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.107917313G>A | CA368858134 | DLD | c.1087G>A (p.Ala363Thr) c.*761G>A (n.*761G>A) c.943G>A (p.Ala315Thr) c.1018G>A (p.Ala340Thr) c.790G>A (p.Ala264Thr) | |
| 7 | g.107917313G>C | CA368858136 | DLD | c.1087G>C (p.Ala363Pro) c.*761G>C (n.*761G>C) c.943G>C (p.Ala315Pro) c.1018G>C (p.Ala340Pro) c.790G>C (p.Ala264Pro) | |
| 7 | g.107917313G>T | CA368858137 | DLD | c.1087G>T (p.Ala363Ser) c.*761G>T (n.*761G>T) c.943G>T (p.Ala315Ser) c.1018G>T (p.Ala340Ser) c.790G>T (p.Ala264Ser) | gnomAD v4 |
| 7 | g.107917314C>A | CA368858139 | DLD | c.1088C>A (p.Ala363Asp) c.*762C>A (n.*762C>A) c.944C>A (p.Ala315Asp) c.1019C>A (p.Ala340Asp) c.791C>A (p.Ala264Asp) | |
| 7 | g.107917314C= | CA1732860029 | DLD | c.1088C= (p.Ala363=) c.*762C= (n.*762C=) c.944C= (p.Ala315=) c.1019C= (p.Ala340=) c.791C= (p.Ala264=) | |
| 7 | g.107917314C>G | CA368858142 | DLD | c.1088C>G (p.Ala363Gly) c.*762C>G (n.*762C>G) c.944C>G (p.Ala315Gly) c.1019C>G (p.Ala340Gly) c.791C>G (p.Ala264Gly) | |
| 7 | g.107917314C>T | CA4434626 | DLD | c.1088C>T (p.Ala363Val) c.*762C>T (n.*762C>T) c.944C>T (p.Ala315Val) c.1019C>T (p.Ala340Val) c.791C>T (p.Ala264Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.107917315T>A | CA457109402 | DLD | c.1089T>A (p.Ala363=) c.*763T>A (n.*763T>A) c.945T>A (p.Ala315=) c.1020T>A (p.Ala340=) c.792T>A (p.Ala264=) | |
| 7 | g.107917315T>C | CA457109404 | DLD | c.1089T>C (p.Ala363=) c.*763T>C (n.*763T>C) c.945T>C (p.Ala315=) c.1020T>C (p.Ala340=) c.792T>C (p.Ala264=) | |
| 7 | g.107917315T>G | CA457109403 | DLD | c.1089T>G (p.Ala363=) c.*763T>G (n.*763T>G) c.945T>G (p.Ala315=) c.1020T>G (p.Ala340=) c.792T>G (p.Ala264=) | |
| 7 | g.107917316C>A | CA368858144 | DLD | c.1090C>A (p.His364Asn) c.*764C>A (n.*764C>A) c.946C>A (p.His316Asn) c.1021C>A (p.His341Asn) c.793C>A (p.His265Asn) | gnomAD v4 |
| 7 | g.107917316C>G | CA368858145 | DLD | c.1090C>G (p.His364Asp) c.*764C>G (n.*764C>G) c.946C>G (p.His316Asp) c.1021C>G (p.His341Asp) c.793C>G (p.His265Asp) | |
| 7 | g.107917316C>T | CA368858147 | DLD | c.1090C>T (p.His364Tyr) c.*764C>T (n.*764C>T) c.946C>T (p.His316Tyr) c.1021C>T (p.His341Tyr) c.793C>T (p.His265Tyr) | gnomAD v4 COSMIC COSMIC |
| 7 | g.107917317A>C | CA368858149 | DLD | c.1091A>C (p.His364Pro) c.*765A>C (n.*765A>C) c.947A>C (p.His316Pro) c.1022A>C (p.His341Pro) c.794A>C (p.His265Pro) | |
| 7 | g.107917317A>G | CA368858150 | DLD | c.1091A>G (p.His364Arg) c.*765A>G (n.*765A>G) c.947A>G (p.His316Arg) c.1022A>G (p.His341Arg) c.794A>G (p.His265Arg) | |
| 7 | g.107917317A>T | CA368858151 | DLD | c.1091A>T (p.His364Leu) c.*765A>T (n.*765A>T) c.947A>T (p.His316Leu) c.1022A>T (p.His341Leu) c.794A>T (p.His265Leu) | |
| 7 | g.107917318C>A | CA368858153 | DLD | c.1092C>A (p.His364Gln) c.*766C>A (n.*766C>A) c.948C>A (p.His316Gln) c.1023C>A (p.His341Gln) c.795C>A (p.His265Gln) | |
| 7 | g.107917318C>G | CA368858155 | DLD | c.1092C>G (p.His364Gln) c.*766C>G (n.*766C>G) c.948C>G (p.His316Gln) c.1023C>G (p.His341Gln) c.795C>G (p.His265Gln) | gnomAD v4 |
| 7 | g.107917318C>T | CA457109407 | DLD | c.1092C>T (p.His364=) c.*766C>T (n.*766C>T) c.948C>T (p.His316=) c.1023C>T (p.His341=) c.795C>T (p.His265=) | |
| 7 | g.107917319A>C | CA368858156 | DLD | c.1093A>C (p.Lys365Gln) c.*767A>C (n.*767A>C) c.949A>C (p.Lys317Gln) c.1024A>C (p.Lys342Gln) c.796A>C (p.Lys266Gln) | |
| 7 | g.107917319A>G | CA368858157 | DLD | c.1093A>G (p.Lys365Glu) c.*767A>G (n.*767A>G) c.949A>G (p.Lys317Glu) c.1024A>G (p.Lys342Glu) c.796A>G (p.Lys266Glu) | |
| 7 | g.107917319A>T | CA368858159 | DLD | c.1093A>T (p.Lys365Ter) c.*767A>T (n.*767A>T) c.949A>T (p.Lys317Ter) c.1024A>T (p.Lys342Ter) c.796A>T (p.Lys266Ter) | |
| 7 | g.107917320A>C | CA368858164 | DLD | c.1094A>C (p.Lys365Thr) c.*768A>C (n.*768A>C) c.950A>C (p.Lys317Thr) c.1025A>C (p.Lys342Thr) c.797A>C (p.Lys266Thr) | |
| 7 | g.107917320A>G | CA368858163 | DLD | c.1094A>G (p.Lys365Arg) c.*768A>G (n.*768A>G) c.950A>G (p.Lys317Arg) c.1025A>G (p.Lys342Arg) c.797A>G (p.Lys266Arg) | |
| 7 | g.107917320A>T | CA368858161 | DLD | c.1094A>T (p.Lys365Ile) c.*768A>T (n.*768A>T) c.950A>T (p.Lys317Ile) c.1025A>T (p.Lys342Ile) c.797A>T (p.Lys266Ile) | |
| 7 | g.107917321A>C | CA368858165 | DLD | c.1095A>C (p.Lys365Asn) c.*769A>C (n.*769A>C) c.951A>C (p.Lys317Asn) c.1026A>C (p.Lys342Asn) c.798A>C (p.Lys266Asn) | |
| 7 | g.107917321A>G | CA457109410 | DLD | c.1095A>G (p.Lys365=) c.*769A>G (n.*769A>G) c.951A>G (p.Lys317=) c.1026A>G (p.Lys342=) c.798A>G (p.Lys266=) | ClinVar |
| 7 | g.107917321A>T | CA368858167 | DLD | c.1095A>T (p.Lys365Asn) c.*769A>T (n.*769A>T) c.951A>T (p.Lys317Asn) c.1026A>T (p.Lys342Asn) c.798A>T (p.Lys266Asn) | |
| 7 | g.107917322G>A | CA368858169 | DLD | c.1096G>A (p.Ala366Thr) c.*770G>A (n.*770G>A) c.952G>A (p.Ala318Thr) c.1027G>A (p.Ala343Thr) c.799G>A (p.Ala267Thr) | |
| 7 | g.107917322G>C | CA368858172 | DLD | c.1096G>C (p.Ala366Pro) c.*770G>C (n.*770G>C) c.952G>C (p.Ala318Pro) c.1027G>C (p.Ala343Pro) c.799G>C (p.Ala267Pro) | |
| 7 | g.107917322G>T | CA368858171 | DLD | c.1096G>T (p.Ala366Ser) c.*770G>T (n.*770G>T) c.952G>T (p.Ala318Ser) c.1027G>T (p.Ala343Ser) c.799G>T (p.Ala267Ser) | |
| 7 | g.107917323C>A | CA368858173 | DLD | c.1097C>A (p.Ala366Glu) c.*771C>A (n.*771C>A) c.953C>A (p.Ala318Glu) c.1028C>A (p.Ala343Glu) c.800C>A (p.Ala267Glu) | |
| 7 | g.107917323C>G | CA368858174 | DLD | c.1097C>G (p.Ala366Gly) c.*771C>G (n.*771C>G) c.953C>G (p.Ala318Gly) c.1028C>G (p.Ala343Gly) c.800C>G (p.Ala267Gly) | |
| 7 | g.107917323C>T | CA368858176 | DLD | c.1097C>T (p.Ala366Val) c.*771C>T (n.*771C>T) c.953C>T (p.Ala318Val) c.1028C>T (p.Ala343Val) c.800C>T (p.Ala267Val) | |
| 7 | g.107917323_107917324insCAAT | CA2553443057 | DLD | c.1097_1098insCAAT (p.Glu367AsnfsTer4) c.*771_*772insCAAT (n.*771_*772insCAAT) c.953_954insCAAT (p.Glu319AsnfsTer4) c.1028_1029insCAAT (p.Glu344AsnfsTer4) c.800_801insCAAT (p.Glu268AsnfsTer4) | |
| 7 | g.107917324A>C | CA457109415 | DLD | c.1098A>C (p.Ala366=) c.*772A>C (n.*772A>C) c.954A>C (p.Ala318=) c.1029A>C (p.Ala343=) c.801A>C (p.Ala267=) | |
| 7 | g.107917324A>G | CA457109417 | DLD | c.1098A>G (p.Ala366=) c.*772A>G (n.*772A>G) c.954A>G (p.Ala318=) c.1029A>G (p.Ala343=) c.801A>G (p.Ala267=) | |
| 7 | g.107917324A>T | CA457109420 | DLD | c.1098A>T (p.Ala366=) c.*772A>T (n.*772A>T) c.954A>T (p.Ala318=) c.1029A>T (p.Ala343=) c.801A>T (p.Ala267=) | |
| 7 | g.107917325G>A | CA368858178 | DLD | c.1099G>A (p.Glu367Lys) c.*773G>A (n.*773G>A) c.955G>A (p.Glu319Lys) c.1030G>A (p.Glu344Lys) c.802G>A (p.Glu268Lys) | |
| 7 | g.107917325G>C | CA368858179 | DLD | c.1099G>C (p.Glu367Gln) c.*773G>C (n.*773G>C) c.955G>C (p.Glu319Gln) c.1030G>C (p.Glu344Gln) c.802G>C (p.Glu268Gln) | |
| 7 | g.107917325G>T | CA368858180 | DLD | c.1099G>T (p.Glu367Ter) c.*773G>T (n.*773G>T) c.955G>T (p.Glu319Ter) c.1030G>T (p.Glu344Ter) c.802G>T (p.Glu268Ter) | gnomAD v4 |
| 7 | g.107917326A= | CA1732860030 | DLD | c.1100A= (p.Glu367=) c.*774A= (n.*774A=) c.956A= (p.Glu319=) c.1031A= (p.Glu344=) c.803A= (p.Glu268=) | |
| 7 | g.107917326A>C | CA368858181 | DLD | c.1100A>C (p.Glu367Ala) c.*774A>C (n.*774A>C) c.956A>C (p.Glu319Ala) c.1031A>C (p.Glu344Ala) c.803A>C (p.Glu268Ala) | |
| 7 | g.107917326A>G | CA4434627 | DLD | c.1100A>G (p.Glu367Gly) c.*774A>G (n.*774A>G) c.956A>G (p.Glu319Gly) c.1031A>G (p.Glu344Gly) c.803A>G (p.Glu268Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107917326A>T | CA368858183 | DLD | c.1100A>T (p.Glu367Val) c.*774A>T (n.*774A>T) c.956A>T (p.Glu319Val) c.1031A>T (p.Glu344Val) c.803A>T (p.Glu268Val) | |
| 7 | g.107917327G>A | CA4434628 | DLD | c.1101G>A (p.Glu367=) c.*775G>A (n.*775G>A) c.957G>A (p.Glu319=) c.1032G>A (p.Glu344=) c.804G>A (p.Glu268=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107917327G>C | CA368858185 | DLD | c.1101G>C (p.Glu367Asp) c.*775G>C (n.*775G>C) c.957G>C (p.Glu319Asp) c.1032G>C (p.Glu344Asp) c.804G>C (p.Glu268Asp) | |
| 7 | g.107917327G= | CA1732860031 | DLD | c.1101G= (p.Glu367=) c.*775G= (n.*775G=) c.957G= (p.Glu319=) c.1032G= (p.Glu344=) c.804G= (p.Glu268=) | |
| 7 | g.107917327G>T | CA368858186 | DLD | c.1101G>T (p.Glu367Asp) c.*775G>T (n.*775G>T) c.957G>T (p.Glu319Asp) c.1032G>T (p.Glu344Asp) c.804G>T (p.Glu268Asp) | |
| 7 | g.107917328G>A | CA368858192 | DLD | c.1102G>A (p.Asp368Asn) c.*776G>A (n.*776G>A) c.958G>A (p.Asp320Asn) c.1033G>A (p.Asp345Asn) c.805G>A (p.Asp269Asn) | gnomAD v4 |
| 7 | g.107917328G>C | CA368858188 | DLD | c.1102G>C (p.Asp368His) c.*776G>C (n.*776G>C) c.958G>C (p.Asp320His) c.1033G>C (p.Asp345His) c.805G>C (p.Asp269His) | |
| 7 | g.107917328G>T | CA368858190 | DLD | c.1102G>T (p.Asp368Tyr) c.*776G>T (n.*776G>T) c.958G>T (p.Asp320Tyr) c.1033G>T (p.Asp345Tyr) c.805G>T (p.Asp269Tyr) | |
| 7 | g.107917329A>C | CA368858193 | DLD | c.1103A>C (p.Asp368Ala) c.*777A>C (n.*777A>C) c.959A>C (p.Asp320Ala) c.1034A>C (p.Asp345Ala) c.806A>C (p.Asp269Ala) | |
| 7 | g.107917329A>G | CA368858194 | DLD | c.1103A>G (p.Asp368Gly) c.*777A>G (n.*777A>G) c.959A>G (p.Asp320Gly) c.1034A>G (p.Asp345Gly) c.806A>G (p.Asp269Gly) | |
| 7 | g.107917329A>T | CA368858195 | DLD | c.1103A>T (p.Asp368Val) c.*777A>T (n.*777A>T) c.959A>T (p.Asp320Val) c.1034A>T (p.Asp345Val) c.806A>T (p.Asp269Val) | |
| 7 | g.107917330T>A | CA368858196 | DLD | c.1104T>A (p.Asp368Glu) c.*778T>A (n.*778T>A) c.960T>A (p.Asp320Glu) c.1035T>A (p.Asp345Glu) c.807T>A (p.Asp269Glu) | |
| 7 | g.107917330T>C | CA457109429 | DLD | c.1104T>C (p.Asp368=) c.*778T>C (n.*778T>C) c.960T>C (p.Asp320=) c.1035T>C (p.Asp345=) c.807T>C (p.Asp269=) | |
| 7 | g.107917330T>G | CA368858197 | DLD | c.1104T>G (p.Asp368Glu) c.*778T>G (n.*778T>G) c.960T>G (p.Asp320Glu) c.1035T>G (p.Asp345Glu) c.807T>G (p.Asp269Glu) | |
| 7 | g.107917331G>A | CA368858199 | DLD | c.1105G>A (p.Glu369Lys) c.*779G>A (n.*779G>A) c.961G>A (p.Glu321Lys) c.1036G>A (p.Glu346Lys) c.808G>A (p.Glu270Lys) | dbSNP |
| 7 | g.107917331G>C | CA368858200 | DLD | c.1105G>C (p.Glu369Gln) c.*779G>C (n.*779G>C) c.961G>C (p.Glu321Gln) c.1036G>C (p.Glu346Gln) c.808G>C (p.Glu270Gln) | |
| 7 | g.107917331G= | CA1732860032 | DLD | c.1105G= (p.Glu369=) c.*779G= (n.*779G=) c.961G= (p.Glu321=) c.1036G= (p.Glu346=) c.808G= (p.Glu270=) | |
| 7 | g.107917331G>T | CA368858202 | DLD | c.1105G>T (p.Glu369Ter) c.*779G>T (n.*779G>T) c.961G>T (p.Glu321Ter) c.1036G>T (p.Glu346Ter) c.808G>T (p.Glu270Ter) | ClinVar dbSNP COSMIC COSMIC |
| 7 | g.107917332A>C | CA368858203 | DLD | c.1106A>C (p.Glu369Ala) c.*780A>C (n.*780A>C) c.962A>C (p.Glu321Ala) c.1037A>C (p.Glu346Ala) c.809A>C (p.Glu270Ala) | |
| 7 | g.107917332A>G | CA368858204 | DLD | c.1106A>G (p.Glu369Gly) c.*780A>G (n.*780A>G) c.962A>G (p.Glu321Gly) c.1037A>G (p.Glu346Gly) c.809A>G (p.Glu270Gly) | |
| 7 | g.107917332A>T | CA368858205 | DLD | c.1106A>T (p.Glu369Val) c.*780A>T (n.*780A>T) c.962A>T (p.Glu321Val) c.1037A>T (p.Glu346Val) c.809A>T (p.Glu270Val) | |
| 7 | g.107917333A>C | CA368858209 | DLD | c.1107A>C (p.Glu369Asp) c.*781A>C (n.*781A>C) c.963A>C (p.Glu321Asp) c.1038A>C (p.Glu346Asp) c.810A>C (p.Glu270Asp) | |
| 7 | g.107917333A>G | CA457109432 | DLD | c.1107A>G (p.Glu369=) c.*781A>G (n.*781A>G) c.963A>G (p.Glu321=) c.1038A>G (p.Glu346=) c.810A>G (p.Glu270=) | |
| 7 | g.107917333A>T | CA368858207 | DLD | c.1107A>T (p.Glu369Asp) c.*781A>T (n.*781A>T) c.963A>T (p.Glu321Asp) c.1038A>T (p.Glu346Asp) c.810A>T (p.Glu270Asp) | |
| 7 | g.107917334G>A | CA368858211 | DLD | c.1108G>A (p.Gly370Ser) c.*782G>A (n.*782G>A) c.964G>A (p.Gly322Ser) c.1039G>A (p.Gly347Ser) c.811G>A (p.Gly271Ser) | |
| 7 | g.107917334G>C | CA368858212 | DLD | c.1108G>C (p.Gly370Arg) c.*782G>C (n.*782G>C) c.964G>C (p.Gly322Arg) c.1039G>C (p.Gly347Arg) c.811G>C (p.Gly271Arg) | |
| 7 | g.107917334G>T | CA368858214 | DLD | c.1108G>T (p.Gly370Cys) c.*782G>T (n.*782G>T) c.964G>T (p.Gly322Cys) c.1039G>T (p.Gly347Cys) c.811G>T (p.Gly271Cys) | |
| 7 | g.107917335G>A | CA368858216 | DLD | c.1109G>A (p.Gly370Asp) c.*783G>A (n.*783G>A) c.965G>A (p.Gly322Asp) c.1040G>A (p.Gly347Asp) c.812G>A (p.Gly271Asp) | gnomAD v4 |
| 7 | g.107917335G>C | CA368858218 | DLD | c.1109G>C (p.Gly370Ala) c.*783G>C (n.*783G>C) c.965G>C (p.Gly322Ala) c.1040G>C (p.Gly347Ala) c.812G>C (p.Gly271Ala) | dbSNP |
| 7 | g.107917335G= | CA1732860033 | DLD | c.1109G= (p.Gly370=) c.*783G= (n.*783G=) c.965G= (p.Gly322=) c.1040G= (p.Gly347=) c.812G= (p.Gly271=) | |
| 7 | g.107917335G>T | CA368858219 | DLD | c.1109G>T (p.Gly370Val) c.*783G>T (n.*783G>T) c.965G>T (p.Gly322Val) c.1040G>T (p.Gly347Val) c.812G>T (p.Gly271Val) | gnomAD v4 |
| 7 | g.107917335_107917338dup | CA2580076206 | DLD | c.1109_1112dup (p.Ile371MetfsTer6) c.*783_*786dup (n.*783_*786dup) c.965_968dup (p.Ile323MetfsTer6) c.1040_1043dup (p.Ile348MetfsTer6) c.812_815dup (p.Ile272MetfsTer6) | ClinVar |
| 7 | g.107917336C>A | CA457109437 | DLD | c.1110C>A (p.Gly370=) c.*784C>A (n.*784C>A) c.966C>A (p.Gly322=) c.1041C>A (p.Gly347=) c.813C>A (p.Gly271=) | |
| 7 | g.107917336C= | CA1732860034 | DLD | c.1110C= (p.Gly370=) c.*784C= (n.*784C=) c.966C= (p.Gly322=) c.1041C= (p.Gly347=) c.813C= (p.Gly271=) | |
| 7 | g.107917336C>G | CA457109438 | DLD | c.1110C>G (p.Gly370=) c.*784C>G (n.*784C>G) c.966C>G (p.Gly322=) c.1041C>G (p.Gly347=) c.813C>G (p.Gly271=) | |
| 7 | g.107917336C>T | CA457109439 | DLD | c.1110C>T (p.Gly370=) c.*784C>T (n.*784C>T) c.966C>T (p.Gly322=) c.1041C>T (p.Gly347=) c.813C>T (p.Gly271=) | dbSNP gnomAD v4 |
| 7 | g.107917337A>C | CA368858221 | DLD | c.1111A>C (p.Ile371Leu) c.*785A>C (n.*785A>C) c.967A>C (p.Ile323Leu) c.1042A>C (p.Ile348Leu) c.814A>C (p.Ile272Leu) | |
| 7 | g.107917337A>G | CA368858223 | DLD | c.1111A>G (p.Ile371Val) c.*785A>G (n.*785A>G) c.967A>G (p.Ile323Val) c.1042A>G (p.Ile348Val) c.814A>G (p.Ile272Val) | |
| 7 | g.107917337A>T | CA368858224 | DLD | c.1111A>T (p.Ile371Phe) c.*785A>T (n.*785A>T) c.967A>T (p.Ile323Phe) c.1042A>T (p.Ile348Phe) c.814A>T (p.Ile272Phe) | |
| 7 | g.107917338T>A | CA368858226 | DLD | c.1112T>A (p.Ile371Asn) c.*786T>A (n.*786T>A) c.968T>A (p.Ile323Asn) c.1043T>A (p.Ile348Asn) c.815T>A (p.Ile272Asn) | |
| 7 | g.107917338T>C | CA368858227 | DLD | c.1112T>C (p.Ile371Thr) c.*786T>C (n.*786T>C) c.968T>C (p.Ile323Thr) c.1043T>C (p.Ile348Thr) c.815T>C (p.Ile272Thr) | |
| 7 | g.107917338T>G | CA368858228 | DLD | c.1112T>G (p.Ile371Ser) c.*786T>G (n.*786T>G) c.968T>G (p.Ile323Ser) c.1043T>G (p.Ile348Ser) c.815T>G (p.Ile272Ser) | |
| 7 | g.107917339T>A | CA457109445 | DLD | c.1113T>A (p.Ile371=) c.*787T>A (n.*787T>A) c.969T>A (p.Ile323=) c.1044T>A (p.Ile348=) c.816T>A (p.Ile272=) | |
| 7 | g.107917339T>C | CA457109443 | DLD | c.1113T>C (p.Ile371=) c.*787T>C (n.*787T>C) c.969T>C (p.Ile323=) c.1044T>C (p.Ile348=) c.816T>C (p.Ile272=) | ClinVar dbSNP gnomAD v4 |
| 7 | g.107917339T>G | CA4434629 | DLD | c.1113T>G (p.Ile371Met) c.*787T>G (n.*787T>G) c.969T>G (p.Ile323Met) c.1044T>G (p.Ile348Met) c.816T>G (p.Ile272Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.107917339T= | CA1732860035 | DLD | c.1113T= (p.Ile371=) c.*787T= (n.*787T=) c.969T= (p.Ile323=) c.1044T= (p.Ile348=) c.816T= (p.Ile272=) | |
| 7 | g.107917340A>C | CA368858235 | DLD | c.1114A>C (p.Ile372Leu) c.*788A>C (n.*788A>C) c.970A>C (p.Ile324Leu) c.1045A>C (p.Ile349Leu) c.817A>C (p.Ile273Leu) | |
| 7 | g.107917340A>G | CA368858232 | DLD | c.1114A>G (p.Ile372Val) c.*788A>G (n.*788A>G) c.970A>G (p.Ile324Val) c.1045A>G (p.Ile349Val) c.817A>G (p.Ile273Val) | gnomAD v4 |
| 7 | g.107917340A>T | CA368858233 | DLD | c.1114A>T (p.Ile372Phe) c.*788A>T (n.*788A>T) c.970A>T (p.Ile324Phe) c.1045A>T (p.Ile349Phe) c.817A>T (p.Ile273Phe) | |
| 7 | g.107917341T>A | CA368858236 | DLD | c.1115T>A (p.Ile372Asn) c.*789T>A (n.*789T>A) c.971T>A (p.Ile324Asn) c.1046T>A (p.Ile349Asn) c.818T>A (p.Ile273Asn) | |
| 7 | g.107917341T>C | CA368858238 | DLD | c.1115T>C (p.Ile372Thr) c.*789T>C (n.*789T>C) c.971T>C (p.Ile324Thr) c.1046T>C (p.Ile349Thr) c.818T>C (p.Ile273Thr) | |
| 7 | g.107917341T>G | CA368858239 | DLD | c.1115T>G (p.Ile372Ser) c.*789T>G (n.*789T>G) c.971T>G (p.Ile324Ser) c.1046T>G (p.Ile349Ser) c.818T>G (p.Ile273Ser) | |
| 7 | g.107917342_107917343del | CA2580076207 | DLD | c.1116_1117del (p.Ile372MetfsTer3) c.*790_*791del (n.*790_*791del) c.972_973del (p.Ile324MetfsTer3) c.1047_1048del (p.Ile349MetfsTer3) c.819_820del (p.Ile273MetfsTer3) | ClinVar |
| 7 | g.107917342C>A | CA457109447 | DLD | c.1116C>A (p.Ile372=) c.*790C>A (n.*790C>A) c.972C>A (p.Ile324=) c.1047C>A (p.Ile349=) c.819C>A (p.Ile273=) | ClinVar dbSNP |
| 7 | g.107917342C>G | CA368858241 | DLD | c.1116C>G (p.Ile372Met) c.*790C>G (n.*790C>G) c.972C>G (p.Ile324Met) c.1047C>G (p.Ile349Met) c.819C>G (p.Ile273Met) | |
| 7 | g.107917342C>T | CA457109448 | DLD | c.1116C>T (p.Ile372=) c.*790C>T (n.*790C>T) c.972C>T (p.Ile324=) c.1047C>T (p.Ile349=) c.819C>T (p.Ile273=) | gnomAD v4 |
| 7 | g.107917343T>A | CA368858242 | DLD | c.1117T>A (p.Cys373Ser) c.*791T>A (n.*791T>A) c.973T>A (p.Cys325Ser) c.1048T>A (p.Cys350Ser) c.820T>A (p.Cys274Ser) | gnomAD v4 |
| 7 | g.107917343T>C | CA368858243 | DLD | c.1117T>C (p.Cys373Arg) c.*791T>C (n.*791T>C) c.973T>C (p.Cys325Arg) c.1048T>C (p.Cys350Arg) c.820T>C (p.Cys274Arg) | |
| 7 | g.107917343T>G | CA368858244 | DLD | c.1117T>G (p.Cys373Gly) c.*791T>G (n.*791T>G) c.973T>G (p.Cys325Gly) c.1048T>G (p.Cys350Gly) c.820T>G (p.Cys274Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.107917343T= | CA1732860036 | DLD | c.1117T= (p.Cys373=) c.*791T= (n.*791T=) c.973T= (p.Cys325=) c.1048T= (p.Cys350=) c.820T= (p.Cys274=) | |
| 7 | g.107917344G>A | CA368858246 | DLD | c.1118G>A (p.Cys373Tyr) c.*792G>A (n.*792G>A) c.974G>A (p.Cys325Tyr) c.1049G>A (p.Cys350Tyr) c.821G>A (p.Cys274Tyr) | dbSNP gnomAD v4 |
| 7 | g.107917344G>C | CA368858247 | DLD | c.1118G>C (p.Cys373Ser) c.*792G>C (n.*792G>C) c.974G>C (p.Cys325Ser) c.1049G>C (p.Cys350Ser) c.821G>C (p.Cys274Ser) | gnomAD v4 |
| 7 | g.107917344G= | CA1732860037 | DLD | c.1118G= (p.Cys373=) c.*792G= (n.*792G=) c.974G= (p.Cys325=) c.1049G= (p.Cys350=) c.821G= (p.Cys274=) | |
| 7 | g.107917344G>T | CA368858250 | DLD | c.1118G>T (p.Cys373Phe) c.*792G>T (n.*792G>T) c.974G>T (p.Cys325Phe) c.1049G>T (p.Cys350Phe) c.821G>T (p.Cys274Phe) | gnomAD v4 |
| 7 | g.107917345T>A | CA368858253 | DLD | c.1119T>A (p.Cys373Ter) c.*793T>A (n.*793T>A) c.975T>A (p.Cys325Ter) c.1050T>A (p.Cys350Ter) c.822T>A (p.Cys274Ter) | ClinVar dbSNP |
| 7 | g.107917345T>C | CA457109450 | DLD | c.1119T>C (p.Cys373=) c.*793T>C (n.*793T>C) c.975T>C (p.Cys325=) c.1050T>C (p.Cys350=) c.822T>C (p.Cys274=) | |
| 7 | g.107917345T>G | CA368858254 | DLD | c.1119T>G (p.Cys373Trp) c.*793T>G (n.*793T>G) c.975T>G (p.Cys325Trp) c.1050T>G (p.Cys350Trp) c.822T>G (p.Cys274Trp) | |
| 7 | g.107917345T= | CA1732860038 | DLD | c.1119T= (p.Cys373=) c.*793T= (n.*793T=) c.975T= (p.Cys325=) c.1050T= (p.Cys350=) c.822T= (p.Cys274=) | |
| 7 | g.107917346G>A | CA368858258 | DLD | c.1120G>A (p.Val374Ile) c.*794G>A (n.*794G>A) c.976G>A (p.Val326Ile) c.1051G>A (p.Val351Ile) c.823G>A (p.Val275Ile) | |
| 7 | g.107917346G>C | CA368858257 | DLD | c.1120G>C (p.Val374Leu) c.*794G>C (n.*794G>C) c.976G>C (p.Val326Leu) c.1051G>C (p.Val351Leu) c.823G>C (p.Val275Leu) | |
| 7 | g.107917346G>T | CA368858256 | DLD | c.1120G>T (p.Val374Phe) c.*794G>T (n.*794G>T) c.976G>T (p.Val326Phe) c.1051G>T (p.Val351Phe) c.823G>T (p.Val275Phe) | |
| 7 | g.107917347T>A | CA368858260 | DLD | c.1121T>A (p.Val374Asp) c.*795T>A (n.*795T>A) c.977T>A (p.Val326Asp) c.1052T>A (p.Val351Asp) c.824T>A (p.Val275Asp) | |
| 7 | g.107917347T>C | CA368858263 | DLD | c.1121T>C (p.Val374Ala) c.*795T>C (n.*795T>C) c.977T>C (p.Val326Ala) c.1052T>C (p.Val351Ala) c.824T>C (p.Val275Ala) | dbSNP |
| 7 | g.107917347T>G | CA368858262 | DLD | c.1121T>G (p.Val374Gly) c.*795T>G (n.*795T>G) c.977T>G (p.Val326Gly) c.1052T>G (p.Val351Gly) c.824T>G (p.Val275Gly) | |
| 7 | g.107917347T= | CA1732860039 | DLD | c.1121T= (p.Val374=) c.*795T= (n.*795T=) c.977T= (p.Val326=) c.1052T= (p.Val351=) c.824T= (p.Val275=) | |
| 7 | g.107917348T>A | CA457109456 | DLD | c.1122T>A (p.Val374=) c.*796T>A (n.*796T>A) c.978T>A (p.Val326=) c.1053T>A (p.Val351=) c.825T>A (p.Val275=) | |
| 7 | g.107917348T>C | CA457109459 | DLD | c.1122T>C (p.Val374=) c.*796T>C (n.*796T>C) c.978T>C (p.Val326=) c.1053T>C (p.Val351=) c.825T>C (p.Val275=) | |
| 7 | g.107917348T>G | CA457109461 | DLD | c.1122T>G (p.Val374=) c.*796T>G (n.*796T>G) c.978T>G (p.Val326=) c.1053T>G (p.Val351=) c.825T>G (p.Val275=) | |
| 7 | g.107917349G>A | CA256137 | DLD | c.1123G>A (p.Glu375Lys) c.*797G>A (n.*797G>A) c.979G>A (p.Glu327Lys) c.1054G>A (p.Glu352Lys) c.826G>A (p.Glu276Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107917349G>C | CA368858265 | DLD | c.1123G>C (p.Glu375Gln) c.*797G>C (n.*797G>C) c.979G>C (p.Glu327Gln) c.1054G>C (p.Glu352Gln) c.826G>C (p.Glu276Gln) | |
| 7 | g.107917349G= | CA1732860040 | DLD | c.1123G= (p.Glu375=) c.*797G= (n.*797G=) c.979G= (p.Glu327=) c.1054G= (p.Glu352=) c.826G= (p.Glu276=) | |
| 7 | g.107917349G>T | CA368858267 | DLD | c.1123G>T (p.Glu375Ter) c.*797G>T (n.*797G>T) c.979G>T (p.Glu327Ter) c.1054G>T (p.Glu352Ter) c.826G>T (p.Glu276Ter) | |
| 7 | g.107917350A>C | CA368858269 | DLD | c.1124A>C (p.Glu375Ala) c.*798A>C (n.*798A>C) c.980A>C (p.Glu327Ala) c.1055A>C (p.Glu352Ala) c.827A>C (p.Glu276Ala) | |
| 7 | g.107917350A>G | CA368858270 | DLD | c.1124A>G (p.Glu375Gly) c.*798A>G (n.*798A>G) c.980A>G (p.Glu327Gly) c.1055A>G (p.Glu352Gly) c.827A>G (p.Glu276Gly) | |
| 7 | g.107917350A>T | CA368858272 | DLD | c.1124A>T (p.Glu375Val) c.*798A>T (n.*798A>T) c.980A>T (p.Glu327Val) c.1055A>T (p.Glu352Val) c.827A>T (p.Glu276Val) | |
| 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) |