del) c.*910+36_*910+37del (n.*910+36_*910+37del) c.1092+36_1092+37del (n.1092+36_1092+37del) c.1167+36_1167+37del (n.1167+36_1167+37del) c.939+36_939+37del (n.939+36_939+37del) | gnomAD v4 |
| 7 | g.107917498_107917506del | CA2684459032 | DLD | c.1236+36_1236+44del (n.1236+36_1236+44del) c.*910+36_*910+44del (n.*910+36_*910+44del) c.1092+36_1092+44del (n.1092+36_1092+44del) c.1167+36_1167+44del (n.1167+36_1167+44del) c.939+36_939+44del (n.939+36_939+44del) | gnomAD v4 |
| 7 | g.107917495G>A | CA831210003 | DLD | c.1236+33G>A (n.1236+33G>A) c.*910+33G>A (n.*910+33G>A) c.1092+33G>A (n.1092+33G>A) c.1167+33G>A (n.1167+33G>A) c.939+33G>A (n.939+33G>A) | dbSNP |
| 7 | g.107917495G= | CA1732860106 | DLD | c.1236+33G= (n.1236+33G=) c.*910+33G= (n.*910+33G=) c.1092+33G= (n.1092+33G=) c.1167+33G= (n.1167+33G=) c.939+33G= (n.939+33G=) | |
| 7 | g.107917497G= | CA1732860107 | DLD | c.1236+35G= (n.1236+35G=) c.*910+35G= (n.*910+35G=) c.1092+35G= (n.1092+35G=) c.1167+35G= (n.1167+35G=) c.939+35G= (n.939+35G=) | |
| 7 | g.107917497G>T | CA4434655 | DLD | c.1236+35G>T (n.1236+35G>T) c.*910+35G>T (n.*910+35G>T) c.1092+35G>T (n.1092+35G>T) c.1167+35G>T (n.1167+35G>T) c.939+35G>T (n.939+35G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.107917498T>A | CA2684459034 | DLD | c.1236+36T>A (n.1236+36T>A) c.*910+36T>A (n.*910+36T>A) c.1092+36T>A (n.1092+36T>A) c.1167+36T>A (n.1167+36T>A) c.939+36T>A (n.939+36T>A) | gnomAD v4 |
| 7 | g.107917499G>T | CA651806497 | DLD | c.1236+37G>T (n.1236+37G>T) c.*910+37G>T (n.*910+37G>T) c.1092+37G>T (n.1092+37G>T) c.1167+37G>T (n.1167+37G>T) c.939+37G>T (n.939+37G>T) | COSMIC |
| 7 | g.107917502T>C | CA2578990201 | DLD | c.1236+40T>C (n.1236+40T>C) c.*910+40T>C (n.*910+40T>C) c.1092+40T>C (n.1092+40T>C) c.1167+40T>C (n.1167+40T>C) c.939+40T>C (n.939+40T>C) | gnomAD v4 |
| 7 | g.107917503T>A | CA4434656 | DLD | c.1236+41T>A (n.1236+41T>A) c.*910+41T>A (n.*910+41T>A) c.1092+41T>A (n.1092+41T>A) c.1167+41T>A (n.1167+41T>A) c.939+41T>A (n.939+41T>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.107917503T>G | CA2684459035 | DLD | c.1236+41T>G (n.1236+41T>G) c.*910+41T>G (n.*910+41T>G) c.1092+41T>G (n.1092+41T>G) c.1167+41T>G (n.1167+41T>G) c.939+41T>G (n.939+41T>G) | gnomAD v4 |
| 7 | g.107917503T= | CA1732860108 | DLD | c.1236+41T= (n.1236+41T=) c.*910+41T= (n.*910+41T=) c.1092+41T= (n.1092+41T=) c.1167+41T= (n.1167+41T=) c.939+41T= (n.939+41T=) | |
| 7 | g.107917504G>A | CA4434657 | DLD | c.1236+42G>A (n.1236+42G>A) c.*910+42G>A (n.*910+42G>A) c.1092+42G>A (n.1092+42G>A) c.1167+42G>A (n.1167+42G>A) c.939+42G>A (n.939+42G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107917504G= | CA1732860109 | DLD | c.1236+42G= (n.1236+42G=) c.*910+42G= (n.*910+42G=) c.1092+42G= (n.1092+42G=) c.1167+42G= (n.1167+42G=) c.939+42G= (n.939+42G=) | |
| 7 | g.107917504G>T | CA831210009 | DLD | c.1236+42G>T (n.1236+42G>T) c.*910+42G>T (n.*910+42G>T) c.1092+42G>T (n.1092+42G>T) c.1167+42G>T (n.1167+42G>T) c.939+42G>T (n.939+42G>T) | dbSNP |
| 7 | g.107917508C>A | CA2578990202 | DLD | c.1236+46C>A (n.1236+46C>A) c.*910+46C>A (n.*910+46C>A) c.1092+46C>A (n.1092+46C>A) c.1167+46C>A (n.1167+46C>A) c.939+46C>A (n.939+46C>A) | gnomAD v4 |
| 7 | g.107917508C= | CA1732860110 | DLD | c.1236+46C= (n.1236+46C=) c.*910+46C= (n.*910+46C=) c.1092+46C= (n.1092+46C=) c.1167+46C= (n.1167+46C=) c.939+46C= (n.939+46C=) | |
| 7 | g.107917508C>T | CA577199186 | DLD | c.1236+46C>T (n.1236+46C>T) c.*910+46C>T (n.*910+46C>T) c.1092+46C>T (n.1092+46C>T) c.1167+46C>T (n.1167+46C>T) c.939+46C>T (n.939+46C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107917509A= | CA1732860111 | DLD | c.1236+47A= (n.1236+47A=) c.*910+47A= (n.*910+47A=) c.1092+47A= (n.1092+47A=) c.1167+47A= (n.1167+47A=) c.939+47A= (n.939+47A=) | |
| 7 | g.107917509A>G | CA4434658 | DLD | c.1236+47A>G (n.1236+47A>G) c.*910+47A>G (n.*910+47A>G) c.1092+47A>G (n.1092+47A>G) c.1167+47A>G (n.1167+47A>G) c.939+47A>G (n.939+47A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |