| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.14716720_14716723delinsAAGG | CA1528880773 | ANKH | c.1124_1127delinsCCTT (p.Ser375=) n.366_369delinsCCTT c.1040_1043delinsCCTT (p.Ser347=) | |
| 5 | g.14716723_14716725del | CA253426 | ANKH | c.1124_1126del (p.Ser375del) n.366_368del c.1040_1042del (p.Ser347del) | ClinVar dbSNP |
| 5 | g.14716723G>A | CA359245264 | ANKH | c.1124C>T (p.Ser375Phe) n.366C>T c.1040C>T (p.Ser347Phe) | |
| 5 | g.14716723G>C | CA359245265 | ANKH | c.1124C>G (p.Ser375Cys) n.366C>G c.1040C>G (p.Ser347Cys) | |
| 5 | g.14716723G= | CA1528880776 | ANKH | c.1124C= (p.Ser375=) n.366C= c.1040C= (p.Ser347=) | |
| 5 | g.14716723G>T | CA359245266 | ANKH | c.1124C>A (p.Ser375Tyr) n.366C>A c.1040C>A (p.Ser347Tyr) | |
| 5 | g.14716724A>C | CA359245267 | ANKH | c.1123T>G (p.Ser375Ala) n.365T>G c.1039T>G (p.Ser347Ala) | |
| 5 | g.14716724A>G | CA359245269 | ANKH | c.1123T>C (p.Ser375Pro) n.365T>C c.1039T>C (p.Ser347Pro) | |
| 5 | g.14716724A>T | CA359245268 | ANKH | c.1123T>A (p.Ser375Thr) n.365T>A c.1039T>A (p.Ser347Thr) | |
| 5 | g.14716724dup | CA1528880777 | ANKH | c.1123dup (p.Ser375PhefsTer?) n.365dup c.1039dup (p.Ser347PhefsTer?) | dbSNP |
| 5 | g.14716725G>A | CA3208919 | ANKH | c.1122C>T (p.Phe374=) n.364C>T c.1038C>T (p.Phe346=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.14716725G>C | CA359245270 | ANKH | c.1122C>G (p.Phe374Leu) n.364C>G c.1038C>G (p.Phe346Leu) | |
| 5 | g.14716725G= | CA1528880778 | ANKH | c.1122C= (p.Phe374=) n.364C= c.1038C= (p.Phe346=) | |
| 5 | g.14716725G>T | CA359245271 | ANKH | c.1122C>A (p.Phe374Leu) n.364C>A c.1038C>A (p.Phe346Leu) | |
| 5 | g.14716726A>C | CA359245272 | ANKH | c.1121T>G (p.Phe374Cys) n.363T>G c.1037T>G (p.Phe346Cys) | |
| 5 | g.14716726A>G | CA359245273 | ANKH | c.1121T>C (p.Phe374Ser) n.363T>C c.1037T>C (p.Phe346Ser) | |
| 5 | g.14716726A>T | CA359245274 | ANKH | c.1121T>A (p.Phe374Tyr) n.363T>A c.1037T>A (p.Phe346Tyr) | |
| 5 | g.14716727A>C | CA359245275 | ANKH | c.1120T>G (p.Phe374Val) n.362T>G c.1036T>G (p.Phe346Val) | |
| 5 | g.14716727A>G | CA359245276 | ANKH | c.1120T>C (p.Phe374Leu) n.362T>C c.1036T>C (p.Phe346Leu) | |
| 5 | g.14716727A>T | CA359245277 | ANKH | c.1120T>A (p.Phe374Ile) n.362T>A c.1036T>A (p.Phe346Ile) | |
| 5 | g.14716728G>A | CA443295567 | ANKH | c.1119C>T (p.Ile373=) n.361C>T c.1035C>T (p.Ile345=) | |
| 5 | g.14716728G>C | CA359245278 | ANKH | c.1119C>G (p.Ile373Met) n.361C>G c.1035C>G (p.Ile345Met) | |
| 5 | g.14716728G>T | CA443295568 | ANKH | c.1119C>A (p.Ile373=) n.361C>A c.1035C>A (p.Ile345=) | COSMIC |
| 5 | g.14716729A>C | CA359245280 | ANKH | c.1118T>G (p.Ile373Ser) n.360T>G c.1034T>G (p.Ile345Ser) | |
| 5 | g.14716729A>G | CA359245281 | ANKH | c.1118T>C (p.Ile373Thr) n.360T>C c.1034T>C (p.Ile345Thr) | |
| 5 | g.14716729A>T | CA359245279 | ANKH | c.1118T>A (p.Ile373Asn) n.360T>A c.1034T>A (p.Ile345Asn) | COSMIC |
| 5 | g.14716730T>A | CA359245282 | ANKH | c.1117A>T (p.Ile373Phe) n.359A>T c.1033A>T (p.Ile345Phe) | gnomAD v4 |
| 5 | g.14716730T>C | CA359245283 | ANKH | c.1117A>G (p.Ile373Val) n.359A>G c.1033A>G (p.Ile345Val) | |
| 5 | g.14716730T>G | CA359245284 | ANKH | c.1117A>C (p.Ile373Leu) n.359A>C c.1033A>C (p.Ile345Leu) | |
| 5 | g.14716731C>A | CA443295569 | ANKH | c.1116G>T (p.Arg372=) n.358G>T c.1032G>T (p.Arg344=) | gnomAD v3 gnomAD v4 |
| 5 | g.14716731C= | CA1528880779 | ANKH | c.1116G= (p.Arg372=) n.358G= c.1032G= (p.Arg344=) | |
| 5 | g.14716731C>G | CA3208920 | ANKH | c.1116G>C (p.Arg372=) n.358G>C c.1032G>C (p.Arg344=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.14716731C>T | CA443295570 | ANKH | c.1116G>A (p.Arg372=) n.358G>A c.1032G>A (p.Arg344=) | COSMIC |
| 5 | g.14716732C>A | CA359245285 | ANKH | c.1115G>T (p.Arg372Leu) n.357G>T c.1031G>T (p.Arg344Leu) | |
| 5 | g.14716732C= | CA1528880780 | ANKH | c.1115G= (p.Arg372=) n.357G= c.1031G= (p.Arg344=) | |
| 5 | g.14716732C>G | CA359245286 | ANKH | c.1115G>C (p.Arg372Pro) n.357G>C c.1031G>C (p.Arg344Pro) | |
| 5 | g.14716732C>T | CA3208921 | ANKH | c.1115G>A (p.Arg372Gln) n.357G>A c.1031G>A (p.Arg344Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.14716733G>A | CA359245287 | ANKH | c.1114C>T (p.Arg372Trp) n.356C>T c.1030C>T (p.Arg344Trp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.14716733G>C | CA359245288 | ANKH | c.1114C>G (p.Arg372Gly) n.356C>G c.1030C>G (p.Arg344Gly) | |
| 5 | g.14716733G= | CA1528880781 | ANKH | c.1114C= (p.Arg372=) n.356C= c.1030C= (p.Arg344=) | |
| 5 | g.14716733G>T | CA443295571 | ANKH | c.1114C>A (p.Arg372=) n.356C>A c.1030C>A (p.Arg344=) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.14716734C>A | CA359245289 | ANKH | c.1113G>T (p.Leu371Phe) n.355G>T c.1029G>T (p.Leu343Phe) | |
| 5 | g.14716734C>G | CA359245290 | ANKH | c.1113G>C (p.Leu371Phe) n.355G>C c.1029G>C (p.Leu343Phe) | |
| 5 | g.14716734C>T | CA443295572 | ANKH | c.1113G>A (p.Leu371=) n.355G>A c.1029G>A (p.Leu343=) | |
| 5 | g.14716735A>C | CA359245291 | ANKH | c.1112T>G (p.Leu371Trp) n.354T>G c.1028T>G (p.Leu343Trp) | |
| 5 | g.14716735A>G | CA359245292 | ANKH | c.1112T>C (p.Leu371Ser) n.354T>C c.1028T>C (p.Leu343Ser) | ClinVar |
| 5 | g.14716735A>T | CA359245293 | ANKH | c.1112T>A (p.Leu371Ter) n.354T>A c.1028T>A (p.Leu343Ter) | |
| 5 | g.14716736A>C | CA359245294 | ANKH | c.1111T>G (p.Leu371Val) n.353T>G c.1027T>G (p.Leu343Val) | |
| 5 | g.14716736A>G | CA443295573 | ANKH | c.1111T>C (p.Leu371=) n.353T>C c.1027T>C (p.Leu343=) | |
| 5 | g.14716736A>T | CA359245295 | ANKH | c.1111T>A (p.Leu371Met) n.353T>A c.1027T>A (p.Leu343Met) |