| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.85956299_85956300delinsGTC | CA2695234674 | CHM | c.1019_1020delinsGAC (p.Ser340Ter) n.126+71191_126+71192delinsGAC c.956_957delinsGAC (p.Ser319Ter) c.575_576delinsGAC (p.Ser192Ter) | |
| X | g.85956300G>A | CA413785281 | CHM | c.1019C>T (p.Ser340Leu) n.126+71191C>T c.956C>T (p.Ser319Leu) c.575C>T (p.Ser192Leu) | |
| X | g.85956300G>C | CA413785282 | CHM | c.1019C>G (p.Ser340Ter) n.126+71191C>G c.956C>G (p.Ser319Ter) c.575C>G (p.Ser192Ter) | |
| X | g.85956300G= | CA2442478044 | CHM | c.1019C= (p.Ser340=) n.126+71191C= c.956C= (p.Ser319=) c.575C= (p.Ser192=) | |
| X | g.85956300G>T | CA16043335 | CHM | c.1019C>A (p.Ser340Ter) n.126+71191C>A c.956C>A (p.Ser319Ter) c.575C>A (p.Ser192Ter) | ClinVar dbSNP COSMIC |
| X | g.85956301A>C | CA413785284 | CHM | c.1018T>G (p.Ser340Ala) n.126+71190T>G c.955T>G (p.Ser319Ala) c.574T>G (p.Ser192Ala) | |
| X | g.85956301A>G | CA413785285 | CHM | c.1018T>C (p.Ser340Pro) n.126+71190T>C c.955T>C (p.Ser319Pro) c.574T>C (p.Ser192Pro) | |
| X | g.85956301A>T | CA413785287 | CHM | c.1018T>A (p.Ser340Thr) n.126+71190T>A c.955T>A (p.Ser319Thr) c.574T>A (p.Ser192Thr) | |
| X | g.85956302A>C | CA413785288 | CHM | c.1017T>G (p.His339Gln) n.126+71189T>G c.954T>G (p.His318Gln) c.573T>G (p.His191Gln) | |
| X | g.85956302A>G | CA517491034 | CHM | c.1017T>C (p.His339=) n.126+71189T>C c.954T>C (p.His318=) c.573T>C (p.His191=) | gnomAD v4 |
| X | g.85956302A>T | CA413785290 | CHM | c.1017T>A (p.His339Gln) n.126+71189T>A c.954T>A (p.His318Gln) c.573T>A (p.His191Gln) | |
| X | g.85956303T>A | CA413785295 | CHM | c.1016A>T (p.His339Leu) n.126+71188A>T c.953A>T (p.His318Leu) c.572A>T (p.His191Leu) | |
| X | g.85956303T>C | CA413785293 | CHM | c.1016A>G (p.His339Arg) n.126+71188A>G c.953A>G (p.His318Arg) c.572A>G (p.His191Arg) | |
| X | g.85956303T>G | CA413785292 | CHM | c.1016A>C (p.His339Pro) n.126+71188A>C c.953A>C (p.His318Pro) c.572A>C (p.His191Pro) | |
| X | g.85956304G>A | CA413785296 | CHM | c.1015C>T (p.His339Tyr) n.126+71187C>T c.952C>T (p.His318Tyr) c.571C>T (p.His191Tyr) | |
| X | g.85956304G>C | CA413785298 | CHM | c.1015C>G (p.His339Asp) n.126+71187C>G c.952C>G (p.His318Asp) c.571C>G (p.His191Asp) | |
| X | g.85956304G= | CA2442478045 | CHM | c.1015C= (p.His339=) n.126+71187C= c.952C= (p.His318=) c.571C= (p.His191=) | |
| X | g.85956304G>T | CA413785300 | CHM | c.1015C>A (p.His339Asn) n.126+71187C>A c.952C>A (p.His318Asn) c.571C>A (p.His191Asn) | dbSNP |
| X | g.85956304_85956309delinsTG | CA2695234675 | CHM | c.1010_1015delinsCA (p.Val337AlafsTer6) n.126+71182_126+71187delinsCA c.947_952delinsCA (p.Val316AlafsTer6) c.566_571delinsCA (p.Val189AlafsTer6) | |
| X | g.85956305C>A | CA413785302 | CHM | c.1014G>T (p.Met338Ile) n.126+71186G>T c.951G>T (p.Met317Ile) c.570G>T (p.Met190Ile) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.85956305C= | CA2442478046 | CHM | c.1014G= (p.Met338=) n.126+71186G= c.951G= (p.Met317=) c.570G= (p.Met190=) | |
| X | g.85956305C>G | CA413785303 | CHM | c.1014G>C (p.Met338Ile) n.126+71186G>C c.951G>C (p.Met317Ile) c.570G>C (p.Met190Ile) | |
| X | g.85956305C>T | CA332654829 | CHM | c.1014G>A (p.Met338Ile) n.126+71186G>A c.951G>A (p.Met317Ile) c.570G>A (p.Met190Ile) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.85956306A= | CA2442478047 | CHM | c.1013T= (p.Met338=) n.126+71185T= c.950T= (p.Met317=) c.569T= (p.Met190=) | |
| X | g.85956306A>C | CA413785305 | CHM | c.1013T>G (p.Met338Arg) n.126+71185T>G c.950T>G (p.Met317Arg) c.569T>G (p.Met190Arg) | dbSNP gnomAD v4 |
| X | g.85956306A>G | CA413785307 | CHM | c.1013T>C (p.Met338Thr) n.126+71185T>C c.950T>C (p.Met317Thr) c.569T>C (p.Met190Thr) | gnomAD v4 |
| X | g.85956306A>T | CA413785308 | CHM | c.1013T>A (p.Met338Lys) n.126+71185T>A c.950T>A (p.Met317Lys) c.569T>A (p.Met190Lys) | |
| X | g.85956307T>A | CA413785310 | CHM | c.1012A>T (p.Met338Leu) n.126+71184A>T c.949A>T (p.Met317Leu) c.568A>T (p.Met190Leu) | |
| X | g.85956307T>C | CA413785312 | CHM | c.1012A>G (p.Met338Val) n.126+71184A>G c.949A>G (p.Met317Val) c.568A>G (p.Met190Val) | dbSNP |
| X | g.85956307T>G | CA413785313 | CHM | c.1012A>C (p.Met338Leu) n.126+71184A>C c.949A>C (p.Met317Leu) c.568A>C (p.Met190Leu) | |
| X | g.85956307T= | CA2442478048 | CHM | c.1012A= (p.Met338=) n.126+71184A= c.949A= (p.Met317=) c.568A= (p.Met190=) | |
| X | g.85956308G>A | CA517491035 | CHM | c.1011C>T (p.Val337=) n.126+71183C>T c.948C>T (p.Val316=) c.567C>T (p.Val189=) | ClinVar dbSNP gnomAD v4 |
| X | g.85956308G>C | CA517491036 | CHM | c.1011C>G (p.Val337=) n.126+71183C>G c.948C>G (p.Val316=) c.567C>G (p.Val189=) | |
| X | g.85956308G>T | CA517491037 | CHM | c.1011C>A (p.Val337=) n.126+71183C>A c.948C>A (p.Val316=) c.567C>A (p.Val189=) | |
| X | g.85956309A>C | CA413785319 | CHM | c.1010T>G (p.Val337Gly) n.126+71182T>G c.947T>G (p.Val316Gly) c.566T>G (p.Val189Gly) | |
| X | g.85956309A>G | CA413785317 | CHM | c.1010T>C (p.Val337Ala) n.126+71182T>C c.947T>C (p.Val316Ala) c.566T>C (p.Val189Ala) | COSMIC |
| X | g.85956309A>T | CA413785315 | CHM | c.1010T>A (p.Val337Asp) n.126+71182T>A c.947T>A (p.Val316Asp) c.566T>A (p.Val189Asp) | |
| X | g.85956310C>A | CA413785320 | CHM | c.1009G>T (p.Val337Phe) n.126+71181G>T c.946G>T (p.Val316Phe) c.565G>T (p.Val189Phe) | |
| X | g.85956310C= | CA2442478049 | CHM | c.1009G= (p.Val337=) n.126+71181G= c.946G= (p.Val316=) c.565G= (p.Val189=) | |
| X | g.85956310C>G | CA413785324 | CHM | c.1009G>C (p.Val337Leu) n.126+71181G>C c.946G>C (p.Val316Leu) c.565G>C (p.Val189Leu) | |
| X | g.85956310C>T | CA413785322 | CHM | c.1009G>A (p.Val337Ile) n.126+71181G>A c.946G>A (p.Val316Ile) c.565G>A (p.Val189Ile) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.85956311A= | CA2442478050 | CHM | c.1008T= (p.Ile336=) n.126+71180T= c.945T= (p.Ile315=) c.564T= (p.Ile188=) | |
| X | g.85956311A>C | CA413785326 | CHM | c.1008T>G (p.Ile336Met) n.126+71180T>G c.945T>G (p.Ile315Met) c.564T>G (p.Ile188Met) | gnomAD v4 |
| X | g.85956311A>G | CA10465478 | CHM | c.1008T>C (p.Ile336=) n.126+71180T>C c.945T>C (p.Ile315=) c.564T>C (p.Ile188=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.85956311A>T | CA517491038 | CHM | c.1008T>A (p.Ile336=) n.126+71180T>A c.945T>A (p.Ile315=) c.564T>A (p.Ile188=) | |
| X | g.85956312A>C | CA413785327 | CHM | c.1007T>G (p.Ile336Ser) n.126+71179T>G c.944T>G (p.Ile315Ser) c.563T>G (p.Ile188Ser) | |
| X | g.85956312A>G | CA413785328 | CHM | c.1007T>C (p.Ile336Thr) n.126+71179T>C c.944T>C (p.Ile315Thr) c.563T>C (p.Ile188Thr) | |
| X | g.85956312A>T | CA413785330 | CHM | c.1007T>A (p.Ile336Asn) n.126+71179T>A c.944T>A (p.Ile315Asn) c.563T>A (p.Ile188Asn) | |
| X | g.85956316_85956317del | CA2694203650 | CHM | c.1006_1007del (p.Ile336CysfsTer?) n.126+71178_126+71179del c.943_944del (p.Ile315CysfsTer?) c.562_563del (p.Ile188CysfsTer?) | gnomAD v4 |
| X | g.85956313T>A | CA413785332 | CHM | c.1006A>T (p.Ile336Phe) n.126+71178A>T c.943A>T (p.Ile315Phe) c.562A>T (p.Ile188Phe) |