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.107918971del | CA1732860704 | DLD | c.1375-39del (n.1375-39del) c.*1049-39del (n.*1049-39del) c.1231-39del (n.1231-39del) c.1306-39del (n.1306-39del) c.1078-39del (n.1078-39del) | dbSNP |
| 7 | g.107918973C>T | CA2684460427 | DLD | c.1375-37C>T (n.1375-37C>T) c.*1049-37C>T (n.*1049-37C>T) c.1231-37C>T (n.1231-37C>T) c.1306-37C>T (n.1306-37C>T) c.1078-37C>T (n.1078-37C>T) | gnomAD v4 |
| 7 | g.107918974C= | CA1732860705 | DLD | c.1375-36C= (n.1375-36C=) c.*1049-36C= (n.*1049-36C=) c.1231-36C= (n.1231-36C=) c.1306-36C= (n.1306-36C=) c.1078-36C= (n.1078-36C=) | |
| 7 | g.107918974C>T | CA4434696 | DLD | c.1375-36C>T (n.1375-36C>T) c.*1049-36C>T (n.*1049-36C>T) c.1231-36C>T (n.1231-36C>T) c.1306-36C>T (n.1306-36C>T) c.1078-36C>T (n.1078-36C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107918977G>T | CA2684460429 | DLD | c.1375-33G>T (n.1375-33G>T) c.*1049-33G>T (n.*1049-33G>T) c.1231-33G>T (n.1231-33G>T) c.1306-33G>T (n.1306-33G>T) c.1078-33G>T (n.1078-33G>T) | gnomAD v4 |
| 7 | g.107918981G>A | CA577039337 | DLD | c.1375-29G>A (n.1375-29G>A) c.*1049-29G>A (n.*1049-29G>A) c.1231-29G>A (n.1231-29G>A) c.1306-29G>A (n.1306-29G>A) c.1078-29G>A (n.1078-29G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.107918981G= | CA1732860706 | DLD | c.1375-29G= (n.1375-29G=) c.*1049-29G= (n.*1049-29G=) c.1231-29G= (n.1231-29G=) c.1306-29G= (n.1306-29G=) c.1078-29G= (n.1078-29G=) | |
| 7 | g.107918984A>G | CA2578990243 | DLD | c.1375-26A>G (n.1375-26A>G) c.*1049-26A>G (n.*1049-26A>G) c.1231-26A>G (n.1231-26A>G) c.1306-26A>G (n.1306-26A>G) c.1078-26A>G (n.1078-26A>G) | |
| 7 | g.107918989A= | CA1732860707 | DLD | c.1375-21A= (n.1375-21A=) c.*1049-21A= (n.*1049-21A=) c.1231-21A= (n.1231-21A=) c.1306-21A= (n.1306-21A=) c.1078-21A= (n.1078-21A=) | |
| 7 | g.107918989A>T | CA4434697 | DLD | c.1375-21A>T (n.1375-21A>T) c.*1049-21A>T (n.*1049-21A>T) c.1231-21A>T (n.1231-21A>T) c.1306-21A>T (n.1306-21A>T) c.1078-21A>T (n.1078-21A>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107918990C>T | CA2684460433 | DLD | c.1375-20C>T (n.1375-20C>T) c.*1049-20C>T (n.*1049-20C>T) c.1231-20C>T (n.1231-20C>T) c.1306-20C>T (n.1306-20C>T) c.1078-20C>T (n.1078-20C>T) | gnomAD v4 |
| 7 | g.107918991T>C | CA4434698 | DLD | c.1375-19T>C (n.1375-19T>C) c.*1049-19T>C (n.*1049-19T>C) c.1231-19T>C (n.1231-19T>C) c.1306-19T>C (n.1306-19T>C) c.1078-19T>C (n.1078-19T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.107918991T= | CA1732860708 | DLD | c.1375-19T= (n.1375-19T=) c.*1049-19T= (n.*1049-19T=) c.1231-19T= (n.1231-19T=) c.1306-19T= (n.1306-19T=) c.1078-19T= (n.1078-19T=) | |
| 7 | g.107918993G>T | CA2684460452 | DLD | c.1375-17G>T (n.1375-17G>T) c.*1049-17G>T (n.*1049-17G>T) c.1231-17G>T (n.1231-17G>T) c.1306-17G>T (n.1306-17G>T) c.1078-17G>T (n.1078-17G>T) | ClinVar gnomAD v4 |
| 7 | g.107918994G>A | CA2777357389 | DLD | c.1375-16G>A (n.1375-16G>A) c.*1049-16G>A (n.*1049-16G>A) c.1231-16G>A (n.1231-16G>A) c.1306-16G>A (n.1306-16G>A) c.1078-16G>A (n.1078-16G>A) | |
| 7 | g.107918995C>G | CA2684460457 | DLD | c.1375-15C>G (n.1375-15C>G) c.*1049-15C>G (n.*1049-15C>G) c.1231-15C>G (n.1231-15C>G) c.1306-15C>G (n.1306-15C>G) c.1078-15C>G (n.1078-15C>G) | gnomAD v4 |
| 7 | g.107918998G>A | CA1732860710 | DLD | c.1375-12G>A (n.1375-12G>A) c.*1049-12G>A (n.*1049-12G>A) c.1231-12G>A (n.1231-12G>A) c.1306-12G>A (n.1306-12G>A) c.1078-12G>A (n.1078-12G>A) | dbSNP gnomAD v4 |
| 7 | g.107918998G= | CA1732860709 | DLD | c.1375-12G= (n.1375-12G=) c.*1049-12G= (n.*1049-12G=) c.1231-12G= (n.1231-12G=) c.1306-12G= (n.1306-12G=) c.1078-12G= (n.1078-12G=) | |
| 7 | g.107919000_107919008del | CA2684460460 | DLD | c.1375-10_1375-2del (n.1375-10_1375-2del) c.*1049-10_*1049-2del (n.*1049-10_*1049-2del) c.1231-10_1231-2del (n.1231-10_1231-2del) c.1306-10_1306-2del (n.1306-10_1306-2del) c.1078-10_1078-2del (n.1078-10_1078-2del) | gnomAD v4 |
| 7 | g.107919001A>G | CA2684460466 | DLD | c.1375-9A>G (n.1375-9A>G) c.*1049-9A>G (n.*1049-9A>G) c.1231-9A>G (n.1231-9A>G) c.1306-9A>G (n.1306-9A>G) c.1078-9A>G (n.1078-9A>G) | gnomAD v4 |
| 7 | g.107919001A>T | CA2777357390 | DLD | c.1375-9A>T (n.1375-9A>T) c.*1049-9A>T (n.*1049-9A>T) c.1231-9A>T (n.1231-9A>T) c.1306-9A>T (n.1306-9A>T) c.1078-9A>T (n.1078-9A>T) | |
| 7 | g.107919004_107919005del | CA2684460471 | DLD | c.1375-6_1375-5del (n.1375-6_1375-5del) c.*1049-6_*1049-5del (n.*1049-6_*1049-5del) c.1231-6_1231-5del (n.1231-6_1231-5del) c.1306-6_1306-5del (n.1306-6_1306-5del) c.1078-6_1078-5del (n.1078-6_1078-5del) | gnomAD v4 |
| 7 | g.107919003T>C | CA1732860712 | DLD | c.1375-7T>C (n.1375-7T>C) c.*1049-7T>C (n.*1049-7T>C) c.1231-7T>C (n.1231-7T>C) c.1306-7T>C (n.1306-7T>C) c.1078-7T>C (n.1078-7T>C) | dbSNP |
| 7 | g.107919003T= | CA1732860711 | DLD | c.1375-7T= (n.1375-7T=) c.*1049-7T= (n.*1049-7T=) c.1231-7T= (n.1231-7T=) c.1306-7T= (n.1306-7T=) c.1078-7T= (n.1078-7T=) | |
| 7 | g.107919004T>C | CA2684460474 | DLD | c.1375-6T>C (n.1375-6T>C) c.*1049-6T>C (n.*1049-6T>C) c.1231-6T>C (n.1231-6T>C) c.1306-6T>C (n.1306-6T>C) c.1078-6T>C (n.1078-6T>C) | gnomAD v4 |
| 7 | g.107919004T>G | CA2684460477 | DLD | c.1375-6T>G (n.1375-6T>G) c.*1049-6T>G (n.*1049-6T>G) c.1231-6T>G (n.1231-6T>G) c.1306-6T>G (n.1306-6T>G) c.1078-6T>G (n.1078-6T>G) | gnomAD v4 |
| 7 | g.107919008A>C | CA368859367 | DLD | c.1375-2A>C (n.1375-2A>C) c.*1049-2A>C (n.*1049-2A>C) c.1231-2A>C (n.1231-2A>C) c.1306-2A>C (n.1306-2A>C) c.1078-2A>C (n.1078-2A>C) | |
| 7 | g.107919008A>G | CA368859368 | DLD | c.1375-2A>G (n.1375-2A>G) c.*1049-2A>G (n.*1049-2A>G) c.1231-2A>G (n.1231-2A>G) c.1306-2A>G (n.1306-2A>G) c.1078-2A>G (n.1078-2A>G) | |
| 7 | g.107919008A>T | CA368859369 | DLD | c.1375-2A>T (n.1375-2A>T) c.*1049-2A>T (n.*1049-2A>T) c.1231-2A>T (n.1231-2A>T) c.1306-2A>T (n.1306-2A>T) c.1078-2A>T (n.1078-2A>T) | |
| 7 | g.107919009G>A | CA368859370 | DLD | c.1375-1G>A (n.1375-1G>A) c.*1049-1G>A (n.*1049-1G>A) c.1231-1G>A (n.1231-1G>A) c.1306-1G>A (n.1306-1G>A) c.1078-1G>A (n.1078-1G>A) | |
| 7 | g.107919009G>C | CA368859371 | DLD | c.1375-1G>C (n.1375-1G>C) c.*1049-1G>C (n.*1049-1G>C) c.1231-1G>C (n.1231-1G>C) c.1306-1G>C (n.1306-1G>C) c.1078-1G>C (n.1078-1G>C) | |
| 7 | g.107919009G>T | CA368859372 | DLD | c.1375-1G>T (n.1375-1G>T) c.*1049-1G>T (n.*1049-1G>T) c.1231-1G>T (n.1231-1G>T) c.1306-1G>T (n.1306-1G>T) c.1078-1G>T (n.1078-1G>T) | |
| 7 | g.107919010G>A | CA368859373 | DLD | c.1375G>A (p.Gly459Ser) c.*1049G>A (n.*1049G>A) c.1231G>A (p.Gly411Ser) c.1306G>A (p.Gly436Ser) c.1078G>A (p.Gly360Ser) | |
| 7 | g.107919010G>C | CA368859375 | DLD | c.1375G>C (p.Gly459Arg) c.*1049G>C (n.*1049G>C) c.1231G>C (p.Gly411Arg) c.1306G>C (p.Gly436Arg) c.1078G>C (p.Gly360Arg) | |
| 7 | g.107919010G>T | CA368859374 | DLD | c.1375G>T (p.Gly459Cys) c.*1049G>T (n.*1049G>T) c.1231G>T (p.Gly411Cys) c.1306G>T (p.Gly436Cys) c.1078G>T (p.Gly360Cys) | |
| 7 | g.107919011G>A | CA368859376 | DLD | c.1376G>A (p.Gly459Asp) c.*1050G>A (n.*1050G>A) c.1232G>A (p.Gly411Asp) c.1307G>A (p.Gly436Asp) c.1079G>A (p.Gly360Asp) | |
| 7 | g.107919011G>C | CA368859377 | DLD | c.1376G>C (p.Gly459Ala) c.*1050G>C (n.*1050G>C) c.1232G>C (p.Gly411Ala) c.1307G>C (p.Gly436Ala) c.1079G>C (p.Gly360Ala) | |
| 7 | g.107919011G= | CA1732860713 | DLD | c.1376G= (p.Gly459=) c.*1050G= (n.*1050G=) c.1232G= (p.Gly411=) c.1307G= (p.Gly436=) c.1079G= (p.Gly360=) | |
| 7 | g.107919011G>T | CA368859378 | DLD | c.1376G>T (p.Gly459Val) c.*1050G>T (n.*1050G>T) c.1232G>T (p.Gly411Val) c.1307G>T (p.Gly436Val) c.1079G>T (p.Gly360Val) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.107919012T>A | CA457109775 | DLD | c.1377T>A (p.Gly459=) c.*1051T>A (n.*1051T>A) c.1233T>A (p.Gly411=) c.1308T>A (p.Gly436=) c.1080T>A (p.Gly360=) | ClinVar dbSNP gnomAD v4 |
| 7 | g.107919012T>C | CA457109776 | DLD | c.1377T>C (p.Gly459=) c.*1051T>C (n.*1051T>C) c.1233T>C (p.Gly411=) c.1308T>C (p.Gly436=) c.1080T>C (p.Gly360=) | |
| 7 | g.107919012T>G | CA457109777 | DLD | c.1377T>G (p.Gly459=) c.*1051T>G (n.*1051T>G) c.1233T>G (p.Gly411=) c.1308T>G (p.Gly436=) c.1080T>G (p.Gly360=) | |
| 7 | g.107919012T= | CA1732860714 | DLD | c.1377T= (p.Gly459=) c.*1051T= (n.*1051T=) c.1233T= (p.Gly411=) c.1308T= (p.Gly436=) c.1080T= (p.Gly360=) | |
| 7 | g.107919013G>A | CA368859379 | DLD | c.1378G>A (p.Ala460Thr) c.*1052G>A (n.*1052G>A) c.1234G>A (p.Ala412Thr) c.1309G>A (p.Ala437Thr) c.1081G>A (p.Ala361Thr) | |
| 7 | g.107919013G>C | CA368859380 | DLD | c.1378G>C (p.Ala460Pro) c.*1052G>C (n.*1052G>C) c.1234G>C (p.Ala412Pro) c.1309G>C (p.Ala437Pro) c.1081G>C (p.Ala361Pro) | |
| 7 | g.107919013G>T | CA368859381 | DLD | c.1378G>T (p.Ala460Ser) c.*1052G>T (n.*1052G>T) c.1234G>T (p.Ala412Ser) c.1309G>T (p.Ala437Ser) c.1081G>T (p.Ala361Ser) | |
| 7 | g.107919014C>A | CA368859382 | DLD | c.1379C>A (p.Ala460Asp) c.*1053C>A (n.*1053C>A) c.1235C>A (p.Ala412Asp) c.1310C>A (p.Ala437Asp) c.1082C>A (p.Ala361Asp) | |
| 7 | g.107919014C>G | CA368859383 | DLD | c.1379C>G (p.Ala460Gly) c.*1053C>G (n.*1053C>G) c.1235C>G (p.Ala412Gly) c.1310C>G (p.Ala437Gly) c.1082C>G (p.Ala361Gly) | |
| 7 | g.107919014C>T | CA368859384 | DLD | c.1379C>T (p.Ala460Val) c.*1053C>T (n.*1053C>T) c.1235C>T (p.Ala412Val) c.1310C>T (p.Ala437Val) c.1082C>T (p.Ala361Val) | |
| 7 | g.107919015T>A | CA457109780 | DLD | c.1380T>A (p.Ala460=) c.*1054T>A (n.*1054T>A) c.1236T>A (p.Ala412=) c.1311T>A (p.Ala437=) c.1083T>A (p.Ala361=) | |
| 7 | g.107919015T>C | CA457109779 | DLD | c.1380T>C (p.Ala460=) c.*1054T>C (n.*1054T>C) c.1236T>C (p.Ala412=) c.1311T>C (p.Ala437=) c.1083T>C (p.Ala361=) | gnomAD v4 |
| 7 | g.107919015T>G | CA457109778 | DLD | c.1380T>G (p.Ala460=) c.*1054T>G (n.*1054T>G) c.1236T>G (p.Ala412=) c.1311T>G (p.Ala437=) c.1083T>G (p.Ala361=) | |
| 7 | g.107919016G>A | CA368859385 | DLD | c.1381G>A (p.Gly461Arg) c.*1055G>A (n.*1055G>A) c.1237G>A (p.Gly413Arg) c.1312G>A (p.Gly438Arg) c.1084G>A (p.Gly362Arg) | gnomAD v4 |
| 7 | g.107919016G>C | CA368859386 | DLD | c.1381G>C (p.Gly461Arg) c.*1055G>C (n.*1055G>C) c.1237G>C (p.Gly413Arg) c.1312G>C (p.Gly438Arg) c.1084G>C (p.Gly362Arg) | |
| 7 | g.107919016G>T | CA368859387 | DLD | c.1381G>T (p.Gly461Ter) c.*1055G>T (n.*1055G>T) c.1237G>T (p.Gly413Ter) c.1312G>T (p.Gly438Ter) c.1084G>T (p.Gly362Ter) | |
| 7 | g.107919017G>A | CA312474 | DLD | c.1382G>A (p.Gly461Glu) c.*1056G>A (n.*1056G>A) c.1238G>A (p.Gly413Glu) c.1313G>A (p.Gly438Glu) c.1085G>A (p.Gly362Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107919017G>C | CA368859388 | DLD | c.1382G>C (p.Gly461Ala) c.*1056G>C (n.*1056G>C) c.1238G>C (p.Gly413Ala) c.1313G>C (p.Gly438Ala) c.1085G>C (p.Gly362Ala) | dbSNP |
| 7 | g.107919017G= | CA1732860715 | DLD | c.1382G= (p.Gly461=) c.*1056G= (n.*1056G=) c.1238G= (p.Gly413=) c.1313G= (p.Gly438=) c.1085G= (p.Gly362=) | |
| 7 | g.107919017G>T | CA368859389 | DLD | c.1382G>T (p.Gly461Val) c.*1056G>T (n.*1056G>T) c.1238G>T (p.Gly413Val) c.1313G>T (p.Gly438Val) c.1085G>T (p.Gly362Val) | |
| 7 | g.107919018A>C | CA457109781 | DLD | c.1383A>C (p.Gly461=) c.*1057A>C (n.*1057A>C) c.1239A>C (p.Gly413=) c.1314A>C (p.Gly438=) c.1086A>C (p.Gly362=) | |
| 7 | g.107919018A>G | CA457109782 | DLD | c.1383A>G (p.Gly461=) c.*1057A>G (n.*1057A>G) c.1239A>G (p.Gly413=) c.1314A>G (p.Gly438=) c.1086A>G (p.Gly362=) | |
| 7 | g.107919018A>T | CA457109783 | DLD | c.1383A>T (p.Gly461=) c.*1057A>T (n.*1057A>T) c.1239A>T (p.Gly413=) c.1314A>T (p.Gly438=) c.1086A>T (p.Gly362=) | |
| 7 | g.107919019G>A | CA4434699 | DLD | c.1384G>A (p.Glu462Lys) c.*1058G>A (n.*1058G>A) c.1240G>A (p.Glu414Lys) c.1315G>A (p.Glu439Lys) c.1087G>A (p.Glu363Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.107919019G>C | CA368859390 | DLD | c.1384G>C (p.Glu462Gln) c.*1058G>C (n.*1058G>C) c.1240G>C (p.Glu414Gln) c.1315G>C (p.Glu439Gln) c.1087G>C (p.Glu363Gln) | |
| 7 | g.107919019G= | CA1732860716 | DLD | c.1384G= (p.Glu462=) c.*1058G= (n.*1058G=) c.1240G= (p.Glu414=) c.1315G= (p.Glu439=) c.1087G= (p.Glu363=) | |
| 7 | g.107919019G>T | CA368859391 | DLD | c.1384G>T (p.Glu462Ter) c.*1058G>T (n.*1058G>T) c.1240G>T (p.Glu414Ter) c.1315G>T (p.Glu439Ter) c.1087G>T (p.Glu363Ter) | |
| 7 | g.107919020A>C | CA368859392 | DLD | c.1385A>C (p.Glu462Ala) c.*1059A>C (n.*1059A>C) c.1241A>C (p.Glu414Ala) c.1316A>C (p.Glu439Ala) c.1088A>C (p.Glu363Ala) | |
| 7 | g.107919020A>G | CA368859393 | DLD | c.1385A>G (p.Glu462Gly) c.*1059A>G (n.*1059A>G) c.1241A>G (p.Glu414Gly) c.1316A>G (p.Glu439Gly) c.1088A>G (p.Glu363Gly) | |
| 7 | g.107919020A>T | CA368859394 | DLD | c.1385A>T (p.Glu462Val) c.*1059A>T (n.*1059A>T) c.1241A>T (p.Glu414Val) c.1316A>T (p.Glu439Val) c.1088A>T (p.Glu363Val) | |
| 7 | g.107919021A>C | CA368859396 | DLD | c.1386A>C (p.Glu462Asp) c.*1060A>C (n.*1060A>C) c.1242A>C (p.Glu414Asp) c.1317A>C (p.Glu439Asp) c.1089A>C (p.Glu363Asp) | |
| 7 | g.107919021A>G | CA457109784 | DLD | c.1386A>G (p.Glu462=) c.*1060A>G (n.*1060A>G) c.1242A>G (p.Glu414=) c.1317A>G (p.Glu439=) c.1089A>G (p.Glu363=) | |
| 7 | g.107919021A>T | CA368859395 | DLD | c.1386A>T (p.Glu462Asp) c.*1060A>T (n.*1060A>T) c.1242A>T (p.Glu414Asp) c.1317A>T (p.Glu439Asp) c.1089A>T (p.Glu363Asp) | |
| 7 | g.107919022A>C | CA368859397 | DLD | c.1387A>C (p.Met463Leu) c.*1061A>C (n.*1061A>C) c.1243A>C (p.Met415Leu) c.1318A>C (p.Met440Leu) c.1090A>C (p.Met364Leu) | |
| 7 | g.107919022A>G | CA368859398 | DLD | c.1387A>G (p.Met463Val) c.*1061A>G (n.*1061A>G) c.1243A>G (p.Met415Val) c.1318A>G (p.Met440Val) c.1090A>G (p.Met364Val) | gnomAD v4 |
| 7 | g.107919022A>T | CA368859399 | DLD | c.1387A>T (p.Met463Leu) c.*1061A>T (n.*1061A>T) c.1243A>T (p.Met415Leu) c.1318A>T (p.Met440Leu) c.1090A>T (p.Met364Leu) | |
| 7 | g.107919023T>A | CA368859400 | DLD | c.1388T>A (p.Met463Lys) c.*1062T>A (n.*1062T>A) c.1244T>A (p.Met415Lys) c.1319T>A (p.Met440Lys) c.1091T>A (p.Met364Lys) | dbSNP |
| 7 | g.107919023T>C | CA368859401 | DLD | c.1388T>C (p.Met463Thr) c.*1062T>C (n.*1062T>C) c.1244T>C (p.Met415Thr) c.1319T>C (p.Met440Thr) c.1091T>C (p.Met364Thr) | |
| 7 | g.107919023T>G | CA368859402 | DLD | c.1388T>G (p.Met463Arg) c.*1062T>G (n.*1062T>G) c.1244T>G (p.Met415Arg) c.1319T>G (p.Met440Arg) c.1091T>G (p.Met364Arg) | |
| 7 | g.107919023T= | CA1732860717 | DLD | c.1388T= (p.Met463=) c.*1062T= (n.*1062T=) c.1244T= (p.Met415=) c.1319T= (p.Met440=) c.1091T= (p.Met364=) | |
| 7 | g.107919024G>A | CA368859405 | DLD | c.1389G>A (p.Met463Ile) c.*1063G>A (n.*1063G>A) c.1245G>A (p.Met415Ile) c.1320G>A (p.Met440Ile) c.1092G>A (p.Met364Ile) | |
| 7 | g.107919024G>C | CA368859403 | DLD | c.1389G>C (p.Met463Ile) c.*1063G>C (n.*1063G>C) c.1245G>C (p.Met415Ile) c.1320G>C (p.Met440Ile) c.1092G>C (p.Met364Ile) | |
| 7 | g.107919024G>T | CA368859404 | DLD | c.1389G>T (p.Met463Ile) c.*1063G>T (n.*1063G>T) c.1245G>T (p.Met415Ile) c.1320G>T (p.Met440Ile) c.1092G>T (p.Met364Ile) | |
| 7 | g.107919025G>A | CA368859406 | DLD | c.1390G>A (p.Val464Ile) c.*1064G>A (n.*1064G>A) c.1246G>A (p.Val416Ile) c.1321G>A (p.Val441Ile) c.1093G>A (p.Val365Ile) | gnomAD v4 |
| 7 | g.107919025G>C | CA368859407 | DLD | c.1390G>C (p.Val464Leu) c.*1064G>C (n.*1064G>C) c.1246G>C (p.Val416Leu) c.1321G>C (p.Val441Leu) c.1093G>C (p.Val365Leu) | |
| 7 | g.107919025G>T | CA368859408 | DLD | c.1390G>T (p.Val464Leu) c.*1064G>T (n.*1064G>T) c.1246G>T (p.Val416Leu) c.1321G>T (p.Val441Leu) c.1093G>T (p.Val365Leu) | |
| 7 | g.107919026T>A | CA368859409 | DLD | c.1391T>A (p.Val464Glu) c.*1065T>A (n.*1065T>A) c.1247T>A (p.Val416Glu) c.1322T>A (p.Val441Glu) c.1094T>A (p.Val365Glu) | |
| 7 | g.107919026T>C | CA368859410 | DLD | c.1391T>C (p.Val464Ala) c.*1065T>C (n.*1065T>C) c.1247T>C (p.Val416Ala) c.1322T>C (p.Val441Ala) c.1094T>C (p.Val365Ala) | |
| 7 | g.107919026T>G | CA368859411 | DLD | c.1391T>G (p.Val464Gly) c.*1065T>G (n.*1065T>G) c.1247T>G (p.Val416Gly) c.1322T>G (p.Val441Gly) c.1094T>G (p.Val365Gly) | |
| 7 | g.107919027A= | CA1732860718 | DLD | c.1392A= (p.Val464=) c.*1066A= (n.*1066A=) c.1248A= (p.Val416=) c.1323A= (p.Val441=) c.1095A= (p.Val365=) | |
| 7 | g.107919027A>C | CA457109785 | DLD | c.1392A>C (p.Val464=) c.*1066A>C (n.*1066A>C) c.1248A>C (p.Val416=) c.1323A>C (p.Val441=) c.1095A>C (p.Val365=) | |
| 7 | g.107919027A>G | CA457109786 | DLD | c.1392A>G (p.Val464=) c.*1066A>G (n.*1066A>G) c.1248A>G (p.Val416=) c.1323A>G (p.Val441=) c.1095A>G (p.Val365=) | |
| 7 | g.107919027A>T | CA457109787 | DLD | c.1392A>T (p.Val464=) c.*1066A>T (n.*1066A>T) c.1248A>T (p.Val416=) c.1323A>T (p.Val441=) c.1095A>T (p.Val365=) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.107919028A= | CA1732860719 | DLD | c.1393A= (p.Asn465=) c.*1067A= (n.*1067A=) c.1249A= (p.Asn417=) c.1324A= (p.Asn442=) c.1096A= (p.Asn366=) | |
| 7 | g.107919028A>C | CA368859412 | DLD | c.1393A>C (p.Asn465His) c.*1067A>C (n.*1067A>C) c.1249A>C (p.Asn417His) c.1324A>C (p.Asn442His) c.1096A>C (p.Asn366His) | |
| 7 | g.107919028A>G | CA368859413 | DLD | c.1393A>G (p.Asn465Asp) c.*1067A>G (n.*1067A>G) c.1249A>G (p.Asn417Asp) c.1324A>G (p.Asn442Asp) c.1096A>G (p.Asn366Asp) | dbSNP |
| 7 | g.107919028A>T | CA368859414 | DLD | c.1393A>T (p.Asn465Tyr) c.*1067A>T (n.*1067A>T) c.1249A>T (p.Asn417Tyr) c.1324A>T (p.Asn442Tyr) c.1096A>T (p.Asn366Tyr) | |
| 7 | g.107919029A>C | CA368859415 | DLD | c.1394A>C (p.Asn465Thr) c.*1068A>C (n.*1068A>C) c.1250A>C (p.Asn417Thr) c.1325A>C (p.Asn442Thr) c.1097A>C (p.Asn366Thr) | |
| 7 | g.107919029A>G | CA368859416 | DLD | c.1394A>G (p.Asn465Ser) c.*1068A>G (n.*1068A>G) c.1250A>G (p.Asn417Ser) c.1325A>G (p.Asn442Ser) c.1097A>G (p.Asn366Ser) | |
| 7 | g.107919029A>T | CA368859417 | DLD | c.1394A>T (p.Asn465Ile) c.*1068A>T (n.*1068A>T) c.1250A>T (p.Asn417Ile) c.1325A>T (p.Asn442Ile) c.1097A>T (p.Asn366Ile) | |
| 7 | g.107919030T>A | CA368859418 | DLD | c.1395T>A (p.Asn465Lys) c.*1069T>A (n.*1069T>A) c.1251T>A (p.Asn417Lys) c.1326T>A (p.Asn442Lys) c.1098T>A (p.Asn366Lys) | |
| 7 | g.107919030T>C | CA4434700 | DLD | c.1395T>C (p.Asn465=) c.*1069T>C (n.*1069T>C) c.1251T>C (p.Asn417=) c.1326T>C (p.Asn442=) c.1098T>C (p.Asn366=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107919030T>G | CA368859419 | DLD | c.1395T>G (p.Asn465Lys) c.*1069T>G (n.*1069T>G) c.1251T>G (p.Asn417Lys) c.1326T>G (p.Asn442Lys) c.1098T>G (p.Asn366Lys) | |
| 7 | g.107919030T= | CA1732860720 | DLD | c.1395T= (p.Asn465=) c.*1069T= (n.*1069T=) c.1251T= (p.Asn417=) c.1326T= (p.Asn442=) c.1098T= (p.Asn366=) | |
| 7 | g.107919031G>A | CA368859420 | DLD | c.1396G>A (p.Glu466Lys) c.*1070G>A (n.*1070G>A) c.1252G>A (p.Glu418Lys) c.1327G>A (p.Glu443Lys) c.1099G>A (p.Glu367Lys) | |
| 7 | g.107919031G>C | CA368859421 | DLD | c.1396G>C (p.Glu466Gln) c.*1070G>C (n.*1070G>C) c.1252G>C (p.Glu418Gln) c.1327G>C (p.Glu443Gln) c.1099G>C (p.Glu367Gln) | |
| 7 | g.107919031G>T | CA368859422 | DLD | c.1396G>T (p.Glu466Ter) c.*1070G>T (n.*1070G>T) c.1252G>T (p.Glu418Ter) c.1327G>T (p.Glu443Ter) c.1099G>T (p.Glu367Ter) | ClinVar dbSNP gnomAD v4 |
| 7 | g.107919032A>C | CA368859423 | DLD | c.1397A>C (p.Glu466Ala) c.*1071A>C (n.*1071A>C) c.1253A>C (p.Glu418Ala) c.1328A>C (p.Glu443Ala) c.1100A>C (p.Glu367Ala) | |
| 7 | g.107919032A>G | CA368859424 | DLD | c.1397A>G (p.Glu466Gly) c.*1071A>G (n.*1071A>G) c.1253A>G (p.Glu418Gly) c.1328A>G (p.Glu443Gly) c.1100A>G (p.Glu367Gly) | |
| 7 | g.107919032A>T | CA368859425 | DLD | c.1397A>T (p.Glu466Val) c.*1071A>T (n.*1071A>T) c.1253A>T (p.Glu418Val) c.1328A>T (p.Glu443Val) c.1100A>T (p.Glu367Val) | |
| 7 | g.107919033A>C | CA368859427 | DLD | c.1398A>C (p.Glu466Asp) c.*1072A>C (n.*1072A>C) c.1254A>C (p.Glu418Asp) c.1329A>C (p.Glu443Asp) c.1101A>C (p.Glu367Asp) | |
| 7 | g.107919033A>G | CA457109788 | DLD | c.1398A>G (p.Glu466=) c.*1072A>G (n.*1072A>G) c.1254A>G (p.Glu418=) c.1329A>G (p.Glu443=) c.1101A>G (p.Glu367=) | |
| 7 | g.107919033A>T | CA368859426 | DLD | c.1398A>T (p.Glu466Asp) c.*1072A>T (n.*1072A>T) c.1254A>T (p.Glu418Asp) c.1329A>T (p.Glu443Asp) c.1101A>T (p.Glu367Asp) | |
| 7 | g.107919034G>A | CA368859428 | DLD | c.1399G>A (p.Ala467Thr) c.*1073G>A (n.*1073G>A) c.1255G>A (p.Ala419Thr) c.1330G>A (p.Ala444Thr) c.1102G>A (p.Ala368Thr) | |
| 7 | g.107919034G>C | CA368859429 | DLD | c.1399G>C (p.Ala467Pro) c.*1073G>C (n.*1073G>C) c.1255G>C (p.Ala419Pro) c.1330G>C (p.Ala444Pro) c.1102G>C (p.Ala368Pro) | gnomAD v4 |
| 7 | g.107919034G>T | CA368859430 | DLD | c.1399G>T (p.Ala467Ser) c.*1073G>T (n.*1073G>T) c.1255G>T (p.Ala419Ser) c.1330G>T (p.Ala444Ser) c.1102G>T (p.Ala368Ser) | |
| 7 | g.107919035C>A | CA368859431 | DLD | c.1400C>A (p.Ala467Asp) c.*1074C>A (n.*1074C>A) c.1256C>A (p.Ala419Asp) c.1331C>A (p.Ala444Asp) c.1103C>A (p.Ala368Asp) | |
| 7 | g.107919035C>G | CA368859432 | DLD | c.1400C>G (p.Ala467Gly) c.*1074C>G (n.*1074C>G) c.1256C>G (p.Ala419Gly) c.1331C>G (p.Ala444Gly) c.1103C>G (p.Ala368Gly) | |
| 7 | g.107919035C>T | CA368859433 | DLD | c.1400C>T (p.Ala467Val) c.*1074C>T (n.*1074C>T) c.1256C>T (p.Ala419Val) c.1331C>T (p.Ala444Val) c.1103C>T (p.Ala368Val) | |
| 7 | g.107919036T>A | CA457109791 | DLD | c.1401T>A (p.Ala467=) c.*1075T>A (n.*1075T>A) c.1257T>A (p.Ala419=) c.1332T>A (p.Ala444=) c.1104T>A (p.Ala368=) | |
| 7 | g.107919036T>C | CA457109790 | DLD | c.1401T>C (p.Ala467=) c.*1075T>C (n.*1075T>C) c.1257T>C (p.Ala419=) c.1332T>C (p.Ala444=) c.1104T>C (p.Ala368=) | |
| 7 | g.107919036T>G | CA457109789 | DLD | c.1401T>G (p.Ala467=) c.*1075T>G (n.*1075T>G) c.1257T>G (p.Ala419=) c.1332T>G (p.Ala444=) c.1104T>G (p.Ala368=) | |
| 7 | g.107919037G>A | CA368859436 | DLD | c.1402G>A (p.Ala468Thr) c.*1076G>A (n.*1076G>A) c.1258G>A (p.Ala420Thr) c.1333G>A (p.Ala445Thr) c.1105G>A (p.Ala369Thr) | |
| 7 | g.107919037G>C | CA368859434 | DLD | c.1402G>C (p.Ala468Pro) c.*1076G>C (n.*1076G>C) c.1258G>C (p.Ala420Pro) c.1333G>C (p.Ala445Pro) c.1105G>C (p.Ala369Pro) | |
| 7 | g.107919037G>T | CA368859435 | DLD | c.1402G>T (p.Ala468Ser) c.*1076G>T (n.*1076G>T) c.1258G>T (p.Ala420Ser) c.1333G>T (p.Ala445Ser) c.1105G>T (p.Ala369Ser) | |
| 7 | g.107919038C>A | CA368859437 | DLD | c.1403C>A (p.Ala468Asp) c.*1077C>A (n.*1077C>A) c.1259C>A (p.Ala420Asp) c.1334C>A (p.Ala445Asp) c.1106C>A (p.Ala369Asp) | |
| 7 | g.107919038C= | CA1732860721 | DLD | c.1403C= (p.Ala468=) c.*1077C= (n.*1077C=) c.1259C= (p.Ala420=) c.1334C= (p.Ala445=) c.1106C= (p.Ala369=) | |
| 7 | g.107919038C>G | CA4434701 | DLD | c.1403C>G (p.Ala468Gly) c.*1077C>G (n.*1077C>G) c.1259C>G (p.Ala420Gly) c.1334C>G (p.Ala445Gly) c.1106C>G (p.Ala369Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.107919038C>T | CA368859438 | DLD | c.1403C>T (p.Ala468Val) c.*1077C>T (n.*1077C>T) c.1259C>T (p.Ala420Val) c.1334C>T (p.Ala445Val) c.1106C>T (p.Ala369Val) | |
| 7 | g.107919039T>A | CA457109792 | DLD | c.1404T>A (p.Ala468=) c.*1078T>A (n.*1078T>A) c.1260T>A (p.Ala420=) c.1335T>A (p.Ala445=) c.1107T>A (p.Ala369=) | |
| 7 | g.107919039T>C | CA457109793 | DLD | c.1404T>C (p.Ala468=) c.*1078T>C (n.*1078T>C) c.1260T>C (p.Ala420=) c.1335T>C (p.Ala445=) c.1107T>C (p.Ala369=) | dbSNP gnomAD v4 |
| 7 | g.107919039T>G | CA457109794 | DLD | c.1404T>G (p.Ala468=) c.*1078T>G (n.*1078T>G) c.1260T>G (p.Ala420=) c.1335T>G (p.Ala445=) c.1107T>G (p.Ala369=) | |
| 7 | g.107919039T= | CA1732860722 | DLD | c.1404T= (p.Ala468=) c.*1078T= (n.*1078T=) c.1260T= (p.Ala420=) c.1335T= (p.Ala445=) c.1107T= (p.Ala369=) | |
| 7 | g.107919040C>A | CA368859439 | DLD | c.1405C>A (p.Leu469Ile) c.*1079C>A (n.*1079C>A) c.1261C>A (p.Leu421Ile) c.1336C>A (p.Leu446Ile) c.1108C>A (p.Leu370Ile) | |
| 7 | g.107919040C>G | CA368859440 | DLD | c.1405C>G (p.Leu469Val) c.*1079C>G (n.*1079C>G) c.1261C>G (p.Leu421Val) c.1336C>G (p.Leu446Val) c.1108C>G (p.Leu370Val) | |
| 7 | g.107919040C>T | CA368859441 | DLD | c.1405C>T (p.Leu469Phe) c.*1079C>T (n.*1079C>T) c.1261C>T (p.Leu421Phe) c.1336C>T (p.Leu446Phe) c.1108C>T (p.Leu370Phe) | |
| 7 | g.107919041T>A | CA368859442 | DLD | c.1406T>A (p.Leu469His) c.*1080T>A (n.*1080T>A) c.1262T>A (p.Leu421His) c.1337T>A (p.Leu446His) c.1109T>A (p.Leu370His) | |
| 7 | g.107919041T>C | CA368859443 | DLD | c.1406T>C (p.Leu469Pro) c.*1080T>C (n.*1080T>C) c.1262T>C (p.Leu421Pro) c.1337T>C (p.Leu446Pro) c.1109T>C (p.Leu370Pro) | |
| 7 | g.107919041T>G | CA368859444 | DLD | c.1406T>G (p.Leu469Arg) c.*1080T>G (n.*1080T>G) c.1262T>G (p.Leu421Arg) c.1337T>G (p.Leu446Arg) c.1109T>G (p.Leu370Arg) | |
| 7 | g.107919042T>A | CA457109795 | DLD | c.1407T>A (p.Leu469=) c.*1081T>A (n.*1081T>A) c.1263T>A (p.Leu421=) c.1338T>A (p.Leu446=) c.1110T>A (p.Leu370=) | |
| 7 | g.107919042T>C | CA457109797 | DLD | c.1407T>C (p.Leu469=) c.*1081T>C (n.*1081T>C) c.1263T>C (p.Leu421=) c.1338T>C (p.Leu446=) c.1110T>C (p.Leu370=) | |
| 7 | g.107919042T>G | CA457109796 | DLD | c.1407T>G (p.Leu469=) c.*1081T>G (n.*1081T>G) c.1263T>G (p.Leu421=) c.1338T>G (p.Leu446=) c.1110T>G (p.Leu370=) | |
| 7 | g.107919043G>A | CA4434702 | DLD | c.1408G>A (p.Ala470Thr) c.*1082G>A (n.*1082G>A) c.1264G>A (p.Ala422Thr) c.1339G>A (p.Ala447Thr) c.1111G>A (p.Ala371Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.107919043G>C | CA368859445 | DLD | c.1408G>C (p.Ala470Pro) c.*1082G>C (n.*1082G>C) c.1264G>C (p.Ala422Pro) c.1339G>C (p.Ala447Pro) c.1111G>C (p.Ala371Pro) | |
| 7 | g.107919043G= | CA1732860723 | DLD | c.1408G= (p.Ala470=) c.*1082G= (n.*1082G=) c.1264G= (p.Ala422=) c.1339G= (p.Ala447=) c.1111G= (p.Ala371=) | |
| 7 | g.107919043G>T | CA368859446 | DLD | c.1408G>T (p.Ala470Ser) c.*1082G>T (n.*1082G>T) c.1264G>T (p.Ala422Ser) c.1339G>T (p.Ala447Ser) c.1111G>T (p.Ala371Ser) | |
| 7 | g.107919044C>A | CA368859447 | DLD | c.1409C>A (p.Ala470Asp) c.*1083C>A (n.*1083C>A) c.1265C>A (p.Ala422Asp) c.1340C>A (p.Ala447Asp) c.1112C>A (p.Ala371Asp) | |
| 7 | g.107919044C= | CA1732860724 | DLD | c.1409C= (p.Ala470=) c.*1083C= (n.*1083C=) c.1265C= (p.Ala422=) c.1340C= (p.Ala447=) c.1112C= (p.Ala371=) | |
| 7 | g.107919044C>G | CA368859449 | DLD | c.1409C>G (p.Ala470Gly) c.*1083C>G (n.*1083C>G) c.1265C>G (p.Ala422Gly) c.1340C>G (p.Ala447Gly) c.1112C>G (p.Ala371Gly) | dbSNP gnomAD v4 |
| 7 | g.107919044C>T | CA368859448 | DLD | c.1409C>T (p.Ala470Val) c.*1083C>T (n.*1083C>T) c.1265C>T (p.Ala422Val) c.1340C>T (p.Ala447Val) c.1112C>T (p.Ala371Val) | gnomAD v4 |
| 7 | g.107919045T>A | CA457109798 | DLD | c.1410T>A (p.Ala470=) c.*1084T>A (n.*1084T>A) c.1266T>A (p.Ala422=) c.1341T>A (p.Ala447=) c.1113T>A (p.Ala371=) | |
| 7 | g.107919045T>C | CA457109799 | DLD | c.1410T>C (p.Ala470=) c.*1084T>C (n.*1084T>C) c.1266T>C (p.Ala422=) c.1341T>C (p.Ala447=) c.1113T>C (p.Ala371=) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.107919045T>G | CA457109800 | DLD | c.1410T>G (p.Ala470=) c.*1084T>G (n.*1084T>G) c.1266T>G (p.Ala422=) c.1341T>G (p.Ala447=) c.1113T>G (p.Ala371=) | |
| 7 | g.107919045T= | CA1732860725 | DLD | c.1410T= (p.Ala470=) c.*1084T= (n.*1084T=) c.1266T= (p.Ala422=) c.1341T= (p.Ala447=) c.1113T= (p.Ala371=) | |
| 7 | g.107919046T>A | CA368859450 | DLD | c.1411T>A (p.Leu471Met) c.*1085T>A (n.*1085T>A) c.1267T>A (p.Leu423Met) c.1342T>A (p.Leu448Met) c.1114T>A (p.Leu372Met) | |
| 7 | g.107919046T>C | CA457109801 | DLD | c.1411T>C (p.Leu471=) c.*1085T>C (n.*1085T>C) c.1267T>C (p.Leu423=) c.1342T>C (p.Leu448=) c.1114T>C (p.Leu372=) | dbSNP |
| 7 | g.107919046T>G | CA368859451 | DLD | c.1411T>G (p.Leu471Val) c.*1085T>G (n.*1085T>G) c.1267T>G (p.Leu423Val) c.1342T>G (p.Leu448Val) c.1114T>G (p.Leu372Val) | |
| 7 | g.107919046_107919053delinsTTGGAATA | CA1732860726 | DLD | c.1411_1418delinsTTGGAATA (p.Leu471=) c.*1085_*1092delinsTTGGAATA (n.*1085_*1092delinsTTGGAATA) c.1267_1274delinsTTGGAATA (p.Leu423=) c.1342_1349delinsTTGGAATA (p.Leu448=) c.1114_1121delinsTTGGAATA (p.Leu372=) | |
| 7 | g.107919047T>A | CA368859452 | DLD | c.1412T>A (p.Leu471Ter) c.*1086T>A (n.*1086T>A) c.1268T>A (p.Leu423Ter) c.1343T>A (p.Leu448Ter) c.1115T>A (p.Leu372Ter) | |
| 7 | g.107919047T>C | CA368859453 | DLD | c.1412T>C (p.Leu471Ser) c.*1086T>C (n.*1086T>C) c.1268T>C (p.Leu423Ser) c.1343T>C (p.Leu448Ser) c.1115T>C (p.Leu372Ser) | |
| 7 | g.107919047T>G | CA368859454 | DLD | c.1412T>G (p.Leu471Trp) c.*1086T>G (n.*1086T>G) c.1268T>G (p.Leu423Trp) c.1343T>G (p.Leu448Trp) c.1115T>G (p.Leu372Trp) | gnomAD v4 |
| 7 | g.107919051_107919057del | CA831210899 | DLD | c.1416_1422del (p.Tyr473HisfsTer6) c.*1090_*1096del (n.*1090_*1096del) c.1272_1278del (p.Tyr425HisfsTer6) c.1347_1353del (p.Tyr450HisfsTer6) c.1119_1125del (p.Tyr374HisfsTer6) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.107919048G>A | CA457109802 | DLD | c.1413G>A (p.Leu471=) c.*1087G>A (n.*1087G>A) c.1269G>A (p.Leu423=) c.1344G>A (p.Leu448=) c.1116G>A (p.Leu372=) | gnomAD v4 COSMIC COSMIC |
| 7 | g.107919048G>C | CA368859455 | DLD | c.1413G>C (p.Leu471Phe) c.*1087G>C (n.*1087G>C) c.1269G>C (p.Leu423Phe) c.1344G>C (p.Leu448Phe) c.1116G>C (p.Leu372Phe) | |
| 7 | g.107919048G>T | CA368859456 | DLD | c.1413G>T (p.Leu471Phe) c.*1087G>T (n.*1087G>T) c.1269G>T (p.Leu423Phe) c.1344G>T (p.Leu448Phe) c.1116G>T (p.Leu372Phe) | |
| 7 | g.107919049G>A | CA368859457 | DLD | c.1414G>A (p.Glu472Lys) c.*1088G>A (n.*1088G>A) c.1270G>A (p.Glu424Lys) c.1345G>A (p.Glu449Lys) c.1117G>A (p.Glu373Lys) | |
| 7 | g.107919049G>C | CA368859458 | DLD | c.1414G>C (p.Glu472Gln) c.*1088G>C (n.*1088G>C) c.1270G>C (p.Glu424Gln) c.1345G>C (p.Glu449Gln) c.1117G>C (p.Glu373Gln) | |
| 7 | g.107919049G>T | CA368859459 | DLD | c.1414G>T (p.Glu472Ter) c.*1088G>T (n.*1088G>T) c.1270G>T (p.Glu424Ter) c.1345G>T (p.Glu449Ter) c.1117G>T (p.Glu373Ter) | |
| 7 | g.107919050A>C | CA368859460 | DLD | c.1415A>C (p.Glu472Ala) c.*1089A>C (n.*1089A>C) c.1271A>C (p.Glu424Ala) c.1346A>C (p.Glu449Ala) c.1118A>C (p.Glu373Ala) | |
| 7 | g.107919050A>G | CA368859461 | DLD | c.1415A>G (p.Glu472Gly) c.*1089A>G (n.*1089A>G) c.1271A>G (p.Glu424Gly) c.1346A>G (p.Glu449Gly) c.1118A>G (p.Glu373Gly) | |
| 7 | g.107919050A>T | CA368859462 | DLD | c.1415A>T (p.Glu472Val) c.*1089A>T (n.*1089A>T) c.1271A>T (p.Glu424Val) c.1346A>T (p.Glu449Val) c.1118A>T (p.Glu373Val) | |
| 7 | g.107919051A>C | CA368859463 | DLD | c.1416A>C (p.Glu472Asp) c.*1090A>C (n.*1090A>C) c.1272A>C (p.Glu424Asp) c.1347A>C (p.Glu449Asp) c.1119A>C (p.Glu373Asp) | |
| 7 | g.107919051A>G | CA457109803 | DLD | c.1416A>G (p.Glu472=) c.*1090A>G (n.*1090A>G) c.1272A>G (p.Glu424=) c.1347A>G (p.Glu449=) c.1119A>G (p.Glu373=) | ClinVar |
| 7 | g.107919051A>T | CA368859464 | DLD | c.1416A>T (p.Glu472Asp) c.*1090A>T (n.*1090A>T) c.1272A>T (p.Glu424Asp) c.1347A>T (p.Glu449Asp) c.1119A>T (p.Glu373Asp) | |
| 7 | g.107919052T>A | CA368859465 | DLD | c.1417T>A (p.Tyr473Asn) c.*1091T>A (n.*1091T>A) c.1273T>A (p.Tyr425Asn) c.1348T>A (p.Tyr450Asn) c.1120T>A (p.Tyr374Asn) | |
| 7 | g.107919052T>C | CA368859466 | DLD | c.1417T>C (p.Tyr473His) c.*1091T>C (n.*1091T>C) c.1273T>C (p.Tyr425His) c.1348T>C (p.Tyr450His) c.1120T>C (p.Tyr374His) | |
| 7 | g.107919052T>G | CA4434703 | DLD | c.1417T>G (p.Tyr473Asp) c.*1091T>G (n.*1091T>G) c.1273T>G (p.Tyr425Asp) c.1348T>G (p.Tyr450Asp) c.1120T>G (p.Tyr374Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.107919052T= | CA1732860727 | DLD | c.1417T= (p.Tyr473=) c.*1091T= (n.*1091T=) c.1273T= (p.Tyr425=) c.1348T= (p.Tyr450=) c.1120T= (p.Tyr374=) | |
| 7 | g.107919053A= | CA1732860728 | DLD | c.1418A= (p.Tyr473=) c.*1092A= (n.*1092A=) c.1274A= (p.Tyr425=) c.1349A= (p.Tyr450=) c.1121A= (p.Tyr374=) | |
| 7 | g.107919053A>C | CA368859467 | DLD | c.1418A>C (p.Tyr473Ser) c.*1092A>C (n.*1092A>C) c.1274A>C (p.Tyr425Ser) c.1349A>C (p.Tyr450Ser) c.1121A>C (p.Tyr374Ser) | |
| 7 | g.107919053A>G | CA368859468 | DLD | c.1418A>G (p.Tyr473Cys) c.*1092A>G (n.*1092A>G) c.1274A>G (p.Tyr425Cys) c.1349A>G (p.Tyr450Cys) c.1121A>G (p.Tyr374Cys) | dbSNP gnomAD v4 |
| 7 | g.107919053A>T | CA368859469 | DLD | c.1418A>T (p.Tyr473Phe) c.*1092A>T (n.*1092A>T) c.1274A>T (p.Tyr425Phe) c.1349A>T (p.Tyr450Phe) c.1121A>T (p.Tyr374Phe) | |
| 7 | g.107919054T>A | CA368859470 | DLD | c.1419T>A (p.Tyr473Ter) c.*1093T>A (n.*1093T>A) c.1275T>A (p.Tyr425Ter) c.1350T>A (p.Tyr450Ter) c.1122T>A (p.Tyr374Ter) | |
| 7 | g.107919054T>C | CA457109804 | DLD | c.1419T>C (p.Tyr473=) c.*1093T>C (n.*1093T>C) c.1275T>C (p.Tyr425=) c.1350T>C (p.Tyr450=) c.1122T>C (p.Tyr374=) | gnomAD v4 |
| 7 | g.107919054T>G | CA368859471 | DLD | c.1419T>G (p.Tyr473Ter) c.*1093T>G (n.*1093T>G) c.1275T>G (p.Tyr425Ter) c.1350T>G (p.Tyr450Ter) c.1122T>G (p.Tyr374Ter) | dbSNP |
| 7 | g.107919054T= | CA1732860730 | DLD | c.1419T= (p.Tyr473=) c.*1093T= (n.*1093T=) c.1275T= (p.Tyr425=) c.1350T= (p.Tyr450=) c.1122T= (p.Tyr374=) | |
| 7 | g.107919054_107919055del | CA913111802 | DLD | c.1419_1420del (p.Tyr473Ter) c.*1093_*1094del (n.*1093_*1094del) c.1275_1276del (p.Tyr425Ter) c.1350_1351del (p.Tyr450Ter) c.1122_1123del (p.Tyr374Ter) | |
| 7 | g.107919054_107919055delinsTG | CA1732860729 | DLD | c.1419_1420delinsTG (p.Tyr473=) c.*1093_*1094delinsTG (n.*1093_*1094delinsTG) c.1275_1276delinsTG (p.Tyr425=) c.1350_1351delinsTG (p.Tyr450=) c.1122_1123delinsTG (p.Tyr374=) | |
| 7 | g.107919055G>A | CA368859472 | DLD | c.1420G>A (p.Gly474Arg) c.*1094G>A (n.*1094G>A) c.1276G>A (p.Gly426Arg) c.1351G>A (p.Gly451Arg) c.1123G>A (p.Gly375Arg) | |
| 7 | g.107919055G>C | CA368859473 | DLD | c.1420G>C (p.Gly474Arg) c.*1094G>C (n.*1094G>C) c.1276G>C (p.Gly426Arg) c.1351G>C (p.Gly451Arg) c.1123G>C (p.Gly375Arg) | |
| 7 | g.107919055G>T | CA368859474 | DLD | c.1420G>T (p.Gly474Ter) c.*1094G>T (n.*1094G>T) c.1276G>T (p.Gly426Ter) c.1351G>T (p.Gly451Ter) c.1123G>T (p.Gly375Ter) | |
| 7 | g.107919056del | CA658821776 | DLD | c.1421del (p.Gly474GlufsTer7) c.*1095del (n.*1095del) c.1277del (p.Gly426GlufsTer7) c.1352del (p.Gly451GlufsTer7) c.1124del (p.Gly375GlufsTer7) | ClinVar dbSNP |
| 7 | g.107919056G>A | CA368859477 | DLD | c.1421G>A (p.Gly474Glu) c.*1095G>A (n.*1095G>A) c.1277G>A (p.Gly426Glu) c.1352G>A (p.Gly451Glu) c.1124G>A (p.Gly375Glu) | |
| 7 | g.107919056G>C | CA368859476 | DLD | c.1421G>C (p.Gly474Ala) c.*1095G>C (n.*1095G>C) c.1277G>C (p.Gly426Ala) c.1352G>C (p.Gly451Ala) c.1124G>C (p.Gly375Ala) | |
| 7 | g.107919056G>T | CA368859475 | DLD | c.1421G>T (p.Gly474Val) c.*1095G>T (n.*1095G>T) c.1277G>T (p.Gly426Val) c.1352G>T (p.Gly451Val) c.1124G>T (p.Gly375Val) | |
| 7 | g.107919057A= | CA1732860731 | DLD | c.1422A= (p.Gly474=) c.*1096A= (n.*1096A=) c.1278A= (p.Gly426=) c.1353A= (p.Gly451=) c.1125A= (p.Gly375=) | |
| 7 | g.107919057A>C | CA290613 | DLD | c.1422A>C (p.Gly474=) c.*1096A>C (n.*1096A>C) c.1278A>C (p.Gly426=) c.1353A>C (p.Gly451=) c.1125A>C (p.Gly375=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107919057A>G | CA457109805 | DLD | c.1422A>G (p.Gly474=) c.*1096A>G (n.*1096A>G) c.1278A>G (p.Gly426=) c.1353A>G (p.Gly451=) c.1125A>G (p.Gly375=) | ClinVar |
| 7 | g.107919057A>T | CA457109806 | DLD | c.1422A>T (p.Gly474=) c.*1096A>T (n.*1096A>T) c.1278A>T (p.Gly426=) c.1353A>T (p.Gly451=) c.1125A>T (p.Gly375=) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.107919058G>A | CA368859480 | DLD | c.1423G>A (p.Ala475Thr) c.*1097G>A (n.*1097G>A) c.1279G>A (p.Ala427Thr) c.1354G>A (p.Ala452Thr) c.1126G>A (p.Ala376Thr) | COSMIC COSMIC |
| 7 | g.107919058G>C | CA368859478 | DLD | c.1423G>C (p.Ala475Pro) c.*1097G>C (n.*1097G>C) c.1279G>C (p.Ala427Pro) c.1354G>C (p.Ala452Pro) c.1126G>C (p.Ala376Pro) | |
| 7 | g.107919058G>T | CA368859479 | DLD | c.1423G>T (p.Ala475Ser) c.*1097G>T (n.*1097G>T) c.1279G>T (p.Ala427Ser) c.1354G>T (p.Ala452Ser) c.1126G>T (p.Ala376Ser) | |
| 7 | g.107919059C>A | CA368859481 | DLD | c.1424C>A (p.Ala475Glu) c.*1098C>A (n.*1098C>A) c.1280C>A (p.Ala427Glu) c.1355C>A (p.Ala452Glu) c.1127C>A (p.Ala376Glu) | |
| 7 | g.107919059C= | CA1732860732 | DLD | c.1424C= (p.Ala475=) c.*1098C= (n.*1098C=) c.1280C= (p.Ala427=) c.1355C= (p.Ala452=) c.1127C= (p.Ala376=) | |
| 7 | g.107919059C>G | CA368859482 | DLD | c.1424C>G (p.Ala475Gly) c.*1098C>G (n.*1098C>G) c.1280C>G (p.Ala427Gly) c.1355C>G (p.Ala452Gly) c.1127C>G (p.Ala376Gly) | |
| 7 | g.107919059C>T | CA368859483 | DLD | c.1424C>T (p.Ala475Val) c.*1098C>T (n.*1098C>T) c.1280C>T (p.Ala427Val) c.1355C>T (p.Ala452Val) c.1127C>T (p.Ala376Val) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.107919060A= | CA1732860733 | DLD | c.1425A= (p.Ala475=) c.*1099A= (n.*1099A=) c.1281A= (p.Ala427=) c.1356A= (p.Ala452=) c.1128A= (p.Ala376=) | |
| 7 | g.107919060A>C | CA457109810 | DLD | c.1425A>C (p.Ala475=) c.*1099A>C (n.*1099A>C) c.1281A>C (p.Ala427=) c.1356A>C (p.Ala452=) c.1128A>C (p.Ala376=) | |
| 7 | g.107919060A>G | CA457109808 | DLD | c.1425A>G (p.Ala475=) c.*1099A>G (n.*1099A>G) c.1281A>G (p.Ala427=) c.1356A>G (p.Ala452=) c.1128A>G (p.Ala376=) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.107919060A>T | CA457109807 | DLD | c.1425A>T (p.Ala475=) c.*1099A>T (n.*1099A>T) c.1281A>T (p.Ala427=) c.1356A>T (p.Ala452=) c.1128A>T (p.Ala376=) | |
| 7 | g.107919061T>A | CA368859486 | DLD | c.1426T>A (p.Ser476Thr) c.*1100T>A (n.*1100T>A) c.1282T>A (p.Ser428Thr) c.1357T>A (p.Ser453Thr) c.1129T>A (p.Ser377Thr) | |
| 7 | g.107919061T>C | CA368859485 | DLD | c.1426T>C (p.Ser476Pro) c.*1100T>C (n.*1100T>C) c.1282T>C (p.Ser428Pro) c.1357T>C (p.Ser453Pro) c.1129T>C (p.Ser377Pro) | |
| 7 | g.107919061T>G | CA368859484 | DLD | c.1426T>G (p.Ser476Ala) c.*1100T>G (n.*1100T>G) c.1282T>G (p.Ser428Ala) c.1357T>G (p.Ser453Ala) c.1129T>G (p.Ser377Ala) | |
| 7 | g.107919062C>A | CA4434705 | DLD | c.1427C>A (p.Ser476Tyr) c.*1101C>A (n.*1101C>A) c.1283C>A (p.Ser428Tyr) c.1358C>A (p.Ser453Tyr) c.1130C>A (p.Ser377Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.107919062C= | CA1732860734 | DLD | c.1427C= (p.Ser476=) c.*1101C= (n.*1101C=) c.1283C= (p.Ser428=) c.1358C= (p.Ser453=) c.1130C= (p.Ser377=) | |
| 7 | g.107919062C>G | CA4434704 | DLD | c.1427C>G (p.Ser476Cys) c.*1101C>G (n.*1101C>G) c.1283C>G (p.Ser428Cys) c.1358C>G (p.Ser453Cys) c.1130C>G (p.Ser377Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107919062C>T | CA368859487 | DLD | c.1427C>T (p.Ser476Phe) c.*1101C>T (n.*1101C>T) c.1283C>T (p.Ser428Phe) c.1358C>T (p.Ser453Phe) c.1130C>T (p.Ser377Phe) | |
| 7 | g.107919063C>A | CA457109811 | DLD | c.1428C>A (p.Ser476=) c.*1102C>A (n.*1102C>A) c.1284C>A (p.Ser428=) c.1359C>A (p.Ser453=) c.1131C>A (p.Ser377=) | |
| 7 | g.107919063C= | CA1732860736 | DLD | c.1428C= (p.Ser476=) c.*1102C= (n.*1102C=) c.1284C= (p.Ser428=) c.1359C= (p.Ser453=) c.1131C= (p.Ser377=) | |
| 7 | g.107919063C>G | CA457109812 | DLD | c.1428C>G (p.Ser476=) c.*1102C>G (n.*1102C>G) c.1284C>G (p.Ser428=) c.1359C>G (p.Ser453=) c.1131C>G (p.Ser377=) | |
| 7 | g.107919063C>T | CA457109813 | DLD | c.1428C>T (p.Ser476=) c.*1102C>T (n.*1102C>T) c.1284C>T (p.Ser428=) c.1359C>T (p.Ser453=) c.1131C>T (p.Ser377=) | ClinVar dbSNP |
| 7 | g.107919063_107919067del | CA913111803 | DLD | c.1428_1432del (p.Cys477ArgfsTer4) c.*1102_*1106del (n.*1102_*1106del) c.1284_1288del (p.Cys429ArgfsTer4) c.1359_1363del (p.Cys454ArgfsTer4) c.1131_1135del (p.Cys378ArgfsTer4) | |
| 7 | g.107919063_107919067delinsCTGTG | CA1732860735 | DLD | c.1428_1432delinsCTGTG (p.Ser476=) c.*1102_*1106delinsCTGTG (n.*1102_*1106delinsCTGTG) c.1284_1288delinsCTGTG (p.Ser428=) c.1359_1363delinsCTGTG (p.Ser453=) c.1131_1135delinsCTGTG (p.Ser377=) | |
| 7 | g.107919064T>A | CA368859488 | DLD | c.1429T>A (p.Cys477Ser) c.*1103T>A (n.*1103T>A) c.1285T>A (p.Cys429Ser) c.1360T>A (p.Cys454Ser) c.1132T>A (p.Cys378Ser) | |
| 7 | g.107919064T>C | CA368859489 | DLD | c.1429T>C (p.Cys477Arg) c.*1103T>C (n.*1103T>C) c.1285T>C (p.Cys429Arg) c.1360T>C (p.Cys454Arg) c.1132T>C (p.Cys378Arg) | |
| 7 | g.107919064T>G | CA368859490 | DLD | c.1429T>G (p.Cys477Gly) c.*1103T>G (n.*1103T>G) c.1285T>G (p.Cys429Gly) c.1360T>G (p.Cys454Gly) c.1132T>G (p.Cys378Gly) | |
| 7 | g.107919064_107919067del | CA658821777 | DLD | c.1429_1432del (p.Cys477LysfsTer3) c.*1103_*1106del (n.*1103_*1106del) c.1285_1288del (p.Cys429LysfsTer3) c.1360_1363del (p.Cys454LysfsTer3) c.1132_1135del (p.Cys378LysfsTer3) | ClinVar dbSNP |
| 7 | g.107919066_107919067del | CA2559541351 | DLD | c.1431_1432del (p.Cys477Ter) c.*1105_*1106del (n.*1105_*1106del) c.1287_1288del (p.Cys429Ter) c.1362_1363del (p.Cys454Ter) c.1134_1135del (p.Cys378Ter) | |
| 7 | g.107919065G>A | CA368859493 | DLD | c.1430G>A (p.Cys477Tyr) c.*1104G>A (n.*1104G>A) c.1286G>A (p.Cys429Tyr) c.1361G>A (p.Cys454Tyr) c.1133G>A (p.Cys378Tyr) | dbSNP gnomAD v4 |
| 7 | g.107919065G>C | CA368859491 | DLD | c.1430G>C (p.Cys477Ser) c.*1104G>C (n.*1104G>C) c.1286G>C (p.Cys429Ser) c.1361G>C (p.Cys454Ser) c.1133G>C (p.Cys378Ser) | |
| 7 | g.107919065G= | CA1732860737 | DLD | c.1430G= (p.Cys477=) c.*1104G= (n.*1104G=) c.1286G= (p.Cys429=) c.1361G= (p.Cys454=) c.1133G= (p.Cys378=) | |
| 7 | g.107919065G>T | CA368859492 | DLD | c.1430G>T (p.Cys477Phe) c.*1104G>T (n.*1104G>T) c.1286G>T (p.Cys429Phe) c.1361G>T (p.Cys454Phe) c.1133G>T (p.Cys378Phe) | |
| 7 | g.107919066T>A | CA368859494 | DLD | c.1431T>A (p.Cys477Ter) c.*1105T>A (n.*1105T>A) c.1287T>A (p.Cys429Ter) c.1362T>A (p.Cys454Ter) c.1134T>A (p.Cys378Ter) | |
| 7 | g.107919066T>C | CA457109814 | DLD | c.1431T>C (p.Cys477=) c.*1105T>C (n.*1105T>C) c.1287T>C (p.Cys429=) c.1362T>C (p.Cys454=) c.1134T>C (p.Cys378=) | |
| 7 | g.107919066T>G | CA368859495 | DLD | c.1431T>G (p.Cys477Trp) c.*1105T>G (n.*1105T>G) c.1287T>G (p.Cys429Trp) c.1362T>G (p.Cys454Trp) c.1134T>G (p.Cys378Trp) | |
| 7 | g.107919067G>A | CA368859496 | DLD | c.1432G>A (p.Glu478Lys) c.*1106G>A (n.*1106G>A) c.1288G>A (p.Glu430Lys) c.1363G>A (p.Glu455Lys) c.1135G>A (p.Glu379Lys) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.107919067G>C | CA368859497 | DLD | c.1432G>C (p.Glu478Gln) c.*1106G>C (n.*1106G>C) c.1288G>C (p.Glu430Gln) c.1363G>C (p.Glu455Gln) c.1135G>C (p.Glu379Gln) | |
| 7 | g.107919067G= | CA1732860738 | DLD | c.1432G= (p.Glu478=) c.*1106G= (n.*1106G=) c.1288G= (p.Glu430=) c.1363G= (p.Glu455=) c.1135G= (p.Glu379=) | |
| 7 | g.107919067G>T | CA368859498 | DLD | c.1432G>T (p.Glu478Ter) c.*1106G>T (n.*1106G>T) c.1288G>T (p.Glu430Ter) c.1363G>T (p.Glu455Ter) c.1135G>T (p.Glu379Ter) | |
| 7 | g.107919068A= | CA1732860739 | DLD | c.1433A= (p.Glu478=) c.*1107A= (n.*1107A=) c.1289A= (p.Glu430=) c.1364A= (p.Glu455=) c.1136A= (p.Glu379=) | |
| 7 | g.107919068A>C | CA368859499 | DLD | c.1433A>C (p.Glu478Ala) c.*1107A>C (n.*1107A>C) c.1289A>C (p.Glu430Ala) c.1364A>C (p.Glu455Ala) c.1136A>C (p.Glu379Ala) | |
| 7 | g.107919068A>G | CA4434706 | DLD | c.1433A>G (p.Glu478Gly) c.*1107A>G (n.*1107A>G) c.1289A>G (p.Glu430Gly) c.1364A>G (p.Glu455Gly) c.1136A>G (p.Glu379Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107919068A>T | CA368859500 | DLD | c.1433A>T (p.Glu478Val) c.*1107A>T (n.*1107A>T) c.1289A>T (p.Glu430Val) c.1364A>T (p.Glu455Val) c.1136A>T (p.Glu379Val) | |
| 7 | g.107919069A>C | CA368859501 | DLD | c.1434A>C (p.Glu478Asp) c.*1108A>C (n.*1108A>C) c.1290A>C (p.Glu430Asp) c.1365A>C (p.Glu455Asp) c.1137A>C (p.Glu379Asp) | |
| 7 | g.107919069A>G | CA457109815 | DLD | c.1434A>G (p.Glu478=) c.*1108A>G (n.*1108A>G) c.1290A>G (p.Glu430=) c.1365A>G (p.Glu455=) c.1137A>G (p.Glu379=) | |
| 7 | g.107919069A>T | CA368859502 | DLD | c.1434A>T (p.Glu478Asp) c.*1108A>T (n.*1108A>T) c.1290A>T (p.Glu430Asp) c.1365A>T (p.Glu455Asp) c.1137A>T (p.Glu379Asp) | |
| 7 | g.107919070G>A | CA368859503 | DLD | c.1435G>A (p.Asp479Asn) c.*1109G>A (n.*1109G>A) c.1291G>A (p.Asp431Asn) c.1366G>A (p.Asp456Asn) c.1138G>A (p.Asp380Asn) | |
| 7 | g.107919070G>C | CA368859504 | DLD | c.1435G>C (p.Asp479His) c.*1109G>C (n.*1109G>C) c.1291G>C (p.Asp431His) c.1366G>C (p.Asp456His) c.1138G>C (p.Asp380His) | |
| 7 | g.107919070G>T | CA368859505 | DLD | c.1435G>T (p.Asp479Tyr) c.*1109G>T (n.*1109G>T) c.1291G>T (p.Asp431Tyr) c.1366G>T (p.Asp456Tyr) c.1138G>T (p.Asp380Tyr) | |
| 7 | g.107919071A= | CA1732860740 | DLD | c.1436A= (p.Asp479=) c.*1110A= (n.*1110A=) c.1292A= (p.Asp431=) c.1367A= (p.Asp456=) c.1139A= (p.Asp380=) | |
| 7 | g.107919071A>C | CA368859507 | DLD | c.1436A>C (p.Asp479Ala) c.*1110A>C (n.*1110A>C) c.1292A>C (p.Asp431Ala) c.1367A>C (p.Asp456Ala) c.1139A>C (p.Asp380Ala) | |
| 7 | g.107919071A>G | CA368859506 | DLD | c.1436A>G (p.Asp479Gly) c.*1110A>G (n.*1110A>G) c.1292A>G (p.Asp431Gly) c.1367A>G (p.Asp456Gly) c.1139A>G (p.Asp380Gly) | gnomAD v4 |
| 7 | g.107919071A>T | CA261256 | DLD | c.1436A>T (p.Asp479Val) c.*1110A>T (n.*1110A>T) c.1292A>T (p.Asp431Val) c.1367A>T (p.Asp456Val) c.1139A>T (p.Asp380Val) | ClinVar dbSNP |