| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.14716694G>A | CA3208916 | ANKH | c.1141+12C>T (n.1141+12C>T) n.383+12C>T c.1057+12C>T (n.1057+12C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.14716694G>C | CA557887474 | ANKH | c.1141+12C>G (n.1141+12C>G) n.383+12C>G c.1057+12C>G (n.1057+12C>G) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.14716694G= | CA1528880761 | ANKH | c.1141+12C= (n.1141+12C=) n.383+12C= c.1057+12C= (n.1057+12C=) | |
| 5 | g.14716694_14716695delinsGT | CA1528880762 | ANKH | c.1141+11_1141+12delinsAC (n.1141+11_1141+12delinsAC) n.383+11_383+12delinsAC c.1057+11_1057+12delinsAC (n.1057+11_1057+12delinsAC) | |
| 5 | g.14716695T>C | CA1528880764 | ANKH | c.1141+11A>G (n.1141+11A>G) n.383+11A>G c.1057+11A>G (n.1057+11A>G) | dbSNP |
| 5 | g.14716695T= | CA1528880763 | ANKH | c.1141+11A= (n.1141+11A=) n.383+11A= c.1057+11A= (n.1057+11A=) | |
| 5 | g.14716699del | CA917419612 | ANKH | c.1141+11del (n.1141+11del) n.383+11del c.1057+11del (n.1057+11del) | dbSNP |
| 5 | g.14716696T>G | CA3208917 | ANKH | c.1141+10A>C (n.1141+10A>C) n.383+10A>C c.1057+10A>C (n.1057+10A>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.14716696T= | CA1528880765 | ANKH | c.1141+10A= (n.1141+10A=) n.383+10A= c.1057+10A= (n.1057+10A=) | |
| 5 | g.14716697T>C | CA1528880767 | ANKH | c.1141+9A>G (n.1141+9A>G) n.383+9A>G c.1057+9A>G (n.1057+9A>G) | dbSNP gnomAD v4 |
| 5 | g.14716697T= | CA1528880766 | ANKH | c.1141+9A= (n.1141+9A=) n.383+9A= c.1057+9A= (n.1057+9A=) | |
| 5 | g.14716699T>C | CA2673310461 | ANKH | c.1141+7A>G (n.1141+7A>G) n.383+7A>G c.1057+7A>G (n.1057+7A>G) | gnomAD v4 |
| 5 | g.14716701T>C | CA248248 | ANKH | c.1141+5A>G (n.1141+5A>G) n.383+5A>G c.1057+5A>G (n.1057+5A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.14716701T= | CA1528880768 | ANKH | c.1141+5A= (n.1141+5A=) n.383+5A= c.1057+5A= (n.1057+5A=) | |
| 5 | g.14716704A>C | CA359245223 | ANKH | c.1141+2T>G (n.1141+2T>G) n.383+2T>G c.1057+2T>G (n.1057+2T>G) | |
| 5 | g.14716704A>G | CA359245222 | ANKH | c.1141+2T>C (n.1141+2T>C) n.383+2T>C c.1057+2T>C (n.1057+2T>C) | |
| 5 | g.14716704A>T | CA359245224 | ANKH | c.1141+2T>A (n.1141+2T>A) n.383+2T>A c.1057+2T>A (n.1057+2T>A) | |
| 5 | g.14716705C>A | CA359245225 | ANKH | c.1141+1G>T (n.1141+1G>T) n.383+1G>T c.1057+1G>T (n.1057+1G>T) | |
| 5 | g.14716705C= | CA1528880769 | ANKH | c.1141+1G= (n.1141+1G=) n.383+1G= c.1057+1G= (n.1057+1G=) | |
| 5 | g.14716705C>G | CA359245226 | ANKH | c.1141+1G>C (n.1141+1G>C) n.383+1G>C c.1057+1G>C (n.1057+1G>C) | |
| 5 | g.14716705C>T | CA359245227 | ANKH | c.1141+1G>A (n.1141+1G>A) n.383+1G>A c.1057+1G>A (n.1057+1G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.14716706C>A | CA359245228 | ANKH | c.1141G>T (p.Val381Phe) n.383G>T c.1057G>T (p.Val353Phe) | |
| 5 | g.14716706C>G | CA359245229 | ANKH | c.1141G>C (p.Val381Leu) n.383G>C c.1057G>C (p.Val353Leu) | |
| 5 | g.14716706C>T | CA359245230 | ANKH | c.1141G>A (p.Val381Ile) n.383G>A c.1057G>A (p.Val353Ile) | |
| 5 | g.14716707T>A | CA443295553 | ANKH | c.1140A>T (p.Pro380=) n.382A>T c.1056A>T (p.Pro352=) | |
| 5 | g.14716707T>C | CA443295554 | ANKH | c.1140A>G (p.Pro380=) n.382A>G c.1056A>G (p.Pro352=) | |
| 5 | g.14716707T>G | CA443295555 | ANKH | c.1140A>C (p.Pro380=) n.382A>C c.1056A>C (p.Pro352=) | |
| 5 | g.14716708G>A | CA359245231 | ANKH | c.1139C>T (p.Pro380Leu) n.381C>T c.1055C>T (p.Pro352Leu) | |
| 5 | g.14716708G>C | CA359245232 | ANKH | c.1139C>G (p.Pro380Arg) n.381C>G c.1055C>G (p.Pro352Arg) | |
| 5 | g.14716708G>T | CA359245233 | ANKH | c.1139C>A (p.Pro380Gln) n.381C>A c.1055C>A (p.Pro352Gln) | |
| 5 | g.14716709G>A | CA359245234 | ANKH | c.1138C>T (p.Pro380Ser) n.380C>T c.1054C>T (p.Pro352Ser) | |
| 5 | g.14716709G>C | CA359245235 | ANKH | c.1138C>G (p.Pro380Ala) n.380C>G c.1054C>G (p.Pro352Ala) | |
| 5 | g.14716709G>T | CA359245236 | ANKH | c.1138C>A (p.Pro380Thr) n.380C>A c.1054C>A (p.Pro352Thr) | |
| 5 | g.14716710A>C | CA443295556 | ANKH | c.1137T>G (p.Val379=) n.379T>G c.1053T>G (p.Val351=) | gnomAD v4 |
| 5 | g.14716710A>G | CA443295557 | ANKH | c.1137T>C (p.Val379=) n.379T>C c.1053T>C (p.Val351=) | |
| 5 | g.14716710A>T | CA443295558 | ANKH | c.1137T>A (p.Val379=) n.379T>A c.1053T>A (p.Val351=) | |
| 5 | g.14716711A= | CA1528880770 | ANKH | c.1136T= (p.Val379=) n.378T= c.1052T= (p.Val351=) | |
| 5 | g.14716711A>C | CA359245239 | ANKH | c.1136T>G (p.Val379Gly) n.378T>G c.1052T>G (p.Val351Gly) | |
| 5 | g.14716711A>G | CA359245238 | ANKH | c.1136T>C (p.Val379Ala) n.378T>C c.1052T>C (p.Val351Ala) | dbSNP gnomAD v2 |
| 5 | g.14716711A>T | CA359245237 | ANKH | c.1136T>A (p.Val379Asp) n.378T>A c.1052T>A (p.Val351Asp) | |
| 5 | g.14716712C>A | CA359245240 | ANKH | c.1135G>T (p.Val379Phe) n.377G>T c.1051G>T (p.Val351Phe) | gnomAD v4 |
| 5 | g.14716712C>G | CA359245241 | ANKH | c.1135G>C (p.Val379Leu) n.377G>C c.1051G>C (p.Val351Leu) | |
| 5 | g.14716712C>T | CA359245242 | ANKH | c.1135G>A (p.Val379Ile) n.377G>A c.1051G>A (p.Val351Ile) | |
| 5 | g.14716713T>A | CA443295559 | ANKH | c.1134A>T (p.Pro378=) n.376A>T c.1050A>T (p.Pro350=) | |
| 5 | g.14716713T>C | CA443295561 | ANKH | c.1134A>G (p.Pro378=) n.376A>G c.1050A>G (p.Pro350=) | |
| 5 | g.14716713T>G | CA443295560 | ANKH | c.1134A>C (p.Pro378=) n.376A>C c.1050A>C (p.Pro350=) | |
| 5 | g.14716714G>A | CA3208918 | ANKH | c.1133C>T (p.Pro378Leu) n.375C>T c.1049C>T (p.Pro350Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.14716714G>C | CA359245243 | ANKH | c.1133C>G (p.Pro378Arg) n.375C>G c.1049C>G (p.Pro350Arg) | |
| 5 | g.14716714G= | CA1528880771 | ANKH | c.1133C= (p.Pro378=) n.375C= c.1049C= (p.Pro350=) | |
| 5 | g.14716714G>T | CA359245244 | ANKH | c.1133C>A (p.Pro378Gln) n.375C>A c.1049C>A (p.Pro350Gln) | |
| 5 | g.14716715G>A | CA359245245 | ANKH | c.1132C>T (p.Pro378Ser) n.374C>T c.1048C>T (p.Pro350Ser) | gnomAD v4 |
| 5 | g.14716715G>C | CA359245246 | ANKH | c.1132C>G (p.Pro378Ala) n.374C>G c.1048C>G (p.Pro350Ala) | |
| 5 | g.14716715G>T | CA359245247 | ANKH | c.1132C>A (p.Pro378Thr) n.374C>A c.1048C>A (p.Pro350Thr) | |
| 5 | g.14716715_14716718delinsGGAA | CA1528880772 | ANKH | c.1129_1132delinsTTCC (p.Phe377=) n.371_374delinsTTCC c.1045_1048delinsTTCC (p.Phe349=) | |
| 5 | g.14716716G>A | CA443295562 | ANKH | c.1131C>T (p.Phe377=) n.373C>T c.1047C>T (p.Phe349=) | gnomAD v4 |
| 5 | g.14716716G>C | CA359245248 | ANKH | c.1131C>G (p.Phe377Leu) n.373C>G c.1047C>G (p.Phe349Leu) | |
| 5 | g.14716716G>T | CA359245249 | ANKH | c.1131C>A (p.Phe377Leu) n.373C>A c.1047C>A (p.Phe349Leu) | |
| 5 | g.14716720_14716722del | CA253424 | ANKH | c.1129_1131del (p.Phe377del) n.371_373del c.1045_1047del (p.Phe349del) | ClinVar dbSNP |
| 5 | g.14716717A>C | CA359245250 | ANKH | c.1130T>G (p.Phe377Cys) n.372T>G c.1046T>G (p.Phe349Cys) | |
| 5 | g.14716717A>G | CA359245252 | ANKH | c.1130T>C (p.Phe377Ser) n.372T>C c.1046T>C (p.Phe349Ser) | |
| 5 | g.14716717A>T | CA359245251 | ANKH | c.1130T>A (p.Phe377Tyr) n.372T>A c.1046T>A (p.Phe349Tyr) | |
| 5 | g.14716718A>C | CA359245253 | ANKH | c.1129T>G (p.Phe377Val) n.371T>G c.1045T>G (p.Phe349Val) | |
| 5 | g.14716718A>G | CA359245255 | ANKH | c.1129T>C (p.Phe377Leu) n.371T>C c.1045T>C (p.Phe349Leu) | gnomAD v4 COSMIC |
| 5 | g.14716718A>T | CA359245254 | ANKH | c.1129T>A (p.Phe377Ile) n.371T>A c.1045T>A (p.Phe349Ile) | |
| 5 | g.14716719G>A | CA443295563 | ANKH | c.1128C>T (p.Phe376=) n.370C>T c.1044C>T (p.Phe348=) | |
| 5 | g.14716719G>C | CA359245256 | ANKH | c.1128C>G (p.Phe376Leu) n.370C>G c.1044C>G (p.Phe348Leu) | |
| 5 | g.14716719G>T | CA359245257 | ANKH | c.1128C>A (p.Phe376Leu) n.370C>A c.1044C>A (p.Phe348Leu) | gnomAD v4 |
| 5 | g.14716720A= | CA1528880774 | ANKH | c.1127T= (p.Phe376=) n.369T= c.1043T= (p.Phe348=) | |
| 5 | g.14716720A>C | CA359245258 | ANKH | c.1127T>G (p.Phe376Cys) n.369T>G c.1043T>G (p.Phe348Cys) | |
| 5 | g.14716720A>G | CA359245259 | ANKH | c.1127T>C (p.Phe376Ser) n.369T>C c.1043T>C (p.Phe348Ser) | dbSNP gnomAD v4 |
| 5 | g.14716720A>T | CA359245260 | ANKH | c.1127T>A (p.Phe376Tyr) n.369T>A c.1043T>A (p.Phe348Tyr) | |
| 5 | g.14716720_14716723delinsAAGG | CA1528880773 | ANKH | c.1124_1127delinsCCTT (p.Ser375=) n.366_369delinsCCTT c.1040_1043delinsCCTT (p.Ser347=) | |
| 5 | g.14716721A= | CA1528880775 | ANKH | c.1126T= (p.Phe376=) n.368T= c.1042T= (p.Phe348=) | |
| 5 | g.14716721A>C | CA359245261 | ANKH | c.1126T>G (p.Phe376Val) n.368T>G c.1042T>G (p.Phe348Val) | |
| 5 | g.14716721A>G | CA359245262 | ANKH | c.1126T>C (p.Phe376Leu) n.368T>C c.1042T>C (p.Phe348Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.14716721A>T | CA359245263 | ANKH | c.1126T>A (p.Phe376Ile) n.368T>A c.1042T>A (p.Phe348Ile) | gnomAD v4 |
| 5 | g.14716723_14716725del | CA253426 | ANKH | c.1124_1126del (p.Ser375del) n.366_368del c.1040_1042del (p.Ser347del) | ClinVar dbSNP |
| 5 | g.14716722G>A | CA443295564 | ANKH | c.1125C>T (p.Ser375=) n.367C>T c.1041C>T (p.Ser347=) | |
| 5 | g.14716722G>C | CA443295565 | ANKH | c.1125C>G (p.Ser375=) n.367C>G c.1041C>G (p.Ser347=) | |
| 5 | g.14716722G>T | CA443295566 | ANKH | c.1125C>A (p.Ser375=) n.367C>A c.1041C>A (p.Ser347=) | |
| 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) | ClinVar 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) | |
| 5 | g.14716737A>C | CA443295576 | ANKH | c.1110T>G (p.Pro370=) n.352T>G c.1026T>G (p.Pro342=) | |
| 5 | g.14716737A>G | CA443295575 | ANKH | c.1110T>C (p.Pro370=) n.352T>C c.1026T>C (p.Pro342=) | |
| 5 | g.14716737A>T | CA443295574 | ANKH | c.1110T>A (p.Pro370=) n.352T>A c.1026T>A (p.Pro342=) | |
| 5 | g.14716738G>A | CA359245296 | ANKH | c.1109C>T (p.Pro370Leu) n.351C>T c.1025C>T (p.Pro342Leu) | |
| 5 | g.14716738G>C | CA359245297 | ANKH | c.1109C>G (p.Pro370Arg) n.351C>G c.1025C>G (p.Pro342Arg) | |
| 5 | g.14716738G>T | CA359245298 | ANKH | c.1109C>A (p.Pro370His) n.351C>A c.1025C>A (p.Pro342His) | COSMIC |
| 5 | g.14716739G>A | CA359245299 | ANKH | c.1108C>T (p.Pro370Ser) n.350C>T c.1024C>T (p.Pro342Ser) | COSMIC |
| 5 | g.14716739G>C | CA359245300 | ANKH | c.1108C>G (p.Pro370Ala) n.350C>G c.1024C>G (p.Pro342Ala) | |
| 5 | g.14716739G>T | CA359245301 | ANKH | c.1108C>A (p.Pro370Thr) n.350C>A c.1024C>A (p.Pro342Thr) | |
| 5 | g.14716740A>C | CA443295577 | ANKH | c.1107T>G (p.Val369=) n.349T>G c.1023T>G (p.Val341=) | |
| 5 | g.14716740A>G | CA443295579 | ANKH | c.1107T>C (p.Val369=) n.349T>C c.1023T>C (p.Val341=) | |
| 5 | g.14716740A>T | CA443295578 | ANKH | c.1107T>A (p.Val369=) n.349T>A c.1023T>A (p.Val341=) | |
| 5 | g.14716741A= | CA1528880782 | ANKH | c.1106T= (p.Val369=) n.348T= c.1022T= (p.Val341=) | |
| 5 | g.14716741A>C | CA359245302 | ANKH | c.1106T>G (p.Val369Gly) n.348T>G c.1022T>G (p.Val341Gly) | |
| 5 | g.14716741A>G | CA114720117 | ANKH | c.1106T>C (p.Val369Ala) n.348T>C c.1022T>C (p.Val341Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.14716741A>T | CA359245303 | ANKH | c.1106T>A (p.Val369Asp) n.348T>A c.1022T>A (p.Val341Asp) | |
| 5 | g.14716742C>A | CA359245304 | ANKH | c.1105G>T (p.Val369Phe) n.347G>T c.1021G>T (p.Val341Phe) | |
| 5 | g.14716742C>G | CA359245305 | ANKH | c.1105G>C (p.Val369Leu) n.347G>C c.1021G>C (p.Val341Leu) | |
| 5 | g.14716742C>T | CA359245306 | ANKH | c.1105G>A (p.Val369Ile) n.347G>A c.1021G>A (p.Val341Ile) | |
| 5 | g.14716743A>C | CA443295580 | ANKH | c.1104T>G (p.Val368=) n.346T>G c.1020T>G (p.Val340=) | |
| 5 | g.14716743A>G | CA443295581 | ANKH | c.1104T>C (p.Val368=) n.346T>C c.1020T>C (p.Val340=) | gnomAD v4 |
| 5 | g.14716743A>T | CA443295582 | ANKH | c.1104T>A (p.Val368=) n.346T>A c.1020T>A (p.Val340=) | |
| 5 | g.14716744A= | CA1528880783 | ANKH | c.1103T= (p.Val368=) n.345T= c.1019T= (p.Val340=) | |
| 5 | g.14716744A>C | CA359245307 | ANKH | c.1103T>G (p.Val368Gly) n.345T>G c.1019T>G (p.Val340Gly) | ClinVar dbSNP gnomAD v4 |
| 5 | g.14716744A>G | CA359245309 | ANKH | c.1103T>C (p.Val368Ala) n.345T>C c.1019T>C (p.Val340Ala) | |
| 5 | g.14716744A>T | CA359245308 | ANKH | c.1103T>A (p.Val368Asp) n.345T>A c.1019T>A (p.Val340Asp) | |
| 5 | g.14716747_14716748del | CA2673310462 | ANKH | c.1102_1103del (p.Val368CysfsTer?) n.344_345del c.1018_1019del (p.Val340CysfsTer?) | gnomAD v4 |
| 5 | g.14716745C>A | CA359245310 | ANKH | c.1102G>T (p.Val368Phe) n.344G>T c.1018G>T (p.Val340Phe) | |
| 5 | g.14716745C= | CA1528880784 | ANKH | c.1102G= (p.Val368=) n.344G= c.1018G= (p.Val340=) | |
| 5 | g.14716745C>G | CA359245312 | ANKH | c.1102G>C (p.Val368Leu) n.344G>C c.1018G>C (p.Val340Leu) | |
| 5 | g.14716745C>T | CA359245311 | ANKH | c.1102G>A (p.Val368Ile) n.344G>A c.1018G>A (p.Val340Ile) | dbSNP |
| 5 | g.14716746A>C | CA359245313 | ANKH | c.1101T>G (p.Cys367Trp) n.343T>G c.1017T>G (p.Cys339Trp) | |
| 5 | g.14716746A>G | CA443295583 | ANKH | c.1101T>C (p.Cys367=) n.343T>C c.1017T>C (p.Cys339=) | gnomAD v4 |
| 5 | g.14716746A>T | CA359245314 | ANKH | c.1101T>A (p.Cys367Ter) n.343T>A c.1017T>A (p.Cys339Ter) | |
| 5 | g.14716747C>A | CA359245315 | ANKH | c.1100G>T (p.Cys367Phe) n.342G>T c.1016G>T (p.Cys339Phe) | |
| 5 | g.14716747C>G | CA359245316 | ANKH | c.1100G>C (p.Cys367Ser) n.342G>C c.1016G>C (p.Cys339Ser) | |
| 5 | g.14716747C>T | CA359245317 | ANKH | c.1100G>A (p.Cys367Tyr) n.342G>A c.1016G>A (p.Cys339Tyr) | |
| 5 | g.14716748A>C | CA359245318 | ANKH | c.1099T>G (p.Cys367Gly) n.341T>G c.1015T>G (p.Cys339Gly) | |
| 5 | g.14716748A>G | CA359245319 | ANKH | c.1099T>C (p.Cys367Arg) n.341T>C c.1015T>C (p.Cys339Arg) | |
| 5 | g.14716748A>T | CA359245320 | ANKH | c.1099T>A (p.Cys367Ser) n.341T>A c.1015T>A (p.Cys339Ser) | |
| 5 | g.14716749G>A | CA443295584 | ANKH | c.1098C>T (p.Leu366=) n.340C>T c.1014C>T (p.Leu338=) | |
| 5 | g.14716749G>C | CA443295585 | ANKH | c.1098C>G (p.Leu366=) n.340C>G c.1014C>G (p.Leu338=) | |
| 5 | g.14716749G>T | CA443295586 | ANKH | c.1098C>A (p.Leu366=) n.340C>A c.1014C>A (p.Leu338=) | |
| 5 | g.14716750A>C | CA359245321 | ANKH | c.1097T>G (p.Leu366Arg) n.339T>G c.1013T>G (p.Leu338Arg) | |
| 5 | g.14716750A>G | CA359245322 | ANKH | c.1097T>C (p.Leu366Pro) n.339T>C c.1013T>C (p.Leu338Pro) | |
| 5 | g.14716750A>T | CA359245323 | ANKH | c.1097T>A (p.Leu366His) n.339T>A c.1013T>A (p.Leu338His) | |
| 5 | g.14716751G>A | CA359245324 | ANKH | c.1096C>T (p.Leu366Phe) n.338C>T c.1012C>T (p.Leu338Phe) | |
| 5 | g.14716751G>C | CA359245325 | ANKH | c.1096C>G (p.Leu366Val) n.338C>G c.1012C>G (p.Leu338Val) | |
| 5 | g.14716751G>T | CA359245326 | ANKH | c.1096C>A (p.Leu366Ile) n.338C>A c.1012C>A (p.Leu338Ile) | |
| 5 | g.14716752T>A | CA359245328 | ANKH | c.1095A>T (p.Glu365Asp) n.337A>T c.1011A>T (p.Glu337Asp) | |
| 5 | g.14716752T>C | CA443295587 | ANKH | c.1095A>G (p.Glu365=) n.337A>G c.1011A>G (p.Glu337=) | COSMIC |
| 5 | g.14716752T>G | CA359245327 | ANKH | c.1095A>C (p.Glu365Asp) n.337A>C c.1011A>C (p.Glu337Asp) | |
| 5 | g.14716753T>A | CA359245329 | ANKH | c.1094A>T (p.Glu365Val) n.336A>T c.1010A>T (p.Glu337Val) | |
| 5 | g.14716753T>C | CA359245330 | ANKH | c.1094A>G (p.Glu365Gly) n.336A>G c.1010A>G (p.Glu337Gly) | |
| 5 | g.14716753T>G | CA359245331 | ANKH | c.1094A>C (p.Glu365Ala) n.336A>C c.1010A>C (p.Glu337Ala) | |
| 5 | g.14716754C>A | CA359245332 | ANKH | c.1093G>T (p.Glu365Ter) n.335G>T c.1009G>T (p.Glu337Ter) | |
| 5 | g.14716754C>G | CA359245333 | ANKH | c.1093G>C (p.Glu365Gln) n.335G>C c.1009G>C (p.Glu337Gln) | |
| 5 | g.14716754C>T | CA359245334 | ANKH | c.1093G>A (p.Glu365Lys) n.335G>A c.1009G>A (p.Glu337Lys) | |
| 5 | g.14716755_14716763del | CA2765371440 | ANKH | c.1085_1093del (p.Ala362_Ala364del) n.327_335del c.1001_1009del (p.Ala334_Ala336del) | |
| 5 | g.14716755T>A | CA443295588 | ANKH | c.1092A>T (p.Ala364=) n.334A>T c.1008A>T (p.Ala336=) | |
| 5 | g.14716755T>C | CA443295590 | ANKH | c.1092A>G (p.Ala364=) n.334A>G c.1008A>G (p.Ala336=) | COSMIC |
| 5 | g.14716755T>G | CA443295589 | ANKH | c.1092A>C (p.Ala364=) n.334A>C c.1008A>C (p.Ala336=) | |
| 5 | g.14716756G>A | CA359245335 | ANKH | c.1091C>T (p.Ala364Val) n.333C>T c.1007C>T (p.Ala336Val) | gnomAD v4 |
| 5 | g.14716756G>C | CA3208922 | ANKH | c.1091C>G (p.Ala364Gly) n.333C>G c.1007C>G (p.Ala336Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.14716756G= | CA1528880785 | ANKH | c.1091C= (p.Ala364=) n.333C= c.1007C= (p.Ala336=) | |
| 5 | g.14716756G>T | CA359245336 | ANKH | c.1091C>A (p.Ala364Glu) n.333C>A c.1007C>A (p.Ala336Glu) | |
| 5 | g.14716757C>A | CA359245337 | ANKH | c.1090G>T (p.Ala364Ser) n.332G>T c.1006G>T (p.Ala336Ser) | dbSNP |
| 5 | g.14716757C= | CA1528880786 | ANKH | c.1090G= (p.Ala364=) n.332G= c.1006G= (p.Ala336=) | |
| 5 | g.14716757C>G | CA359245338 | ANKH | c.1090G>C (p.Ala364Pro) n.332G>C c.1006G>C (p.Ala336Pro) | |
| 5 | g.14716757C>T | CA359245339 | ANKH | c.1090G>A (p.Ala364Thr) n.332G>A c.1006G>A (p.Ala336Thr) | |
| 5 | g.14716758A>C | CA359245341 | ANKH | c.1089T>G (p.Phe363Leu) n.331T>G c.1005T>G (p.Phe335Leu) | |
| 5 | g.14716758A>G | CA443295591 | ANKH | c.1089T>C (p.Phe363=) n.331T>C c.1005T>C (p.Phe335=) | |
| 5 | g.14716758A>T | CA359245340 | ANKH | c.1089T>A (p.Phe363Leu) n.331T>A c.1005T>A (p.Phe335Leu) | |
| 5 | g.14716759A>C | CA359245342 | ANKH | c.1088T>G (p.Phe363Cys) n.330T>G c.1004T>G (p.Phe335Cys) | |
| 5 | g.14716759A>G | CA359245343 | ANKH | c.1088T>C (p.Phe363Ser) n.330T>C c.1004T>C (p.Phe335Ser) | |
| 5 | g.14716759A>T | CA359245344 | ANKH | c.1088T>A (p.Phe363Tyr) n.330T>A c.1004T>A (p.Phe335Tyr) | |
| 5 | g.14716760A>C | CA359245345 | ANKH | c.1087T>G (p.Phe363Val) n.329T>G c.1003T>G (p.Phe335Val) | |
| 5 | g.14716760A>G | CA359245346 | ANKH | c.1087T>C (p.Phe363Leu) n.329T>C c.1003T>C (p.Phe335Leu) | |
| 5 | g.14716760A>T | CA359245347 | ANKH | c.1087T>A (p.Phe363Ile) n.329T>A c.1003T>A (p.Phe335Ile) | |
| 5 | g.14716761G>A | CA3208923 | ANKH | c.1086C>T (p.Ala362=) n.328C>T c.1002C>T (p.Ala334=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.14716761G>C | CA443295592 | ANKH | c.1086C>G (p.Ala362=) n.328C>G c.1002C>G (p.Ala334=) | gnomAD v4 |
| 5 | g.14716761G= | CA1528880787 | ANKH | c.1086C= (p.Ala362=) n.328C= c.1002C= (p.Ala334=) | |
| 5 | g.14716761G>T | CA443295593 | ANKH | c.1086C>A (p.Ala362=) n.328C>A c.1002C>A (p.Ala334=) | |
| 5 | g.14716762G>A | CA359245348 | ANKH | c.1085C>T (p.Ala362Val) n.327C>T c.1001C>T (p.Ala334Val) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.14716762G>C | CA359245349 | ANKH | c.1085C>G (p.Ala362Gly) n.327C>G c.1001C>G (p.Ala334Gly) | |
| 5 | g.14716762G= | CA1528880788 | ANKH | c.1085C= (p.Ala362=) n.327C= c.1001C= (p.Ala334=) | |
| 5 | g.14716762G>T | CA3208924 | ANKH | c.1085C>A (p.Ala362Asp) n.327C>A c.1001C>A (p.Ala334Asp) | dbSNP ExAC gnomAD v2 |
| 5 | g.14716763C>A | CA359245350 | ANKH | c.1084G>T (p.Ala362Ser) n.326G>T c.1000G>T (p.Ala334Ser) | |
| 5 | g.14716763C>G | CA359245351 | ANKH | c.1084G>C (p.Ala362Pro) n.326G>C c.1000G>C (p.Ala334Pro) | |
| 5 | g.14716763C>T | CA359245352 | ANKH | c.1084G>A (p.Ala362Thr) n.326G>A c.1000G>A (p.Ala334Thr) | |
| 5 | g.14716764A= | CA1528880789 | ANKH | c.1083T= (p.Phe361=) n.325T= c.999T= (p.Phe333=) | |
| 5 | g.14716764A>C | CA359245354 | ANKH | c.1083T>G (p.Phe361Leu) n.325T>G c.999T>G (p.Phe333Leu) | ClinVar gnomAD v4 |
| 5 | g.14716764A>G | CA443295594 | ANKH | c.1083T>C (p.Phe361=) n.325T>C c.999T>C (p.Phe333=) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.14716764A>T | CA359245353 | ANKH | c.1083T>A (p.Phe361Leu) n.325T>A c.999T>A (p.Phe333Leu) | |
| 5 | g.14716765A>C | CA359245355 | ANKH | c.1082T>G (p.Phe361Cys) n.324T>G c.998T>G (p.Phe333Cys) | |
| 5 | g.14716765A>G | CA359245356 | ANKH | c.1082T>C (p.Phe361Ser) n.324T>C c.998T>C (p.Phe333Ser) | |
| 5 | g.14716765A>T | CA359245357 | ANKH | c.1082T>A (p.Phe361Tyr) n.324T>A c.998T>A (p.Phe333Tyr) | |
| 5 | g.14716766A>C | CA359245358 | ANKH | c.1081T>G (p.Phe361Val) n.323T>G c.997T>G (p.Phe333Val) | |
| 5 | g.14716766A>G | CA359245359 | ANKH | c.1081T>C (p.Phe361Leu) n.323T>C c.997T>C (p.Phe333Leu) | |
| 5 | g.14716766A>T | CA359245360 | ANKH | c.1081T>A (p.Phe361Ile) n.323T>A c.997T>A (p.Phe333Ile) | |
| 5 | g.14716767G>A | CA3208925 | ANKH | c.1080C>T (p.Asp360=) n.322C>T c.996C>T (p.Asp332=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.14716767G>C | CA359245361 | ANKH | c.1080C>G (p.Asp360Glu) n.322C>G c.996C>G (p.Asp332Glu) | dbSNP gnomAD v4 |
| 5 | g.14716767G= | CA1528880790 | ANKH | c.1080C= (p.Asp360=) n.322C= c.996C= (p.Asp332=) | |
| 5 | g.14716767G>T | CA359245362 | ANKH | c.1080C>A (p.Asp360Glu) n.322C>A c.996C>A (p.Asp332Glu) | |
| 5 | g.14716768T>A | CA359245363 | ANKH | c.1079A>T (p.Asp360Val) n.321A>T c.995A>T (p.Asp332Val) | |
| 5 | g.14716768T>C | CA359245364 | ANKH | c.1079A>G (p.Asp360Gly) n.321A>G c.995A>G (p.Asp332Gly) | |
| 5 | g.14716768T>G | CA359245365 | ANKH | c.1079A>C (p.Asp360Ala) n.321A>C c.995A>C (p.Asp332Ala) | |
| 5 | g.14716769C>A | CA359245368 | ANKH | c.1078G>T (p.Asp360Tyr) n.320G>T c.994G>T (p.Asp332Tyr) | |
| 5 | g.14716769C>G | CA359245367 | ANKH | c.1078G>C (p.Asp360His) n.320G>C c.994G>C (p.Asp332His) | |
| 5 | g.14716769C>T | CA359245366 | ANKH | c.1078G>A (p.Asp360Asn) n.320G>A c.994G>A (p.Asp332Asn) | gnomAD v4 |
| 5 | g.14716770C>A | CA443295595 | ANKH | c.1077G>T (p.Val359=) n.319G>T c.993G>T (p.Val331=) | |
| 5 | g.14716770C>G | CA443295596 | ANKH | c.1077G>C (p.Val359=) n.319G>C c.993G>C (p.Val331=) | |
| 5 | g.14716770C>T | CA443295597 | ANKH | c.1077G>A (p.Val359=) n.319G>A c.993G>A (p.Val331=) | |
| 5 | g.14716771A= | CA1528880791 | ANKH | c.1076T= (p.Val359=) n.318T= c.992T= (p.Val331=) | |
| 5 | g.14716771A>C | CA359245369 | ANKH | c.1076T>G (p.Val359Gly) n.318T>G c.992T>G (p.Val331Gly) | |
| 5 | g.14716771A>G | CA3208926 | ANKH | c.1076T>C (p.Val359Ala) n.318T>C c.992T>C (p.Val331Ala) | dbSNP ExAC gnomAD v2 |
| 5 | g.14716771A>T | CA359245370 | ANKH | c.1076T>A (p.Val359Glu) n.318T>A c.992T>A (p.Val331Glu) | |
| 5 | g.14716772C>A | CA359245371 | ANKH | c.1075G>T (p.Val359Leu) n.317G>T c.991G>T (p.Val331Leu) | |
| 5 | g.14716772C>G | CA359245372 | ANKH | c.1075G>C (p.Val359Leu) n.317G>C c.991G>C (p.Val331Leu) | |
| 5 | g.14716772C>T | CA359245373 | ANKH | c.1075G>A (p.Val359Met) n.317G>A c.991G>A (p.Val331Met) | |
| 5 | g.14716773T>A | CA443295598 | ANKH | c.1074A>T (p.Gly358=) n.316A>T c.990A>T (p.Gly330=) | |
| 5 | g.14716773T>C | CA443295599 | ANKH | c.1074A>G (p.Gly358=) n.316A>G c.990A>G (p.Gly330=) | |
| 5 | g.14716773T>G | CA443295600 | ANKH | c.1074A>C (p.Gly358=) n.316A>C c.990A>C (p.Gly330=) | |
| 5 | g.14716774C>A | CA359245374 | ANKH | c.1073G>T (p.Gly358Val) n.315G>T c.989G>T (p.Gly330Val) | |
| 5 | g.14716774C>G | CA359245375 | ANKH | c.1073G>C (p.Gly358Ala) n.315G>C c.989G>C (p.Gly330Ala) | |
| 5 | g.14716774C>T | CA359245376 | ANKH | c.1073G>A (p.Gly358Glu) n.315G>A c.989G>A (p.Gly330Glu) | |
| 5 | g.14716775C>A | CA359245377 | ANKH | c.1072G>T (p.Gly358Ter) n.314G>T c.988G>T (p.Gly330Ter) | |
| 5 | g.14716775C= | CA1528880792 | ANKH | c.1072G= (p.Gly358=) n.314G= c.988G= (p.Gly330=) | |
| 5 | g.14716775C>G | CA359245378 | ANKH | c.1072G>C (p.Gly358Arg) n.314G>C c.988G>C (p.Gly330Arg) | |
| 5 | g.14716775C>T | CA359245379 | ANKH | c.1072G>A (p.Gly358Arg) n.314G>A c.988G>A (p.Gly330Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.14716775_14716778delinsCGAT | CA1528880793 | ANKH | c.1069_1072delinsATCG (p.Ile357=) n.311_314delinsATCG c.985_988delinsATCG (p.Ile329=) | |
| 5 | g.14716776G>A | CA10620520 | ANKH | c.1071C>T (p.Ile357=) n.313C>T c.987C>T (p.Ile329=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.14716776G>C | CA359245380 | ANKH | c.1071C>G (p.Ile357Met) n.313C>G c.987C>G (p.Ile329Met) | |
| 5 | g.14716776G= | CA1528880794 | ANKH | c.1071C= (p.Ile357=) n.313C= c.987C= (p.Ile329=) | |
| 5 | g.14716776G>T | CA443295601 | ANKH | c.1071C>A (p.Ile357=) n.313C>A c.987C>A (p.Ile329=) | ClinVar dbSNP |
| 5 | g.14716780_14716782del | CA805272647 | ANKH | c.1069_1071del (p.Ile357del) n.311_313del c.985_987del (p.Ile329del) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.14716777A= | CA1528880795 | ANKH | c.1070T= (p.Ile357=) n.312T= c.986T= (p.Ile329=) | |
| 5 | g.14716777A>C | CA359245382 | ANKH | c.1070T>G (p.Ile357Ser) n.312T>G c.986T>G (p.Ile329Ser) | |
| 5 | g.14716777A>G | CA3208927 | ANKH | c.1070T>C (p.Ile357Thr) n.312T>C c.986T>C (p.Ile329Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.14716777A>T | CA359245381 | ANKH | c.1070T>A (p.Ile357Asn) n.312T>A c.986T>A (p.Ile329Asn) | gnomAD v4 |
| 5 | g.14716778T>A | CA359245383 | ANKH | c.1069A>T (p.Ile357Phe) n.311A>T c.985A>T (p.Ile329Phe) | |
| 5 | g.14716778T>C | CA359245384 | ANKH | c.1069A>G (p.Ile357Val) n.311A>G c.985A>G (p.Ile329Val) | |
| 5 | g.14716778T>G | CA359245385 | ANKH | c.1069A>C (p.Ile357Leu) n.311A>C c.985A>C (p.Ile329Leu) | |
| 5 | g.14716779G>A | CA443295602 | ANKH | c.1068C>T (p.Ile356=) n.310C>T c.984C>T (p.Ile328=) | |
| 5 | g.14716779G>C | CA359245386 | ANKH | c.1068C>G (p.Ile356Met) n.310C>G c.984C>G (p.Ile328Met) | |
| 5 | g.14716779G= | CA1528880796 | ANKH | c.1068C= (p.Ile356=) n.310C= c.984C= (p.Ile328=) | |
| 5 | g.14716779G>T | CA3208928 | ANKH | c.1068C>A (p.Ile356=) n.310C>A c.984C>A (p.Ile328=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.14716780A= | CA1528880797 | ANKH | c.1067T= (p.Ile356=) n.309T= c.983T= (p.Ile328=) | |
| 5 | g.14716780A>C | CA359245387 | ANKH | c.1067T>G (p.Ile356Ser) n.309T>G c.983T>G (p.Ile328Ser) | |
| 5 | g.14716780A>G | CA359245388 | ANKH | c.1067T>C (p.Ile356Thr) n.309T>C c.983T>C (p.Ile328Thr) | |
| 5 | g.14716780A>T | CA359245389 | ANKH | c.1067T>A (p.Ile356Asn) n.309T>A c.983T>A (p.Ile328Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.14716781T>A | CA359245390 | ANKH | c.1066A>T (p.Ile356Phe) n.308A>T c.982A>T (p.Ile328Phe) | |
| 5 | g.14716781T>C | CA359245391 | ANKH | c.1066A>G (p.Ile356Val) n.308A>G c.982A>G (p.Ile328Val) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.14716781T>G | CA359245392 | ANKH | c.1066A>C (p.Ile356Leu) n.308A>C c.982A>C (p.Ile328Leu) | |
| 5 | g.14716781T= | CA1528880798 | ANKH | c.1066A= (p.Ile356=) n.308A= c.982A= (p.Ile328=) | |
| 5 | g.14716782G>A | CA443295603 | ANKH | c.1065C>T (p.Asp355=) n.307C>T c.981C>T (p.Asp327=) | |
| 5 | g.14716782G>C | CA359245394 | ANKH | c.1065C>G (p.Asp355Glu) n.307C>G c.981C>G (p.Asp327Glu) | |
| 5 | g.14716782G>T | CA359245393 | ANKH | c.1065C>A (p.Asp355Glu) n.307C>A c.981C>A (p.Asp327Glu) | |
| 5 | g.14716783T>A | CA359245395 | ANKH | c.1064A>T (p.Asp355Val) n.306A>T c.980A>T (p.Asp327Val) | |
| 5 | g.14716783T>C | CA359245396 | ANKH | c.1064A>G (p.Asp355Gly) n.306A>G c.980A>G (p.Asp327Gly) | gnomAD v4 |
| 5 | g.14716783T>G | CA359245397 | ANKH | c.1064A>C (p.Asp355Ala) n.306A>C c.980A>C (p.Asp327Ala) | |
| 5 | g.14716784C>A | CA359245398 | ANKH | c.1063G>T (p.Asp355Tyr) n.305G>T c.979G>T (p.Asp327Tyr) | |
| 5 | g.14716784C= | CA1528880799 | ANKH | c.1063G= (p.Asp355=) n.305G= c.979G= (p.Asp327=) | |
| 5 | g.14716784C>G | CA359245399 | ANKH | c.1063G>C (p.Asp355His) n.305G>C c.979G>C (p.Asp327His) | ClinVar |
| 5 | g.14716784C>T | CA359245400 | ANKH | c.1063G>A (p.Asp355Asn) n.305G>A c.979G>A (p.Asp327Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.14716785T>A | CA443295604 | ANKH | c.1062A>T (p.Ile354=) n.304A>T c.978A>T (p.Ile326=) | |
| 5 | g.14716785T>C | CA359245401 | ANKH | c.1062A>G (p.Ile354Met) n.304A>G c.978A>G (p.Ile326Met) | gnomAD v4 |
| 5 | g.14716785T>G | CA443295605 | ANKH | c.1062A>C (p.Ile354=) n.304A>C c.978A>C (p.Ile326=) | |
| 5 | g.14716786A= | CA1528880800 | ANKH | c.1061T= (p.Ile354=) n.303T= c.977T= (p.Ile326=) | |
| 5 | g.14716786A>C | CA359245402 | ANKH | c.1061T>G (p.Ile354Arg) n.303T>G c.977T>G (p.Ile326Arg) | |
| 5 | g.14716786A>G | CA3208929 | ANKH | c.1061T>C (p.Ile354Thr) n.303T>C c.977T>C (p.Ile326Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.14716786A>T | CA359245403 | ANKH | c.1061T>A (p.Ile354Lys) n.303T>A c.977T>A (p.Ile326Lys) | |
| 5 | g.14716787T>A | CA359245404 | ANKH | c.1060A>T (p.Ile354Leu) n.302A>T c.976A>T (p.Ile326Leu) | |
| 5 | g.14716787T>C | CA359245405 | ANKH | c.1060A>G (p.Ile354Val) n.302A>G c.976A>G (p.Ile326Val) | |
| 5 | g.14716787T>G | CA359245406 | ANKH | c.1060A>C (p.Ile354Leu) n.302A>C c.976A>C (p.Ile326Leu) | |
| 5 | g.14716788C>A | CA359245408 | ANKH | c.1059G>T (p.Leu353Phe) n.301G>T c.975G>T (p.Leu325Phe) | |
| 5 | g.14716788C>G | CA359245407 | ANKH | c.1059G>C (p.Leu353Phe) n.301G>C c.975G>C (p.Leu325Phe) | |
| 5 | g.14716788C>T | CA443295606 | ANKH | c.1059G>A (p.Leu353=) n.301G>A c.975G>A (p.Leu325=) | |
| 5 | g.14716789A>C | CA359245409 | ANKH | c.1058T>G (p.Leu353Trp) n.300T>G c.974T>G (p.Leu325Trp) | |
| 5 | g.14716789A>G | CA359245410 | ANKH | c.1058T>C (p.Leu353Ser) n.300T>C c.974T>C (p.Leu325Ser) | |
| 5 | g.14716789A>T | CA359245411 | ANKH | c.1058T>A (p.Leu353Ter) n.300T>A c.974T>A (p.Leu325Ter) | |
| 5 | g.14716790A>C | CA359245412 | ANKH | c.1057T>G (p.Leu353Val) n.299T>G c.973T>G (p.Leu325Val) | |
| 5 | g.14716790A>G | CA443295607 | ANKH | c.1057T>C (p.Leu353=) n.299T>C c.973T>C (p.Leu325=) | dbSNP |
| 5 | g.14716790A>T | CA359245413 | ANKH | c.1057T>A (p.Leu353Met) n.299T>A c.973T>A (p.Leu325Met) | |
| 5 | g.14716791G>A | CA443295608 | ANKH | c.1056C>T (p.Ile352=) n.298C>T c.972C>T (p.Ile324=) | |
| 5 | g.14716791G>C | CA359245414 | ANKH | c.1056C>G (p.Ile352Met) n.298C>G c.972C>G (p.Ile324Met) | |
| 5 | g.14716791G>T | CA443295609 | ANKH | c.1056C>A (p.Ile352=) n.298C>A c.972C>A (p.Ile324=) | |
| 5 | g.14716792A>C | CA359245415 | ANKH | c.1055T>G (p.Ile352Ser) n.297T>G c.971T>G (p.Ile324Ser) | |
| 5 | g.14716792A>G | CA359245416 | ANKH | c.1055T>C (p.Ile352Thr) n.297T>C c.971T>C (p.Ile324Thr) | |
| 5 | g.14716792A>T | CA359245417 | ANKH | c.1055T>A (p.Ile352Asn) n.297T>A c.971T>A (p.Ile324Asn) | |
| 5 | g.14716793T>A | CA359245418 | ANKH | c.1054A>T (p.Ile352Phe) n.296A>T c.970A>T (p.Ile324Phe) | |
| 5 | g.14716793T>C | CA359245419 | ANKH | c.1054A>G (p.Ile352Val) n.296A>G c.970A>G (p.Ile324Val) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.14716793T>G | CA359245420 | ANKH | c.1054A>C (p.Ile352Leu) n.296A>C c.970A>C (p.Ile324Leu) | |
| 5 | g.14716793T= | CA1528880801 | ANKH | c.1054A= (p.Ile352=) n.296A= c.970A= (p.Ile324=) | |
| 5 | g.14716794T>A | CA359245421 | ANKH | c.1053A>T (p.Lys351Asn) n.295A>T c.969A>T (p.Lys323Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.14716794T>C | CA443295610 | ANKH | c.1053A>G (p.Lys351=) n.295A>G c.969A>G (p.Lys323=) | |
| 5 | g.14716794T>G | CA359245422 | ANKH | c.1053A>C (p.Lys351Asn) n.295A>C c.969A>C (p.Lys323Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.14716794T= | CA1528880802 | ANKH | c.1053A= (p.Lys351=) n.295A= c.969A= (p.Lys323=) |