| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.37042599_37047754del | CA330792 | MLH1 | c.1731+268_1896+71del c.1437+268_1602+71del c.1008+268_1173+71del c.1524+268_1689+71del c.708+268_873+71del c.657+268_822+71del c.1632+268_1797+71del c.1731+268_1732-763del (p.=) n.290+2305_291-2732del (p.=) n.182-7887_182-2732del (p.=) n.1706+268_1871+71del | ClinVar |
| 3 | g.37043098_37048294del | CA330793 | MLH1 | c.1731+767_1897-223del c.1437+767_1603-223del c.1008+767_1174-223del c.1731+767_1896+611del c.1524+767_1690-223del c.708+767_874-223del c.657+767_823-223del c.1731+767_1897-610del c.1632+767_1798-223del c.1731+767_1732-223del (p.=) n.290+2804_291-2192del (p.=) n.182-7388_182-2192del (p.=) n.1706+767_1871+611del | ClinVar |
| 3 | g.37044575_37048112del | CA658760401 | MLH1 | c.1731+2244_1897-405del c.1437+2244_1603-405del c.1008+2244_1174-405del c.1731+2244_1896+429del c.1524+2244_1690-405del c.708+2244_874-405del c.657+2244_823-405del c.1632+2244_1798-405del c.1731+2244_1732-405del (p.=) n.290+4281_291-2374del (p.=) n.182-5911_182-2374del (p.=) n.1706+2244_1871+429del | |
| 3 | g.37045276_37048087del | CA330794 | MLH1 | c.1732-2243_1896+404del c.1438-2243_1602+404del c.1009-2243_1173+404del c.1525-2243_1689+404del c.709-2243_873+404del c.658-2243_822+404del c.1633-2243_1797+404del c.1731+2945_1732-430del (p.=) n.290+4982_291-2399del (p.=) n.182-5210_182-2399del (p.=) n.1707-2243_1871+404del | ClinVar |
| 3 | g.37047420G>A | CA906725415 | MLH1 | c.1732-99G>A (p.=) c.1438-99G>A (p.=) c.1009-99G>A (p.=) c.1525-99G>A (p.=) c.709-99G>A (p.=) c.658-99G>A (p.=) c.1633-99G>A (p.=) c.1732-1097G>A (p.=) n.291-3066G>A (p.=) n.182-3066G>A (p.=) n.1707-99G>A n.500-99G>A | |
| 3 | g.37047420G>T | CA1046900188 | MLH1 | c.1732-99G>T (p.=) c.1438-99G>T (p.=) c.1009-99G>T (p.=) c.1525-99G>T (p.=) c.709-99G>T (p.=) c.658-99G>T (p.=) c.1633-99G>T (p.=) c.1732-1097G>T (p.=) n.291-3066G>T (p.=) n.182-3066G>T (p.=) n.1707-99G>T n.500-99G>T | |
| 3 | g.37047427A>C | CA72809853 | MLH1 | c.1732-92A>C (p.=) c.1438-92A>C (p.=) c.1009-92A>C (p.=) c.1525-92A>C (p.=) c.709-92A>C (p.=) c.658-92A>C (p.=) c.1633-92A>C (p.=) c.1732-1090A>C (p.=) n.291-3059A>C (p.=) n.182-3059A>C (p.=) n.1707-92A>C n.500-92A>C | dbSNP |
| 3 | g.37047431G>A | CA1046900190 | MLH1 | c.1732-88G>A (p.=) c.1438-88G>A (p.=) c.1009-88G>A (p.=) c.1525-88G>A (p.=) c.709-88G>A (p.=) c.658-88G>A (p.=) c.1633-88G>A (p.=) c.1732-1086G>A (p.=) n.291-3055G>A (p.=) n.182-3055G>A (p.=) n.1707-88G>A n.500-88G>A | |
| 3 | g.37047433C>T | CA906725420 | MLH1 | c.1732-86C>T (p.=) c.1438-86C>T (p.=) c.1009-86C>T (p.=) c.1525-86C>T (p.=) c.709-86C>T (p.=) c.658-86C>T (p.=) c.1633-86C>T (p.=) c.1732-1084C>T (p.=) n.291-3053C>T (p.=) n.182-3053C>T (p.=) n.1707-86C>T n.500-86C>T | |
| 3 | g.37047435T>A | CA72809854 | MLH1 | c.1732-84T>A (p.=) c.1438-84T>A (p.=) c.1009-84T>A (p.=) c.1525-84T>A (p.=) c.709-84T>A (p.=) c.658-84T>A (p.=) c.1633-84T>A (p.=) c.1732-1082T>A (p.=) n.291-3051T>A (p.=) n.182-3051T>A (p.=) n.1707-84T>A n.500-84T>A | dbSNP |
| 3 | g.37047436T>C | CA72809855 | MLH1 | c.1732-83T>C (p.=) c.1438-83T>C (p.=) c.1009-83T>C (p.=) c.1525-83T>C (p.=) c.709-83T>C (p.=) c.658-83T>C (p.=) c.1633-83T>C (p.=) c.1732-1081T>C (p.=) n.291-3050T>C (p.=) n.182-3050T>C (p.=) n.1707-83T>C n.500-83T>C | dbSNP |
| 3 | g.37047439G>T | CA906725424 | MLH1 | c.1732-80G>T (p.=) c.1438-80G>T (p.=) c.1009-80G>T (p.=) c.1525-80G>T (p.=) c.709-80G>T (p.=) c.658-80G>T (p.=) c.1633-80G>T (p.=) c.1732-1078G>T (p.=) n.291-3047G>T (p.=) n.182-3047G>T (p.=) n.1707-80G>T n.500-80G>T | |
| 3 | g.37047440A>T | CA72809857 | MLH1 | c.1732-79A>T (p.=) c.1438-79A>T (p.=) c.1009-79A>T (p.=) c.1525-79A>T (p.=) c.709-79A>T (p.=) c.658-79A>T (p.=) c.1633-79A>T (p.=) c.1732-1077A>T (p.=) n.291-3046A>T (p.=) n.182-3046A>T (p.=) n.1707-79A>T n.500-79A>T | dbSNP |
| 3 | g.37047442del | CA542613857 | MLH1 | c.1732-77del (p.=) c.1438-77del (p.=) c.1009-77del (p.=) c.1525-77del (p.=) c.709-77del (p.=) c.658-77del (p.=) c.1633-77del (p.=) c.1732-1075del (p.=) n.291-3044del (p.=) n.182-3044del (p.=) n.1707-77del n.500-77del | dbSNP gnomAD |
| 3 | g.37047443G>A | CA1046900200 | MLH1 | c.1732-76G>A (p.=) c.1438-76G>A (p.=) c.1009-76G>A (p.=) c.1525-76G>A (p.=) c.709-76G>A (p.=) c.658-76G>A (p.=) c.1633-76G>A (p.=) c.1732-1074G>A (p.=) n.291-3043G>A (p.=) n.182-3043G>A (p.=) n.1707-76G>A n.500-76G>A | |
| 3 | g.37047459T>C | CA72809861 | MLH1 | c.1732-60T>C (p.=) c.1438-60T>C (p.=) c.1009-60T>C (p.=) c.1525-60T>C (p.=) c.709-60T>C (p.=) c.658-60T>C (p.=) c.1633-60T>C (p.=) c.1732-1058T>C (p.=) n.291-3027T>C (p.=) n.182-3027T>C (p.=) n.1707-60T>C n.500-60T>C | dbSNP |
| 3 | g.37047462G>C | CA906725427 | MLH1 | c.1732-57G>C (p.=) c.1438-57G>C (p.=) c.1009-57G>C (p.=) c.1525-57G>C (p.=) c.709-57G>C (p.=) c.658-57G>C (p.=) c.1633-57G>C (p.=) c.1732-1055G>C (p.=) n.291-3024G>C (p.=) n.182-3024G>C (p.=) n.1707-57G>C n.500-57G>C | |
| 3 | g.37047464C>A | CA72809870 | MLH1 | c.1732-55C>A (p.=) c.1438-55C>A (p.=) c.1009-55C>A (p.=) c.1525-55C>A (p.=) c.709-55C>A (p.=) c.658-55C>A (p.=) c.1633-55C>A (p.=) c.1732-1053C>A (p.=) n.291-3022C>A (p.=) n.182-3022C>A (p.=) n.1707-55C>A n.500-55C>A | dbSNP gnomAD |
| 3 | g.37047469T>C | CA030630 | MLH1 | c.1732-50T>C (p.=) c.1438-50T>C (p.=) c.1009-50T>C (p.=) c.1525-50T>C (p.=) c.709-50T>C (p.=) c.658-50T>C (p.=) c.1633-50T>C (p.=) c.1732-1048T>C (p.=) n.291-3017T>C (p.=) n.182-3017T>C (p.=) n.1707-50T>C n.500-50T>C | dbSNP ExAC gnomAD |
| 3 | g.37047475T>C | CA030621 | MLH1 | c.1732-44T>C (p.=) c.1438-44T>C (p.=) c.1009-44T>C (p.=) c.1525-44T>C (p.=) c.709-44T>C (p.=) c.658-44T>C (p.=) c.1633-44T>C (p.=) c.1732-1042T>C (p.=) n.291-3011T>C (p.=) n.182-3011T>C (p.=) n.1707-44T>C n.500-44T>C | dbSNP ExAC gnomAD |
| 3 | g.37047476G>A | CA542613858 | MLH1 | c.1732-43G>A (p.=) c.1438-43G>A (p.=) c.1009-43G>A (p.=) c.1525-43G>A (p.=) c.709-43G>A (p.=) c.658-43G>A (p.=) c.1633-43G>A (p.=) c.1732-1041G>A (p.=) n.291-3010G>A (p.=) n.182-3010G>A (p.=) n.1707-43G>A n.500-43G>A | gnomAD |
| 3 | g.37047477C>T | CA030595 | MLH1 | c.1732-42C>T (p.=) c.1438-42C>T (p.=) c.1009-42C>T (p.=) c.1525-42C>T (p.=) c.709-42C>T (p.=) c.658-42C>T (p.=) c.1633-42C>T (p.=) c.1732-1040C>T (p.=) n.291-3009C>T (p.=) n.182-3009C>T (p.=) n.1707-42C>T n.500-42C>T | dbSNP ExAC gnomAD |
| 3 | g.37047479C>T | CA72809899 | MLH1 | c.1732-40C>T (p.=) c.1438-40C>T (p.=) c.1009-40C>T (p.=) c.1525-40C>T (p.=) c.709-40C>T (p.=) c.658-40C>T (p.=) c.1633-40C>T (p.=) c.1732-1038C>T (p.=) n.291-3007C>T (p.=) n.182-3007C>T (p.=) n.1707-40C>T n.500-40C>T | dbSNP |
| 3 | g.37047480C>T | CA72809923 | MLH1 | c.1732-39C>T (p.=) c.1438-39C>T (p.=) c.1009-39C>T (p.=) c.1525-39C>T (p.=) c.709-39C>T (p.=) c.658-39C>T (p.=) c.1633-39C>T (p.=) c.1732-1037C>T (p.=) n.291-3006C>T (p.=) n.182-3006C>T (p.=) n.1707-39C>T n.500-39C>T | dbSNP |
| 3 | g.37047481G>A | CA030576 | MLH1 | c.1732-38G>A (p.=) c.1438-38G>A (p.=) c.1009-38G>A (p.=) c.1525-38G>A (p.=) c.709-38G>A (p.=) c.658-38G>A (p.=) c.1633-38G>A (p.=) c.1732-1036G>A (p.=) n.291-3005G>A (p.=) n.182-3005G>A (p.=) n.1707-38G>A n.500-38G>A | dbSNP ExAC gnomAD |
| 3 | g.37047482T>A | CA030567 | MLH1 | c.1732-37T>A (p.=) c.1438-37T>A (p.=) c.1009-37T>A (p.=) c.1525-37T>A (p.=) c.709-37T>A (p.=) c.658-37T>A (p.=) c.1633-37T>A (p.=) c.1732-1035T>A (p.=) n.291-3004T>A (p.=) n.182-3004T>A (p.=) n.1707-37T>A n.500-37T>A | dbSNP ExAC gnomAD |
| 3 | g.37047483T>C | CA030551 | MLH1 | c.1732-36T>C (p.=) c.1438-36T>C (p.=) c.1009-36T>C (p.=) c.1525-36T>C (p.=) c.709-36T>C (p.=) c.658-36T>C (p.=) c.1633-36T>C (p.=) c.1732-1034T>C (p.=) n.291-3003T>C (p.=) n.182-3003T>C (p.=) n.1707-36T>C n.500-36T>C | dbSNP ExAC |
| 3 | g.37047488C>T | CA030536 | MLH1 | c.1732-31C>T (p.=) c.1438-31C>T (p.=) c.1009-31C>T (p.=) c.1525-31C>T (p.=) c.709-31C>T (p.=) c.658-31C>T (p.=) c.1633-31C>T (p.=) c.1732-1029C>T (p.=) n.291-2998C>T (p.=) n.182-2998C>T (p.=) n.1707-31C>T n.500-31C>T | dbSNP ExAC gnomAD |
| 3 | g.37047491G>A | CA030492 | MLH1 | c.1732-28G>A (p.=) c.1438-28G>A (p.=) c.1009-28G>A (p.=) c.1525-28G>A (p.=) c.709-28G>A (p.=) c.658-28G>A (p.=) c.1633-28G>A (p.=) c.1732-1026G>A (p.=) n.291-2995G>A (p.=) n.182-2995G>A (p.=) n.1707-28G>A n.500-28G>A | dbSNP ExAC gnomAD |
| 3 | g.37047491G>C | CA030507 | MLH1 | c.1732-28G>C (p.=) c.1438-28G>C (p.=) c.1009-28G>C (p.=) c.1525-28G>C (p.=) c.709-28G>C (p.=) c.658-28G>C (p.=) c.1633-28G>C (p.=) c.1732-1026G>C (p.=) n.291-2995G>C (p.=) n.182-2995G>C (p.=) n.1707-28G>C n.500-28G>C | dbSNP ExAC gnomAD |
| 3 | g.37047494C>T | CA030480 | MLH1 | c.1732-25C>T (p.=) c.1438-25C>T (p.=) c.1009-25C>T (p.=) c.1525-25C>T (p.=) c.709-25C>T (p.=) c.658-25C>T (p.=) c.1633-25C>T (p.=) c.1732-1023C>T (p.=) n.291-2992C>T (p.=) n.182-2992C>T (p.=) n.1707-25C>T n.500-25C>T | dbSNP ExAC gnomAD |
| 3 | g.37047496T>C | CA542613859 | MLH1 | c.1732-23T>C (p.=) c.1438-23T>C (p.=) c.1009-23T>C (p.=) c.1525-23T>C (p.=) c.709-23T>C (p.=) c.658-23T>C (p.=) c.1633-23T>C (p.=) c.1732-1021T>C (p.=) n.291-2990T>C (p.=) n.182-2990T>C (p.=) n.1707-23T>C n.500-23T>C | gnomAD |
| 3 | g.37047499A>G | CA72809976 | MLH1 | c.1732-20A>G (p.=) c.1438-20A>G (p.=) c.1009-20A>G (p.=) c.1525-20A>G (p.=) c.709-20A>G (p.=) c.658-20A>G (p.=) c.1633-20A>G (p.=) c.1732-1018A>G (p.=) n.291-2987A>G (p.=) n.182-2987A>G (p.=) n.1707-20A>G n.500-20A>G | dbSNP |
| 3 | g.37047499A>T | CA913188089 | MLH1 | c.1732-20A>T (p.=) c.1438-20A>T (p.=) c.1009-20A>T (p.=) c.1525-20A>T (p.=) c.709-20A>T (p.=) c.658-20A>T (p.=) c.1633-20A>T (p.=) c.1732-1018A>T (p.=) n.291-2987A>T (p.=) n.182-2987A>T (p.=) n.1707-20A>T n.500-20A>T | ClinVar |
| 3 | g.37047500T>A | CA006607 | MLH1 | c.1732-19T>A (p.=) c.1438-19T>A (p.=) c.1009-19T>A (p.=) c.1525-19T>A (p.=) c.709-19T>A (p.=) c.658-19T>A (p.=) c.1633-19T>A (p.=) c.1732-1017T>A (p.=) n.291-2986T>A (p.=) n.182-2986T>A (p.=) n.1707-19T>A n.500-19T>A | ClinVar dbSNP ExAC gnomAD |
| 3 | g.37047500T>C | CA906725442 | MLH1 | c.1732-19T>C (p.=) c.1438-19T>C (p.=) c.1009-19T>C (p.=) c.1525-19T>C (p.=) c.709-19T>C (p.=) c.658-19T>C (p.=) c.1633-19T>C (p.=) c.1732-1017T>C (p.=) n.291-2986T>C (p.=) n.182-2986T>C (p.=) n.1707-19T>C n.500-19T>C | |
| 3 | g.37047501G>C | CA542613860 | MLH1 | c.1732-18G>C (p.=) c.1438-18G>C (p.=) c.1009-18G>C (p.=) c.1525-18G>C (p.=) c.709-18G>C (p.=) c.658-18G>C (p.=) c.1633-18G>C (p.=) c.1732-1016G>C (p.=) n.291-2985G>C (p.=) n.182-2985G>C (p.=) n.1707-18G>C n.500-18G>C | gnomAD |
| 3 | g.37047505T>G | CA913188090 | MLH1 | c.1732-14T>G (p.=) c.1438-14T>G (p.=) c.1009-14T>G (p.=) c.1525-14T>G (p.=) c.709-14T>G (p.=) c.658-14T>G (p.=) c.1633-14T>G (p.=) c.1732-1012T>G (p.=) n.291-2981T>G (p.=) n.182-2981T>G (p.=) n.1707-14T>G n.500-14T>G | |
| 3 | g.37047509T>A | CA915942311 | MLH1 | c.1732-10T>A (p.=) c.1438-10T>A (p.=) c.1009-10T>A (p.=) c.1525-10T>A (p.=) c.709-10T>A (p.=) c.658-10T>A (p.=) c.1633-10T>A (p.=) c.1732-1008T>A (p.=) n.291-2977T>A (p.=) n.182-2977T>A (p.=) n.1707-10T>A n.500-10T>A | ClinVar |
| 3 | g.37047509T>C | CA906725454 | MLH1 | c.1732-10T>C (p.=) c.1438-10T>C (p.=) c.1009-10T>C (p.=) c.1525-10T>C (p.=) c.709-10T>C (p.=) c.658-10T>C (p.=) c.1633-10T>C (p.=) c.1732-1008T>C (p.=) n.291-2977T>C (p.=) n.182-2977T>C (p.=) n.1707-10T>C n.500-10T>C | ClinVar |
| 3 | g.37047510T>C | CA006648 | MLH1 | c.1732-9T>C (p.=) c.1438-9T>C (p.=) c.1009-9T>C (p.=) c.1525-9T>C (p.=) c.709-9T>C (p.=) c.658-9T>C (p.=) c.1633-9T>C (p.=) c.1732-1007T>C (p.=) n.291-2976T>C (p.=) n.182-2976T>C (p.=) n.1707-9T>C n.500-9T>C | ClinVar dbSNP |
| 3 | g.37047512T>C | CA030664 | MLH1 | c.1732-7T>C (p.=) c.1438-7T>C (p.=) c.1009-7T>C (p.=) c.1525-7T>C (p.=) c.709-7T>C (p.=) c.658-7T>C (p.=) c.1633-7T>C (p.=) c.1732-1005T>C (p.=) n.291-2974T>C (p.=) n.182-2974T>C (p.=) n.1707-7T>C n.500-7T>C | ClinVar dbSNP ExAC gnomAD |
| 3 | g.37047513T>C | CA10582177 | MLH1 | c.1732-6T>C (p.=) c.1438-6T>C (p.=) c.1009-6T>C (p.=) c.1525-6T>C (p.=) c.709-6T>C (p.=) c.658-6T>C (p.=) c.1633-6T>C (p.=) c.1732-1004T>C (p.=) n.291-2973T>C (p.=) n.182-2973T>C (p.=) n.1707-6T>C n.500-6T>C | ClinVar dbSNP |
| 3 | g.37047514C>A | CA915942312 | MLH1 | c.1732-5C>A (p.=) c.1438-5C>A (p.=) c.1009-5C>A (p.=) c.1525-5C>A (p.=) c.709-5C>A (p.=) c.658-5C>A (p.=) c.1633-5C>A (p.=) c.1732-1003C>A (p.=) n.291-2972C>A (p.=) n.182-2972C>A (p.=) n.1707-5C>A n.500-5C>A | ClinVar |
| 3 | g.37047514C>T | CA006640 | MLH1 | c.1732-5C>T (p.=) c.1438-5C>T (p.=) c.1009-5C>T (p.=) c.1525-5C>T (p.=) c.709-5C>T (p.=) c.658-5C>T (p.=) c.1633-5C>T (p.=) c.1732-1003C>T (p.=) n.291-2972C>T (p.=) n.182-2972C>T (p.=) n.1707-5C>T n.500-5C>T | ClinVar dbSNP |
| 3 | g.37047515C>G | CA10578261 | MLH1 | c.1732-4C>G (p.=) c.1438-4C>G (p.=) c.1009-4C>G (p.=) c.1525-4C>G (p.=) c.709-4C>G (p.=) c.658-4C>G (p.=) c.1633-4C>G (p.=) c.1732-1002C>G (p.=) n.291-2971C>G (p.=) n.182-2971C>G (p.=) n.1707-4C>G n.500-4C>G | ClinVar dbSNP |
| 3 | g.37047516T>C | CA906725468 | MLH1 | c.1732-3T>C (p.=) c.1438-3T>C (p.=) c.1009-3T>C (p.=) c.1525-3T>C (p.=) c.709-3T>C (p.=) c.658-3T>C (p.=) c.1633-3T>C (p.=) c.1732-1001T>C (p.=) n.291-2970T>C (p.=) n.182-2970T>C (p.=) n.1707-3T>C n.500-3T>C | |
| 3 | g.37047516T>G | CA916080319 | MLH1 | c.1732-3T>G (p.=) c.1438-3T>G (p.=) c.1009-3T>G (p.=) c.1525-3T>G (p.=) c.709-3T>G (p.=) c.658-3T>G (p.=) c.1633-3T>G (p.=) c.1732-1001T>G (p.=) n.291-2970T>G (p.=) n.182-2970T>G (p.=) n.1707-3T>G n.500-3T>G | |
| 3 | g.37047517A>C | CA352064122 | MLH1 | c.1732-2A>C (p.=) c.1438-2A>C (p.=) c.1009-2A>C (p.=) c.1525-2A>C (p.=) c.709-2A>C (p.=) c.658-2A>C (p.=) c.1633-2A>C (p.=) c.1732-1000A>C (p.=) n.291-2969A>C (p.=) n.182-2969A>C (p.=) n.1707-2A>C n.500-2A>C | ClinVar |
| 3 | g.37047517A>G | CA006625 | MLH1 | c.1732-2A>G (p.=) c.1438-2A>G (p.=) c.1009-2A>G (p.=) c.1525-2A>G (p.=) c.709-2A>G (p.=) c.658-2A>G (p.=) c.1633-2A>G (p.=) c.1732-1000A>G (p.=) n.291-2969A>G (p.=) n.182-2969A>G (p.=) n.1707-2A>G n.500-2A>G | ClinVar dbSNP |