Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.240868866_240871449del | CA2741808836 | AGXT | c.1_524del n.21_544del | ClinVar |
2 | g.240868952_240868999delinsGTCTCACCCATGTTCCCACCCACA | CA2580614120 | AGXT | c.87_134delinsGTCTCACCCATGTTCCCACCCACA (p.Pro30_Met45delinsSerHisProCysSerHisProGln) n.107_154delinsGTCTCACCCATGTTCCCACCCACA n.405+1234_405+1281delinsTGTGGGTGGGAACATGGGTGAGAC | ClinVar |
2 | g.240868991dup | CA658821243 | AGXT | c.126dup (p.Leu43AlafsTer?) n.146dup n.405+1247dup | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.240868991del | CA275817 | AGXT | c.126del (p.Leu43CysfsTer3) n.146del n.405+1247del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
2 | g.240868990G>A | CA275631 | AGXT | c.125G>A (p.Gly42Glu) n.145G>A n.405+1243C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240868990G>C | CA351313184 | AGXT | c.125G>C (p.Gly42Ala) n.145G>C n.405+1243C>G | |
2 | g.240868990G= | CA1339330801 | AGXT | c.125G= (p.Gly42=) n.145G= n.405+1243C= | |
2 | g.240868990G>T | CA351313185 | AGXT | c.125G>T (p.Gly42Val) n.145G>T n.405+1243C>A | |
2 | g.240868991G>A | CA432235020 | AGXT | c.126G>A (p.Gly42=) n.146G>A n.405+1242C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.240868991G>C | CA432235021 | AGXT | c.126G>C (p.Gly42=) n.146G>C n.405+1242C>G | ClinVar |
2 | g.240868991G= | CA1339330802 | AGXT | c.126G= (p.Gly42=) n.146G= n.405+1242C= | |
2 | g.240868991G>T | CA432235022 | AGXT | c.126G>T (p.Gly42=) n.146G>T n.405+1242C>A | gnomAD v4 |
2 | g.240868992C>A | CA351313190 | AGXT | c.127C>A (p.Leu43Met) n.147C>A n.405+1241G>T | |
2 | g.240868992C>G | CA351313188 | AGXT | c.127C>G (p.Leu43Val) n.147C>G n.405+1241G>C | |
2 | g.240868992C>T | CA432235026 | AGXT | c.127C>T (p.Leu43=) n.147C>T n.405+1241G>A | |
2 | g.240868993T>A | CA2208983 | AGXT | c.128T>A (p.Leu43Gln) n.148T>A n.405+1240A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240868993T>C | CA351313191 | AGXT | c.128T>C (p.Leu43Pro) n.148T>C n.405+1240A>G | gnomAD v4 |
2 | g.240868993T>G | CA351313193 | AGXT | c.128T>G (p.Leu43Arg) n.148T>G n.405+1240A>C | dbSNP gnomAD v4 |
2 | g.240868993T= | CA1339330803 | AGXT | c.128T= (p.Leu43=) n.148T= n.405+1240A= | |
2 | g.240868994G>A | CA432235029 | AGXT | c.129G>A (p.Leu43=) n.149G>A n.405+1239C>T | gnomAD v4 |
2 | g.240868994G>C | CA432235030 | AGXT | c.129G>C (p.Leu43=) n.149G>C n.405+1239C>G | |
2 | g.240868994G>T | CA432235031 | AGXT | c.129G>T (p.Leu43=) n.149G>T n.405+1239C>A | |
2 | g.240868995C>A | CA351313196 | AGXT | c.130C>A (p.Gln44Lys) n.150C>A n.405+1238G>T | |
2 | g.240868995C= | CA1339330804 | AGXT | c.130C= (p.Gln44=) n.150C= n.405+1238G= | |
2 | g.240868995C>G | CA351313197 | AGXT | c.130C>G (p.Gln44Glu) n.150C>G n.405+1238G>C | |
2 | g.240868995C>T | CA275633 | AGXT | c.130C>T (p.Gln44Ter) n.150C>T n.405+1238G>A | ClinVar dbSNP gnomAD v4 |
2 | g.240868996A>C | CA351313200 | AGXT | c.131A>C (p.Gln44Pro) n.151A>C n.405+1237T>G | |
2 | g.240868996A>G | CA351313202 | AGXT | c.131A>G (p.Gln44Arg) n.151A>G n.405+1237T>C | |
2 | g.240868996A>T | CA351313203 | AGXT | c.131A>T (p.Gln44Leu) n.151A>T n.405+1237T>A | |
2 | g.240868997G>A | CA432234636 | AGXT | c.132G>A (p.Gln44=) n.152G>A n.405+1236C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240868997G>C | CA351313205 | AGXT | c.132G>C (p.Gln44His) n.152G>C n.405+1236C>G | |
2 | g.240868997G= | CA1339330805 | AGXT | c.132G= (p.Gln44=) n.152G= n.405+1236C= | |
2 | g.240868997G>T | CA351313207 | AGXT | c.132G>T (p.Gln44His) n.152G>T n.405+1236C>A | |
2 | g.240868998A>C | CA351313213 | AGXT | c.133A>C (p.Met45Leu) n.153A>C n.405+1235T>G | COSMIC |
2 | g.240868998A>G | CA351313211 | AGXT | c.133A>G (p.Met45Val) n.153A>G n.405+1235T>C | gnomAD v4 |
2 | g.240868998A>T | CA351313209 | AGXT | c.133A>T (p.Met45Leu) n.153A>T n.405+1235T>A | |
2 | g.240868999T>A | CA351313214 | AGXT | c.134T>A (p.Met45Lys) n.154T>A n.405+1234A>T | |
2 | g.240868999T>C | CA351313216 | AGXT | c.134T>C (p.Met45Thr) n.154T>C n.405+1234A>G | gnomAD v4 |
2 | g.240868999T>G | CA351313218 | AGXT | c.134T>G (p.Met45Arg) n.154T>G n.405+1234A>C | |
2 | g.240869000G>A | CA351313220 | AGXT | c.135G>A (p.Met45Ile) n.155G>A n.405+1233C>T | |
2 | g.240869000G>C | CA351313222 | AGXT | c.135G>C (p.Met45Ile) n.155G>C n.405+1233C>G | |
2 | g.240869000G>T | CA351313224 | AGXT | c.135G>T (p.Met45Ile) n.155G>T n.405+1233C>A | |
2 | g.240869001A>C | CA351313229 | AGXT | c.136A>C (p.Ile46Leu) n.156A>C n.405+1232T>G | |
2 | g.240869001A>G | CA351313226 | AGXT | c.136A>G (p.Ile46Val) n.156A>G n.405+1232T>C | |
2 | g.240869001A>T | CA351313227 | AGXT | c.136A>T (p.Ile46Phe) n.156A>T n.405+1232T>A | COSMIC |
2 | g.240869002T>A | CA351313231 | AGXT | c.137T>A (p.Ile46Asn) n.157T>A n.405+1231A>T | |
2 | g.240869002T>C | CA2208984 | AGXT | c.137T>C (p.Ile46Thr) n.157T>C n.405+1231A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.240869002T>G | CA351313233 | AGXT | c.137T>G (p.Ile46Ser) n.157T>G n.405+1231A>C | |
2 | g.240869002T= | CA1339330806 | AGXT | c.137T= (p.Ile46=) n.157T= n.405+1231A= | |
2 | g.240869003C>A | CA432234638 | AGXT | c.138C>A (p.Ile46=) n.158C>A n.405+1230G>T | |
2 | g.240869003C= | CA1339330807 | AGXT | c.138C= (p.Ile46=) n.158C= n.405+1230G= | |
2 | g.240869003C>G | CA351313236 | AGXT | c.138C>G (p.Ile46Met) n.158C>G n.405+1230G>C | gnomAD v4 |
2 | g.240869003C>T | CA2208985 | AGXT | c.138C>T (p.Ile46=) n.158C>T n.405+1230G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240869004G>A | CA275636 | AGXT | c.139G>A (p.Gly47Arg) n.159G>A n.405+1229C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.240869004G>C | CA2208986 | AGXT | c.139G>C (p.Gly47Arg) n.159G>C n.405+1229C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.240869004G= | CA1339330808 | AGXT | c.139G= (p.Gly47=) n.159G= n.405+1229C= | |
2 | g.240869004G>T | CA351313239 | AGXT | c.139G>T (p.Gly47Trp) n.159G>T n.405+1229C>A | ClinVar dbSNP |
2 | g.240869005G>A | CA351313242 | AGXT | c.140G>A (p.Gly47Glu) n.160G>A n.405+1228C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.240869005G>C | CA351313244 | AGXT | c.140G>C (p.Gly47Ala) n.160G>C n.405+1228C>G | |
2 | g.240869005G= | CA1339330809 | AGXT | c.140G= (p.Gly47=) n.160G= n.405+1228C= | |
2 | g.240869005G>T | CA351313246 | AGXT | c.140G>T (p.Gly47Val) n.160G>T n.405+1228C>A | dbSNP gnomAD v3 gnomAD v4 |
2 | g.240869006G>A | CA432234640 | AGXT | c.141G>A (p.Gly47=) n.161G>A n.405+1227C>T | |
2 | g.240869006G>C | CA432234641 | AGXT | c.141G>C (p.Gly47=) n.161G>C n.405+1227C>G | |
2 | g.240869006G>T | CA432234643 | AGXT | c.141G>T (p.Gly47=) n.161G>T n.405+1227C>A | |
2 | g.240869007T>A | CA351313248 | AGXT | c.142T>A (p.Ser48Thr) n.162T>A n.405+1226A>T | |
2 | g.240869007T>C | CA351313250 | AGXT | c.142T>C (p.Ser48Pro) n.162T>C n.405+1226A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240869007T>G | CA351313252 | AGXT | c.142T>G (p.Ser48Ala) n.162T>G n.405+1226A>C | |
2 | g.240869007T= | CA1339330810 | AGXT | c.142T= (p.Ser48=) n.162T= n.405+1226A= | |
2 | g.240869008C>A | CA351313254 | AGXT | c.143C>A (p.Ser48Tyr) n.163C>A n.405+1225G>T | |
2 | g.240869008C= | CA1339330811 | AGXT | c.143C= (p.Ser48=) n.163C= n.405+1225G= | |
2 | g.240869008C>G | CA351313256 | AGXT | c.143C>G (p.Ser48Cys) n.163C>G n.405+1225G>C | |
2 | g.240869008C>T | CA351313258 | AGXT | c.143C>T (p.Ser48Phe) n.163C>T n.405+1225G>A | dbSNP |
2 | g.240869009C>A | CA432234644 | AGXT | c.144C>A (p.Ser48=) n.164C>A n.405+1224G>T | |
2 | g.240869009C= | CA1339330812 | AGXT | c.144C= (p.Ser48=) n.164C= n.405+1224G= | |
2 | g.240869009C>G | CA432234645 | AGXT | c.144C>G (p.Ser48=) n.164C>G n.405+1224G>C | |
2 | g.240869009C>T | CA2208987 | AGXT | c.144C>T (p.Ser48=) n.164C>T n.405+1224G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.240869010A= | CA1339330813 | AGXT | c.145A= (p.Met49=) n.165A= n.405+1223T= | |
2 | g.240869010A>C | CA2208988 | AGXT | c.145A>C (p.Met49Leu) n.165A>C n.405+1223T>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240869010A>G | CA351313260 | AGXT | c.145A>G (p.Met49Val) n.165A>G n.405+1223T>C | dbSNP gnomAD v4 |
2 | g.240869010A>T | CA351313262 | AGXT | c.145A>T (p.Met49Leu) n.165A>T n.405+1223T>A | gnomAD v4 |
2 | g.240869011T>A | CA351313264 | AGXT | c.146T>A (p.Met49Lys) n.166T>A n.405+1222A>T | |
2 | g.240869011T>C | CA351313267 | AGXT | c.146T>C (p.Met49Thr) n.166T>C n.405+1222A>G | dbSNP |
2 | g.240869011T>G | CA351313265 | AGXT | c.146T>G (p.Met49Arg) n.166T>G n.405+1222A>C | gnomAD v4 |
2 | g.240869011T= | CA1339330814 | AGXT | c.146T= (p.Met49=) n.166T= n.405+1222A= | |
2 | g.240869012G>A | CA351313269 | AGXT | c.147G>A (p.Met49Ile) n.167G>A n.405+1221C>T | dbSNP |
2 | g.240869012G>C | CA351313271 | AGXT | c.147G>C (p.Met49Ile) n.167G>C n.405+1221C>G | |
2 | g.240869012G= | CA1339330815 | AGXT | c.147G= (p.Met49=) n.167G= n.405+1221C= | |
2 | g.240869012G>T | CA351313272 | AGXT | c.147G>T (p.Met49Ile) n.167G>T n.405+1221C>A | gnomAD v4 |
2 | g.240869013A>C | CA351313275 | AGXT | c.148A>C (p.Ser50Arg) n.168A>C n.405+1220T>G | |
2 | g.240869013A>G | CA351313276 | AGXT | c.148A>G (p.Ser50Gly) n.168A>G n.405+1220T>C | |
2 | g.240869013A>T | CA351313278 | AGXT | c.148A>T (p.Ser50Cys) n.168A>T n.405+1220T>A | |
2 | g.240869014G>A | CA351313284 | AGXT | c.149G>A (p.Ser50Asn) n.169G>A n.405+1219C>T | |
2 | g.240869014G>C | CA351313280 | AGXT | c.149G>C (p.Ser50Thr) n.169G>C n.405+1219C>G | |
2 | g.240869014G>T | CA351313282 | AGXT | c.149G>T (p.Ser50Ile) n.169G>T n.405+1219C>A | |
2 | g.240869015C>A | CA351313286 | AGXT | c.150C>A (p.Ser50Arg) n.170C>A n.405+1218G>T | |
2 | g.240869015C>G | CA351313288 | AGXT | c.150C>G (p.Ser50Arg) n.170C>G n.405+1218G>C | |
2 | g.240869015C>T | CA432234651 | AGXT | c.150C>T (p.Ser50=) n.170C>T n.405+1218G>A | |
2 | g.240869016A>C | CA351313290 | AGXT | c.151A>C (p.Lys51Gln) n.171A>C n.405+1217T>G | |
2 | g.240869016A>G | CA351313292 | AGXT | c.151A>G (p.Lys51Glu) n.171A>G n.405+1217T>C | |
2 | g.240869016A>T | CA351313293 | AGXT | c.151A>T (p.Lys51Ter) n.171A>T n.405+1217T>A | |
2 | g.240869017A>C | CA351313294 | AGXT | c.152A>C (p.Lys51Thr) n.172A>C n.405+1216T>G | |
2 | g.240869017A>G | CA351313296 | AGXT | c.152A>G (p.Lys51Arg) n.172A>G n.405+1216T>C | |
2 | g.240869017A>T | CA351313295 | AGXT | c.152A>T (p.Lys51Met) n.172A>T n.405+1216T>A | |
2 | g.240869018G>A | CA432234652 | AGXT | c.153G>A (p.Lys51=) n.173G>A n.405+1215C>T | COSMIC |
2 | g.240869018G>C | CA351313297 | AGXT | c.153G>C (p.Lys51Asn) n.173G>C n.405+1215C>G | |
2 | g.240869018G>T | CA351313298 | AGXT | c.153G>T (p.Lys51Asn) n.173G>T n.405+1215C>A | |
2 | g.240869019G>A | CA351313299 | AGXT | c.154G>A (p.Asp52Asn) n.174G>A n.405+1214C>T | gnomAD v4 COSMIC |
2 | g.240869019G>C | CA351313300 | AGXT | c.154G>C (p.Asp52His) n.174G>C n.405+1214C>G | dbSNP gnomAD v3 gnomAD v4 |
2 | g.240869019G= | CA1339330816 | AGXT | c.154G= (p.Asp52=) n.174G= n.405+1214C= | |
2 | g.240869019G>T | CA351313301 | AGXT | c.154G>T (p.Asp52Tyr) n.174G>T n.405+1214C>A | |
2 | g.240869020A>C | CA351313302 | AGXT | c.155A>C (p.Asp52Ala) n.175A>C n.405+1213T>G | |
2 | g.240869020A>G | CA351313303 | AGXT | c.155A>G (p.Asp52Gly) n.175A>G n.405+1213T>C | |
2 | g.240869020A>T | CA351313304 | AGXT | c.155A>T (p.Asp52Val) n.175A>T n.405+1213T>A | |
2 | g.240869021T>A | CA351313305 | AGXT | c.156T>A (p.Asp52Glu) n.176T>A n.405+1212A>T | |
2 | g.240869021T>C | CA2208989 | AGXT | c.156T>C (p.Asp52=) n.176T>C n.405+1212A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240869021T>G | CA351313306 | AGXT | c.156T>G (p.Asp52Glu) n.176T>G n.405+1212A>C | |
2 | g.240869021T= | CA1339330817 | AGXT | c.156T= (p.Asp52=) n.176T= n.405+1212A= | |
2 | g.240869022A>C | CA351313308 | AGXT | c.157A>C (p.Met53Leu) n.177A>C n.405+1211T>G | |
2 | g.240869022A>G | CA351313309 | AGXT | c.157A>G (p.Met53Val) n.177A>G n.405+1211T>C | |
2 | g.240869022A>T | CA351313307 | AGXT | c.157A>T (p.Met53Leu) n.177A>T n.405+1211T>A | |
2 | g.240869023T>A | CA351313311 | AGXT | c.158T>A (p.Met53Lys) n.178T>A n.405+1210A>T | |
2 | g.240869023T>C | CA351313310 | AGXT | c.158T>C (p.Met53Thr) n.178T>C n.405+1210A>G | gnomAD v4 COSMIC |
2 | g.240869023T>G | CA351313312 | AGXT | c.158T>G (p.Met53Arg) n.178T>G n.405+1210A>C | |
2 | g.240869024G>A | CA351313313 | AGXT | c.159G>A (p.Met53Ile) n.179G>A n.405+1209C>T | |
2 | g.240869024G>C | CA351313315 | AGXT | c.159G>C (p.Met53Ile) n.179G>C n.405+1209C>G | |
2 | g.240869024G>T | CA351313314 | AGXT | c.159G>T (p.Met53Ile) n.179G>T n.405+1209C>A | |
2 | g.240869025T>A | CA351313316 | AGXT | c.160T>A (p.Tyr54Asn) n.180T>A n.405+1208A>T | |
2 | g.240869025T>C | CA351313318 | AGXT | c.160T>C (p.Tyr54His) n.180T>C n.405+1208A>G | dbSNP |
2 | g.240869025T>G | CA351313317 | AGXT | c.160T>G (p.Tyr54Asp) n.180T>G n.405+1208A>C | |
2 | g.240869025T= | CA1339330818 | AGXT | c.160T= (p.Tyr54=) n.180T= n.405+1208A= | |
2 | g.240869026A>C | CA351313319 | AGXT | c.161A>C (p.Tyr54Ser) n.181A>C n.405+1207T>G | |
2 | g.240869026A>G | CA351313321 | AGXT | c.161A>G (p.Tyr54Cys) n.181A>G n.405+1207T>C | |
2 | g.240869026A>T | CA351313320 | AGXT | c.161A>T (p.Tyr54Phe) n.181A>T n.405+1207T>A | |
2 | g.240869027C>A | CA351313322 | AGXT | c.162C>A (p.Tyr54Ter) n.182C>A n.405+1206G>T | |
2 | g.240869027C>G | CA351313323 | AGXT | c.162C>G (p.Tyr54Ter) n.182C>G n.405+1206G>C | |
2 | g.240869027C>T | CA432234665 | AGXT | c.162C>T (p.Tyr54=) n.182C>T n.405+1206G>A | |
2 | g.240869028C>A | CA351313324 | AGXT | c.163C>A (p.Gln55Lys) n.183C>A n.405+1205G>T | |
2 | g.240869028C>G | CA351313326 | AGXT | c.163C>G (p.Gln55Glu) n.183C>G n.405+1205G>C | |
2 | g.240869028C>T | CA351313325 | AGXT | c.163C>T (p.Gln55Ter) n.183C>T n.405+1205G>A | |
2 | g.240869029A>C | CA351313327 | AGXT | c.164A>C (p.Gln55Pro) n.184A>C n.405+1204T>G | |
2 | g.240869029A>G | CA351313328 | AGXT | c.164A>G (p.Gln55Arg) n.184A>G n.405+1204T>C | |
2 | g.240869029A>T | CA351313329 | AGXT | c.164A>T (p.Gln55Leu) n.184A>T n.405+1204T>A | |
2 | g.240869030G>A | CA432234668 | AGXT | c.165G>A (p.Gln55=) n.185G>A n.405+1203C>T | gnomAD v4 |
2 | g.240869030G>C | CA351313330 | AGXT | c.165G>C (p.Gln55His) n.185G>C n.405+1203C>G | |
2 | g.240869030G= | CA1339330819 | AGXT | c.165G= (p.Gln55=) n.185G= n.405+1203C= | |
2 | g.240869030G>T | CA351313331 | AGXT | c.165G>T (p.Gln55His) n.185G>T n.405+1203C>A | dbSNP gnomAD v2 gnomAD v4 |
2 | g.240869031G>A | CA351313332 | AGXT | c.165+1G>A (n.165+1G>A) n.185+1G>A n.405+1202C>T | gnomAD v4 |
2 | g.240869031G>C | CA351313333 | AGXT | c.165+1G>C (n.165+1G>C) n.185+1G>C n.405+1202C>G | |
2 | g.240869031G>T | CA351313334 | AGXT | c.165+1G>T (n.165+1G>T) n.185+1G>T n.405+1202C>A | ClinVar |
2 | g.240869032T>A | CA351313335 | AGXT | c.165+2T>A (n.165+2T>A) n.185+2T>A n.405+1201A>T | |
2 | g.240869032T>C | CA351313336 | AGXT | c.165+2T>C (n.165+2T>C) n.185+2T>C n.405+1201A>G | |
2 | g.240869032T>G | CA351313337 | AGXT | c.165+2T>G (n.165+2T>G) n.185+2T>G n.405+1201A>C | |
2 | g.240869032_240869035delinsTAGG | CA1339330820 | AGXT | c.165+2_165+5delinsTAGG (n.165+2_165+5delinsTAGG) n.185+2_185+5delinsTAGG n.405+1198_405+1201delinsCCTA | |
2 | g.240869033A>G | CA2664004858 | AGXT | c.165+3A>G (n.165+3A>G) n.185+3A>G n.405+1200T>C | gnomAD v4 |
2 | g.240869035_240869037del | CA540752875 | AGXT | c.165+5_165+7del (n.165+5_165+7del) n.185+5_185+7del n.405+1198_405+1200del | dbSNP gnomAD v2 gnomAD v4 |
2 | g.240869034G>A | CA2208990 | AGXT | c.165+4G>A (n.165+4G>A) n.185+4G>A n.405+1199C>T | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
2 | g.240869034G= | CA1339330821 | AGXT | c.165+4G= (n.165+4G=) n.185+4G= n.405+1199C= | |
2 | g.240869035G>A | CA645538648 | AGXT | c.165+5G>A (n.165+5G>A) n.185+5G>A n.405+1198C>T | COSMIC |
2 | g.240869035G>T | CA2754891879 | AGXT | c.165+5G>T (n.165+5G>T) n.185+5G>T n.405+1198C>A | |
2 | g.240869037G>A | CA766960421 | AGXT | c.165+7G>A (n.165+7G>A) n.185+7G>A n.405+1196C>T | dbSNP gnomAD v3 gnomAD v4 |
2 | g.240869037G>C | CA2664004861 | AGXT | c.165+7G>C (n.165+7G>C) n.185+7G>C n.405+1196C>G | gnomAD v4 |
2 | g.240869037G= | CA1339330822 | AGXT | c.165+7G= (n.165+7G=) n.185+7G= n.405+1196C= | |
2 | g.240869038T>A | CA2664004864 | AGXT | c.165+8T>A (n.165+8T>A) n.185+8T>A n.405+1195A>T | gnomAD v4 |
2 | g.240869038T>C | CA1044064699 | AGXT | c.165+8T>C (n.165+8T>C) n.185+8T>C n.405+1195A>G | dbSNP gnomAD v3 gnomAD v4 |
2 | g.240869038T>G | CA2701683039 | AGXT | c.165+8T>G (n.165+8T>G) n.185+8T>G n.405+1195A>C | dbSNP |
2 | g.240869038T= | CA1339330823 | AGXT | c.165+8T= (n.165+8T=) n.185+8T= n.405+1195A= | |
2 | g.240869038_240869039delinsTG | CA1339330824 | AGXT | c.165+8_165+9delinsTG (n.165+8_165+9delinsTG) n.185+8_185+9delinsTG n.405+1194_405+1195delinsCA | |
2 | g.240869039G>T | CA2503016997 | AGXT | c.165+9G>T (n.165+9G>T) n.185+9G>T n.405+1194C>A | |
2 | g.240869043del | CA1339330825 | AGXT | c.165+13del (n.165+13del) n.185+13del n.405+1194del | dbSNP gnomAD v4 |
2 | g.240869040G>A | CA2664004870 | AGXT | c.165+10G>A (n.165+10G>A) n.185+10G>A n.405+1193C>T | gnomAD v4 |
2 | g.240869040G>C | CA2580068011 | AGXT | c.165+10G>C (n.165+10G>C) n.185+10G>C n.405+1193C>G | ClinVar |
2 | g.240869040G>T | CA2664004871 | AGXT | c.165+10G>T (n.165+10G>T) n.185+10G>T n.405+1193C>A | gnomAD v4 |
2 | g.240869042G>A | CA2697550610 | AGXT | c.165+12G>A (n.165+12G>A) n.185+12G>A n.405+1191C>T | ClinVar |
2 | g.240869042G>C | CA2208992 | AGXT | c.165+12G>C (n.165+12G>C) n.185+12G>C n.405+1191C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240869042G= | CA1339330826 | AGXT | c.165+12G= (n.165+12G=) n.185+12G= n.405+1191C= | |
2 | g.240869042G>T | CA2208991 | AGXT | c.165+12G>T (n.165+12G>T) n.185+12G>T n.405+1191C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240869043G>C | CA2577302081 | AGXT | c.165+13G>C (n.165+13G>C) n.185+13G>C n.405+1190C>G | |
2 | g.240869043G= | CA1339330827 | AGXT | c.165+13G= (n.165+13G=) n.185+13G= n.405+1190C= | |
2 | g.240869043G>T | CA2664004876 | AGXT | c.165+13G>T (n.165+13G>T) n.185+13G>T n.405+1190C>A | gnomAD v4 |
2 | g.240869045_240869046insGCTCGGGGTGCCTGGGTCTCACCCATGTTCCCACCCACAGATCACGGAAGAGGGGAGGGGTCACTGCTTCCTC | CA540752877 | AGXT | c.165+15_165+16insGCTCGGGGTGCCTGGGTCTCACCCATGTTCCCACCCACAGATCACGGAAGAGGGGAGGGGTCACTGCTTCCTC (n.165+15_165+16insGCTCGGGGTGCCTGGGTCTCACCCATGTTCCCACCCACAGATCACGGAAGAGGGGAGGGGTCACTGCTTCCTC) n.185+15_185+16insGCTCGGGGTGCCTGGGTCTCACCCATGTTCCCACCCACAGATCACGGAAGAGGGGAGGGGTCACTGCTTCCTC n.405+1189_405+1190insGGAAGCAGTGACCCCTCCCCTCTTCCGTGATCTGTGGGTGGGAACATGGGTGAGACCCAGGCACCCCGAGCGA | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240869045_240869046insGCTTGGGGGGCCTGGGTCTCACCCATGTTCCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCTTCCTC | CA2664004884 | AGXT | c.165+15_165+16insGCTTGGGGGGCCTGGGTCTCACCCATGTTCCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCTTCCTC (n.165+15_165+16insGCTTGGGGGGCCTGGGTCTCACCCATGTTCCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCTTCCTC) n.185+15_185+16insGCTTGGGGGGCCTGGGTCTCACCCATGTTCCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCTTCCTC n.405+1189_405+1190insGGAAGCAGTGACCCCCTTCCCTCGTCCACGATCTGTGGGTGGGAACATGGGTGAGACCCAGGCCCCCCAAGCGA | gnomAD v4 |
2 | g.240869045_240869046insGCTCGGGGGGCCTGGGTCTCACCCATTTTCCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCTTCCTC | CA916813744 | AGXT | c.165+15_165+16insGCTCGGGGGGCCTGGGTCTCACCCATTTTCCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCTTCCTC (n.165+15_165+16insGCTCGGGGGGCCTGGGTCTCACCCATTTTCCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCTTCCTC) n.185+15_185+16insGCTCGGGGGGCCTGGGTCTCACCCATTTTCCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCTTCCTC n.405+1189_405+1190insGGAAGCAGTGACCCCCTTCCCTCGTCCACGATCTGTGGGTGGGAAAATGGGTGAGACCCAGGCCCCCCGAGCGA | dbSNP gnomAD v4 |
2 | g.240869045_240869046insGCTCGGGGGGCCTGGGTCTCACCCATGTTCCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCTTCCTC | CA2664004880 | AGXT | c.165+15_165+16insGCTCGGGGGGCCTGGGTCTCACCCATGTTCCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCTTCCTC (n.165+15_165+16insGCTCGGGGGGCCTGGGTCTCACCCATGTTCCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCTTCCTC) n.185+15_185+16insGCTCGGGGGGCCTGGGTCTCACCCATGTTCCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCTTCCTC n.405+1189_405+1190insGGAAGCAGTGACCCCCTTCCCTCGTCCACGATCTGTGGGTGGGAACATGGGTGAGACCCAGGCCCCCCGAGCGA | gnomAD v4 |
2 | g.240869045_240869046insGCTCGGGGGTCCTGGGTCTCACCCATGTTCCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCTTCCTC | CA2664004883 | AGXT | c.165+15_165+16insGCTCGGGGGTCCTGGGTCTCACCCATGTTCCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCTTCCTC (n.165+15_165+16insGCTCGGGGGTCCTGGGTCTCACCCATGTTCCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCTTCCTC) n.185+15_185+16insGCTCGGGGGTCCTGGGTCTCACCCATGTTCCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCTTCCTC n.405+1189_405+1190insGGAAGCAGTGACCCCCTTCCCTCGTCCACGATCTGTGGGTGGGAACATGGGTGAGACCCAGGACCCCCGAGCGA | gnomAD v4 |
2 | g.240869045_240869046insGCTCGGGGGGCCTGGGTCTCACCCACGTTCCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCTTCCTC | CA540752876 | AGXT | c.165+15_165+16insGCTCGGGGGGCCTGGGTCTCACCCACGTTCCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCTTCCTC (n.165+15_165+16insGCTCGGGGGGCCTGGGTCTCACCCACGTTCCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCTTCCTC) n.185+15_185+16insGCTCGGGGGGCCTGGGTCTCACCCACGTTCCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCTTCCTC n.405+1189_405+1190insGGAAGCAGTGACCCCCTTCCCTCGTCCACGATCTGTGGGTGGGAACGTGGGTGAGACCCAGGCCCCCCGAGCGA | gnomAD v2 |
2 | g.240869113_240869114insTTCCTCACTCGGGGGGCCTGGGTCTCACCCATGTTCCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC | CA2754891881 | AGXT | c.166-57_166-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCCATGTTCCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC (n.166-57_166-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCCATGTTCCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC) n.186-57_186-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCCATGTTCCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC n.405+1189_405+1190insGGAAGCAGTGACCCCCTTCCCTCGTCCACGATCTGTGGGTGGGAACATGGGTGAGACCCAGGCCCCCCGAGTGA | |
2 | g.240869049_240869122dup | CA275557 | AGXT | c.165+19_166-48dup (n.165+19_166-48dup) n.185+19_186-48dup n.405+1116_405+1189dup | ClinVar dbSNP |
2 | g.240869045_240869152dup | CA915948958 | AGXT | c.165+15_166-18dup (n.165+15_166-18dup) n.185+15_186-18dup n.405+1082_405+1189dup | |
2 | g.240869046A= | CA1339330828 | AGXT | c.165+16A= (n.165+16A=) n.185+16A= n.405+1187T= | |
2 | g.240869046A>C | CA2581836825 | AGXT | c.165+16A>C (n.165+16A>C) n.185+16A>C n.405+1187T>G | |
2 | g.240869046A>G | CA275554 | AGXT | c.165+16A>G (n.165+16A>G) n.185+16A>G n.405+1187T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240869046A>T | CA2208993 | AGXT | c.165+16A>T (n.165+16A>T) n.185+16A>T n.405+1187T>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240869046_240869054del | CA2664004888 | AGXT | c.165+16_165+24del (n.165+16_165+24del) n.185+16_185+24del n.405+1179_405+1187del | gnomAD v4 |
2 | g.240869047C= | CA1339330829 | AGXT | c.165+17C= (n.165+17C=) n.185+17C= n.405+1186G= | |
2 | g.240869047C>T | CA2208994 | AGXT | c.165+17C>T (n.165+17C>T) n.185+17C>T n.405+1186G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.240869048T>C | CA2577302084 | AGXT | c.165+18T>C (n.165+18T>C) n.185+18T>C n.405+1185A>G | |
2 | g.240869049C= | CA1339330830 | AGXT | c.165+19C= (n.165+19C=) n.185+19C= n.405+1184G= | |
2 | g.240869049C>T | CA2208995 | AGXT | c.165+19C>T (n.165+19C>T) n.185+19C>T n.405+1184G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240869049_240869050delinsCG | CA1339330831 | AGXT | c.165+19_165+20delinsCG (n.165+19_165+20delinsCG) n.185+19_185+20delinsCG n.405+1183_405+1184delinsCG | |
2 | g.240869050G>A | CA2208996 | AGXT | c.165+20G>A (n.165+20G>A) n.185+20G>A n.405+1183C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240869050G= | CA1339330833 | AGXT | c.165+20G= (n.165+20G=) n.185+20G= n.405+1183C= | |
2 | g.240869050G>T | CA1339330832 | AGXT | c.165+20G>T (n.165+20G>T) n.185+20G>T n.405+1183C>A | dbSNP |
2 | g.240869055dup | CA540752878 | AGXT | c.165+25dup (n.165+25dup) n.185+25dup n.405+1183dup | gnomAD v2 gnomAD v4 |
2 | g.240869055del | CA1339330834 | AGXT | c.165+25del (n.165+25del) n.185+25del n.405+1183del | dbSNP gnomAD v4 |
2 | g.240869051G>C | CA2208997 | AGXT | c.165+21G>C (n.165+21G>C) n.185+21G>C n.405+1182C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240869051G= | CA1339330835 | AGXT | c.165+21G= (n.165+21G=) n.185+21G= n.405+1182C= | |
2 | g.240869052G>A | CA2740381934 | AGXT | c.165+22G>A (n.165+22G>A) n.185+22G>A n.405+1181C>T | |
2 | g.240869052G>T | CA2664004897 | AGXT | c.165+22G>T (n.165+22G>T) n.185+22G>T n.405+1181C>A | gnomAD v4 |
2 | g.240869053G>C | CA2208998 | AGXT | c.165+23G>C (n.165+23G>C) n.185+23G>C n.405+1180C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.240869053G= | CA1339330836 | AGXT | c.165+23G= (n.165+23G=) n.185+23G= n.405+1180C= | |
2 | g.240869054G>A | CA2664004899 | AGXT | c.165+24G>A (n.165+24G>A) n.185+24G>A n.405+1179C>T | gnomAD v4 |
2 | g.240869054G= | CA1339330837 | AGXT | c.165+24G= (n.165+24G=) n.185+24G= n.405+1179C= | |
2 | g.240869054G>T | CA2208999 | AGXT | c.165+24G>T (n.165+24G>T) n.185+24G>T n.405+1179C>A | dbSNP ExAC |
2 | g.240869055G>A | CA2209000 | AGXT | c.165+25G>A (n.165+25G>A) n.185+25G>A n.405+1178C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240869055G>C | CA766960494 | AGXT | c.165+25G>C (n.165+25G>C) n.185+25G>C n.405+1178C>G | dbSNP gnomAD v4 |
2 | g.240869055G= | CA1339330838 | AGXT | c.165+25G= (n.165+25G=) n.185+25G= n.405+1178C= | |
2 | g.240869055G>T | CA540752879 | AGXT | c.165+25G>T (n.165+25G>T) n.185+25G>T n.405+1178C>A | dbSNP gnomAD v2 gnomAD v4 |
2 | g.240869056C>G | CA2754891883 | AGXT | c.165+26C>G (n.165+26C>G) n.185+26C>G n.405+1177G>C | |
2 | g.240869057C>G | CA2664004905 | AGXT | c.165+27C>G (n.165+27C>G) n.185+27C>G n.405+1176G>C | gnomAD v4 |
2 | g.240869059G= | CA1339330839 | AGXT | c.165+29G= (n.165+29G=) n.185+29G= n.405+1174C= | |
2 | g.240869059G>T | CA2209001 | AGXT | c.165+29G>T (n.165+29G>T) n.185+29G>T n.405+1174C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.240869060G>A | CA2664004909 | AGXT | c.165+30G>A (n.165+30G>A) n.185+30G>A n.405+1173C>T | gnomAD v4 |
2 | g.240869060G= | CA1339330840 | AGXT | c.165+30G= (n.165+30G=) n.185+30G= n.405+1173C= | |
2 | g.240869060G>T | CA2209002 | AGXT | c.165+30G>T (n.165+30G>T) n.185+30G>T n.405+1173C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.240869061G>A | CA1044064729 | AGXT | c.165+31G>A (n.165+31G>A) n.185+31G>A n.405+1172C>T | dbSNP gnomAD v3 gnomAD v4 |
2 | g.240869061G= | CA1339330841 | AGXT | c.165+31G= (n.165+31G=) n.185+31G= n.405+1172C= | |
2 | g.240869061G>T | CA2209003 | AGXT | c.165+31G>T (n.165+31G>T) n.185+31G>T n.405+1172C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240869062T>G | CA2664004914 | AGXT | c.165+32T>G (n.165+32T>G) n.185+32T>G n.405+1171A>C | gnomAD v4 |
2 | g.240869066_240869067del | CA2664004916 | AGXT | c.165+36_165+37del (n.165+36_165+37del) n.185+36_185+37del n.405+1167_405+1168del | gnomAD v4 |
2 | g.240869067C= | CA1339330842 | AGXT | c.165+37C= (n.165+37C=) n.185+37C= n.405+1166G= | |
2 | g.240869067C>T | CA540752880 | AGXT | c.165+37C>T (n.165+37C>T) n.185+37C>T n.405+1166G>A | dbSNP gnomAD v2 gnomAD v4 |
2 | g.240869068C= | CA1339330843 | AGXT | c.165+38C= (n.165+38C=) n.185+38C= n.405+1165G= | |
2 | g.240869068C>G | CA1339330844 | AGXT | c.165+38C>G (n.165+38C>G) n.185+38C>G n.405+1165G>C | dbSNP |
2 | g.240869068C>T | CA2664004919 | AGXT | c.165+38C>T (n.165+38C>T) n.185+38C>T n.405+1165G>A | gnomAD v4 |
2 | g.240869069C>A | CA1339330846 | AGXT | c.165+39C>A (n.165+39C>A) n.185+39C>A n.405+1164G>T | dbSNP gnomAD v4 |
2 | g.240869069C= | CA1339330845 | AGXT | c.165+39C= (n.165+39C=) n.185+39C= n.405+1164G= | |
2 | g.240869069C>G | CA2664004921 | AGXT | c.165+39C>G (n.165+39C>G) n.185+39C>G n.405+1164G>C | gnomAD v4 |
2 | g.240869069C>T | CA2577302091 | AGXT | c.165+39C>T (n.165+39C>T) n.185+39C>T n.405+1164G>A | |
2 | g.240869070A= | CA1339330847 | AGXT | c.165+40A= (n.165+40A=) n.185+40A= n.405+1163T= | |
2 | g.240869070A>C | CA275559 | AGXT | c.165+40A>C (n.165+40A>C) n.185+40A>C n.405+1163T>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240869070A>G | CA2664004925 | AGXT | c.165+40A>G (n.165+40A>G) n.185+40A>G n.405+1163T>C | gnomAD v4 |
2 | g.240869070_240869071insG | CA2664004929 | AGXT | c.165+40_165+41insG (n.165+40_165+41insG) n.185+40_185+41insG n.405+1162_405+1163insC | gnomAD v4 |
2 | g.240869071T>C | CA2664004931 | AGXT | c.165+41T>C (n.165+41T>C) n.185+41T>C n.405+1162A>G | gnomAD v4 |
2 | g.240869072G>A | CA2664004933 | AGXT | c.165+42G>A (n.165+42G>A) n.185+42G>A n.405+1161C>T | gnomAD v4 |
2 | g.240869072G= | CA1339330848 | AGXT | c.165+42G= (n.165+42G=) n.185+42G= n.405+1161C= | |
2 | g.240869072G>T | CA2607663583 | AGXT | c.165+42G>T (n.165+42G>T) n.185+42G>T n.405+1161C>A | dbSNP gnomAD v3 gnomAD v4 |
2 | g.240869072_240869073insATCCCACCCACAGATCACGGAAGAGGGGAGGGGTCACTGC | CA1339330849 | AGXT | c.165+42_165+43insATCCCACCCACAGATCACGGAAGAGGGGAGGGGTCACTGC (n.165+42_165+43insATCCCACCCACAGATCACGGAAGAGGGGAGGGGTCACTGC) n.185+42_185+43insATCCCACCCACAGATCACGGAAGAGGGGAGGGGTCACTGC n.405+1160_405+1161insGCAGTGACCCCTCCCCTCTTCCGTGATCTGTGGGTGGGAT | dbSNP |
2 | g.240869072_240869073insGTCCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC | CA2664004934 | AGXT | c.165+42_165+43insGTCCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC (n.165+42_165+43insGTCCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC) n.185+42_185+43insGTCCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC n.405+1160_405+1161insGCAGTGACCCCCTTCCCTCGTCCACGATCTGTGGGTGGGAC | gnomAD v4 |
2 | g.240869073T= | CA1339330850 | AGXT | c.165+43T= (n.165+43T=) n.185+43T= n.405+1160A= | |
2 | g.240869073_240869074insCCCCACCCACAGA | CA1044064741 | AGXT | c.165+43_165+44insCCCCACCCACAGA (n.165+43_165+44insCCCCACCCACAGA) n.185+43_185+44insCCCCACCCACAGA n.405+1159_405+1160insTCTGTGGGTGGGG | dbSNP |
2 | g.240869074T>A | CA275558 | AGXT | c.165+44T>A (n.165+44T>A) n.185+44T>A n.405+1159A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240869074T>C | CA2581836826 | AGXT | c.165+44T>C (n.165+44T>C) n.185+44T>C n.405+1159A>G | |
2 | g.240869074T>G | CA2581836827 | AGXT | c.165+44T>G (n.165+44T>G) n.185+44T>G n.405+1159A>C | |
2 | g.240869074T= | CA1339330851 | AGXT | c.165+44T= (n.165+44T=) n.185+44T= n.405+1159A= | |
2 | g.240869074_240869075insTCCACCCACAGATCACGGAAGAGGGGAGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTA | CA2209006 | AGXT | c.165+44_165+45insTCCACCCACAGATCACGGAAGAGGGGAGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTA (n.165+44_165+45insTCCACCCACAGATCACGGAAGAGGGGAGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTA) n.185+44_185+45insTCCACCCACAGATCACGGAAGAGGGGAGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTA n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGACCCCTCCCCTCTTCCGTGATCTGTGGGTGGA | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240869074_240869075insACCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTA | CA2664005141 | AGXT | c.165+44_165+45insACCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTA (n.165+44_165+45insACCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTA) n.185+44_185+45insACCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTA n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGACCCCCTTCCCTCGTCCACGATCTGTGGGTGGT | gnomAD v4 |
2 | g.240869075C= | CA1339330852 | AGXT | c.165+45C= (n.165+45C=) n.185+45C= n.405+1158G= | |
2 | g.240869075C>T | CA2209008 | AGXT | c.165+45C>T (n.165+45C>T) n.185+45C>T n.405+1158G>A | dbSNP ExAC |
2 | g.240869075_240869076insACGGAAGAGGGGAGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTAC | CA1044064831 | AGXT | c.165+45_165+46insACGGAAGAGGGGAGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTAC (n.165+45_165+46insACGGAAGAGGGGAGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTAC) n.185+45_185+46insACGGAAGAGGGGAGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTAC n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGACCCCTCCCCTCTTCCGTG | dbSNP |
2 | g.240869076_240869077insTCACTCGGGGGGCCTGGGTCTCACCCCTGTACC | CA1339330853 | AGXT | c.165+46_165+47insTCACTCGGGGGGCCTGGGTCTCACCCCTGTACC (n.165+46_165+47insTCACTCGGGGGGCCTGGGTCTCACCCCTGTACC) n.185+46_185+47insTCACTCGGGGGGCCTGGGTCTCACCCCTGTACC n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGG | dbSNP gnomAD v4 |
2 | g.240869078_240869079insACCACAGATCGTGGACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCA | CA2664005091 | AGXT | c.165+48_165+49insACCACAGATCGTGGACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCA (n.165+48_165+49insACCACAGATCGTGGACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCA) n.185+48_185+49insACCACAGATCGTGGACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCA n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGACCCCCTTCCCTCGTCCACGATCTGTGGTTGGG | gnomAD v4 |
2 | g.240869079_240869080insTCACAGATCGTGGACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCAC | CA1044064792 | AGXT | c.165+49_165+50insTCACAGATCGTGGACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCAC (n.165+49_165+50insTCACAGATCGTGGACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCAC) n.185+49_185+50insTCACAGATCGTGGACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCAC n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGACCCCCTTCCCTCGTCCACGATCTGTGAGTGGG | gnomAD v3 gnomAD v4 |
2 | g.240869080_240869081insAACAGATCGTGGACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACC | CA2664005139 | AGXT | c.165+50_165+51insAACAGATCGTGGACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACC (n.165+50_165+51insAACAGATCGTGGACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACC) n.185+50_185+51insAACAGATCGTGGACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACC n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGACCCCCTTCCCTCGTCCACGATCTGTTGGTGGG | gnomAD v4 |
2 | g.240869081_240869082insGCAGATCGTGGACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCC | CA2740381935 | AGXT | c.165+51_165+52insGCAGATCGTGGACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCC (n.165+51_165+52insGCAGATCGTGGACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCC) n.185+51_185+52insGCAGATCGTGGACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCC n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGACCCCCTTCCCTCGTCCACGATCTGCGGGTGGG | |
2 | g.240869081_240869082insCCAGATCGTGGACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCC | CA2514690812 | AGXT | c.165+51_165+52insCCAGATCGTGGACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCC (n.165+51_165+52insCCAGATCGTGGACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCC) n.185+51_185+52insCCAGATCGTGGACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCC n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGACCCCCTTCCCTCGTCCACGATCTGGGGGTGGG | |
2 | g.240869082_240869083insTAGATCGTGGACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCA | CA2664005076 | AGXT | c.165+52_165+53insTAGATCGTGGACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCA (n.165+52_165+53insTAGATCGTGGACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCA) n.185+52_185+53insTAGATCGTGGACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCA n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGACCCCCTTCCCTCGTCCACGATCTATGGGTGGG | gnomAD v4 |
2 | g.240869083_240869084insCGATCGTGGACGAGGGAAGGGGGTCACTGCTTCCTCAATCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCAC | CA2664005077 | AGXT | c.165+53_165+54insCGATCGTGGACGAGGGAAGGGGGTCACTGCTTCCTCAATCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCAC (n.165+53_165+54insCGATCGTGGACGAGGGAAGGGGGTCACTGCTTCCTCAATCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCAC) n.185+53_185+54insCGATCGTGGACGAGGGAAGGGGGTCACTGCTTCCTCAATCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCAC n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCCGATTGAGGAAGCAGTGACCCCCTTCCCTCGTCCACGATCGGTGGGTGGG | gnomAD v4 |
2 | g.240869085_240869086insGTCGTGGACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAG | CA2664005079 | AGXT | c.165+55_165+56insGTCGTGGACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAG (n.165+55_165+56insGTCGTGGACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAG) n.185+55_185+56insGTCGTGGACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAG n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGACCCCCTTCCCTCGTCCACGACCTGTGGGTGGG | gnomAD v4 |
2 | g.240869085_240869086insCTCGTGGACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAG | CA2664005084 | AGXT | c.165+55_165+56insCTCGTGGACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAG (n.165+55_165+56insCTCGTGGACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAG) n.185+55_185+56insCTCGTGGACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAG n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGACCCCCTTCCCTCGTCCACGAGCTGTGGGTGGG | gnomAD v4 |
2 | g.240869085_240869086insTTCGTGGACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAG | CA2664005078 | AGXT | c.165+55_165+56insTTCGTGGACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAG (n.165+55_165+56insTTCGTGGACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAG) n.185+55_185+56insTTCGTGGACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAG n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGACCCCCTTCCCTCGTCCACGAACTGTGGGTGGG | gnomAD v4 |
2 | g.240869086_240869087insGCGTGGACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGA | CA916813751 | AGXT | c.165+56_165+57insGCGTGGACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGA (n.165+56_165+57insGCGTGGACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGA) n.185+56_185+57insGCGTGGACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGA n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGACCCCCTTCCCTCGTCCACGCTCTGTGGGTGGG | dbSNP gnomAD v3 gnomAD v4 |
2 | g.240869086_240869087insCCGTGGACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGA | CA2664005137 | AGXT | c.165+56_165+57insCCGTGGACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGA (n.165+56_165+57insCCGTGGACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGA) n.185+56_185+57insCCGTGGACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGA n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGACCCCCTTCCCTCGTCCACGGTCTGTGGGTGGG | gnomAD v4 |
2 | g.240869088_240869089insACGGAAGGGGGAGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATC | CA2664005131 | AGXT | c.165+58_165+59insACGGAAGGGGGAGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATC (n.165+58_165+59insACGGAAGGGGGAGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATC) n.185+58_185+59insACGGAAGGGGGAGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATC n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGACCCCTCCCCCTTCCGTGATCTGTGGGTGGG | gnomAD v4 |
2 | g.240869088_240869089insACGGAAGAGGGAGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATC | CA1044064830 | AGXT | c.165+58_165+59insACGGAAGAGGGAGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATC (n.165+58_165+59insACGGAAGAGGGAGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATC) n.185+58_185+59insACGGAAGAGGGAGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATC n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGACCCCTCCCTCTTCCGTGATCTGTGGGTGGG | dbSNP gnomAD v3 gnomAD v4 |
2 | g.240869088_240869089insACGGAAGAGGGGAGGGGTCACCGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATC | CA2607663585 | AGXT | c.165+58_165+59insACGGAAGAGGGGAGGGGTCACCGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATC (n.165+58_165+59insACGGAAGAGGGGAGGGGTCACCGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATC) n.185+58_185+59insACGGAAGAGGGGAGGGGTCACCGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATC n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCGGTGACCCCTCCCCTCTTCCGTGATCTGTGGGTGGG | gnomAD v3 gnomAD v4 |
2 | g.240869088_240869089insAGGGAAGAGGGGAGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATC | CA1044064825 | AGXT | c.165+58_165+59insAGGGAAGAGGGGAGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATC (n.165+58_165+59insAGGGAAGAGGGGAGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATC) n.185+58_185+59insAGGGAAGAGGGGAGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATC n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGACCCCTCCCCTCTTCCCTGATCTGTGGGTGGG | dbSNP gnomAD v3 gnomAD v4 |
2 | g.240869088_240869089insACGGAAGAGGGGAGGGGTCACTGCTTCCTCACTCGGAGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATC | CA1044064827 | AGXT | c.165+58_165+59insACGGAAGAGGGGAGGGGTCACTGCTTCCTCACTCGGAGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATC (n.165+58_165+59insACGGAAGAGGGGAGGGGTCACTGCTTCCTCACTCGGAGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATC) n.185+58_185+59insACGGAAGAGGGGAGGGGTCACTGCTTCCTCACTCGGAGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATC n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCTCCGAGTGAGGAAGCAGTGACCCCTCCCCTCTTCCGTGATCTGTGGGTGGG | dbSNP gnomAD v3 gnomAD v4 |
2 | g.240869088_240869089insACGGAAGAGGGGAGGGGGCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATC | CA1044064828 | AGXT | c.165+58_165+59insACGGAAGAGGGGAGGGGGCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATC (n.165+58_165+59insACGGAAGAGGGGAGGGGGCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATC) n.185+58_185+59insACGGAAGAGGGGAGGGGGCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATC n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGCCCCCTCCCCTCTTCCGTGATCTGTGGGTGGG | dbSNP gnomAD v3 gnomAD v4 |
2 | g.240869088_240869089insACGGAAGAGGGGAGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATC | CA2209005 | AGXT | c.165+58_165+59insACGGAAGAGGGGAGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATC (n.165+58_165+59insACGGAAGAGGGGAGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATC) n.185+58_185+59insACGGAAGAGGGGAGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATC n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGACCCCTCCCCTCTTCCGTGATCTGTGGGTGGG | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240869088_240869089insACGGAAGAGGGGAGGGGTCACTGCTTCCTCAGTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATC | CA1044064826 | AGXT | c.165+58_165+59insACGGAAGAGGGGAGGGGTCACTGCTTCCTCAGTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATC (n.165+58_165+59insACGGAAGAGGGGAGGGGTCACTGCTTCCTCAGTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATC) n.185+58_185+59insACGGAAGAGGGGAGGGGTCACTGCTTCCTCAGTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATC n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCCGACTGAGGAAGCAGTGACCCCTCCCCTCTTCCGTGATCTGTGGGTGGG | dbSNP gnomAD v3 gnomAD v4 |
2 | g.240869088_240869089insACGGAAGAGGGGAGGGGTCACTGCTTCCTCACTCTGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATC | CA2664005132 | AGXT | c.165+58_165+59insACGGAAGAGGGGAGGGGTCACTGCTTCCTCACTCTGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATC (n.165+58_165+59insACGGAAGAGGGGAGGGGTCACTGCTTCCTCACTCTGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATC) n.185+58_185+59insACGGAAGAGGGGAGGGGTCACTGCTTCCTCACTCTGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATC n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCAGAGTGAGGAAGCAGTGACCCCTCCCCTCTTCCGTGATCTGTGGGTGGG | gnomAD v4 |
2 | g.240869088_240869089insACGGAAGAGGGGAGGGGACACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATC | CA1044064829 | AGXT | c.165+58_165+59insACGGAAGAGGGGAGGGGACACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATC (n.165+58_165+59insACGGAAGAGGGGAGGGGACACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATC) n.185+58_185+59insACGGAAGAGGGGAGGGGACACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATC n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGTCCCCTCCCCTCTTCCGTGATCTGTGGGTGGG | gnomAD v3 gnomAD v4 |
2 | g.240869088_240869089insACGGAAGAGGGGAGGGGTCACTGCTTCCTCACTCGGGGGTCCTGGGTCTCACCCCTGTACCCACCCACAGATC | CA2209007 | AGXT | c.165+58_165+59insACGGAAGAGGGGAGGGGTCACTGCTTCCTCACTCGGGGGTCCTGGGTCTCACCCCTGTACCCACCCACAGATC (n.165+58_165+59insACGGAAGAGGGGAGGGGTCACTGCTTCCTCACTCGGGGGTCCTGGGTCTCACCCCTGTACCCACCCACAGATC) n.185+58_185+59insACGGAAGAGGGGAGGGGTCACTGCTTCCTCACTCGGGGGTCCTGGGTCTCACCCCTGTACCCACCCACAGATC n.405+1158_405+1159insTACAGGGGTGAGACCCAGGACCCCCGAGTGAGGAAGCAGTGACCCCTCCCCTCTTCCGTGATCTGTGGGTGGG | ExAC gnomAD v4 |
2 | g.240869088_240869089insACGGAAGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATC | CA2664005134 | AGXT | c.165+58_165+59insACGGAAGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATC (n.165+58_165+59insACGGAAGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATC) n.185+58_185+59insACGGAAGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATC n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGACCCCCTTCCCTCTTCCGTGATCTGTGGGTGGG | gnomAD v4 |
2 | g.240869088_240869089insATGGACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATC | CA2754891892 | AGXT | c.165+58_165+59insATGGACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATC (n.165+58_165+59insATGGACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATC) n.185+58_185+59insATGGACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATC n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGACCCCCTTCCCTCGTCCATGATCTGTGGGTGGG | |
2 | g.240869088_240869089insACGGAAGAGGGGAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATC | CA2664005133 | AGXT | c.165+58_165+59insACGGAAGAGGGGAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATC (n.165+58_165+59insACGGAAGAGGGGAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATC) n.185+58_185+59insACGGAAGAGGGGAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATC n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGACCCCCTCCCCTCTTCCGTGATCTGTGGGTGGG | gnomAD v4 |
2 | g.240869089_240869090insGGGACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCG | CA2664005125 | AGXT | c.165+59_165+60insGGGACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCG (n.165+59_165+60insGGGACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCG) n.185+59_185+60insGGGACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCG n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGACCCCCTTCCCTCGTCCCCGATCTGTGGGTGGG | gnomAD v4 |
2 | g.240869089_240869090insAGGACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCG | CA2664005130 | AGXT | c.165+59_165+60insAGGACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCG (n.165+59_165+60insAGGACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCG) n.185+59_185+60insAGGACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCG n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGACCCCCTTCCCTCGTCCTCGATCTGTGGGTGGG | gnomAD v4 |
2 | g.240869091_240869092insAACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTG | CA2664005120 | AGXT | c.165+61_165+62insAACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTG (n.165+61_165+62insAACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTG) n.185+61_185+62insAACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTG n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGACCCCCTTCCCTCGTTCACGATCTGTGGGTGGG | gnomAD v4 |
2 | g.240869091_240869092insTACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTG | CA2664005085 | AGXT | c.165+61_165+62insTACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTG (n.165+61_165+62insTACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTG) n.185+61_185+62insTACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTG n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGACCCCCTTCCCTCGTACACGATCTGTGGGTGGG | gnomAD v4 |
2 | g.240869092_240869093insCCGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGG | CA1044064798 | AGXT | c.165+62_165+63insCCGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGG (n.165+62_165+63insCCGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGG) n.185+62_185+63insCCGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGG n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGACCCCCTTCCCTCGGCCACGATCTGTGGGTGGG | gnomAD v3 gnomAD v4 |
2 | g.240869092_240869093insGCGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGG | CA2664005075 | AGXT | c.165+62_165+63insGCGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGG (n.165+62_165+63insGCGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGG) n.185+62_185+63insGCGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGG n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGACCCCCTTCCCTCGCCCACGATCTGTGGGTGGG | gnomAD v4 |
2 | g.240869093_240869094insTGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGA | CA1044064800 | AGXT | c.165+63_165+64insTGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGA (n.165+63_165+64insTGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGA) n.185+63_185+64insTGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGA n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGACCCCCTTCCCTCATCCACGATCTGTGGGTGGG | dbSNP gnomAD v3 gnomAD v4 |
2 | g.240869095_240869096insGGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACG | CA2664005094 | AGXT | c.165+65_165+66insGGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACG (n.165+65_165+66insGGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACG) n.185+65_185+66insGGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACG n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGACCCCCTTCCCCCGTCCACGATCTGTGGGTGGG | gnomAD v4 |
2 | g.240869096_240869097insTGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGA | CA2664005096 | AGXT | c.165+66_165+67insTGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGA (n.165+66_165+67insTGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGA) n.185+66_185+67insTGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGA n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGACCCCCTTCCATCGTCCACGATCTGTGGGTGGG | gnomAD v4 |
2 | g.240869098_240869099insAAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGG | CA2664005116 | AGXT | c.165+68_165+69insAAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGG (n.165+68_165+69insAAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGG) n.185+68_185+69insAAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGG n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGACCCCCTTTCCTCGTCCACGATCTGTGGGTGGG | gnomAD v4 |
2 | g.240869098_240869099insCAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGG | CA2664005198 | AGXT | c.165+68_165+69insCAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGG (n.165+68_165+69insCAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGG) n.185+68_185+69insCAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGG n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGACCCCCTTGCCTCGTCCACGATCTGTGGGTGGG | gnomAD v4 |
2 | g.240869099_240869100insGAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGG | CA2664005098 | AGXT | c.165+69_166-70insGAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGG (n.165+69_166-70insGAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGG) n.185+69_186-70insGAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGG n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGACCCCCTCCCCTCGTCCACGATCTGTGGGTGGG | gnomAD v4 |
2 | g.240869100_240869101insCGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGA | CA2664005109 | AGXT | c.166-70_166-69insCGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGA (n.166-70_166-69insCGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGA) n.186-70_186-69insCGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGA n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGACCCCCGTCCCTCGTCCACGATCTGTGGGTGGG | gnomAD v4 |
2 | g.240869100_240869101insTGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGA | CA2664005105 | AGXT | c.166-70_166-69insTGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGA (n.166-70_166-69insTGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGA) n.186-70_186-69insTGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGA n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGACCCCCATCCCTCGTCCACGATCTGTGGGTGGG | gnomAD v4 |
2 | g.240869100_240869101insGGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGA | CA1044064803 | AGXT | c.166-70_166-69insGGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGA (n.166-70_166-69insGGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGA) n.186-70_186-69insGGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGA n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGACCCCCCTCCCTCGTCCACGATCTGTGGGTGGG | dbSNP gnomAD v3 gnomAD v4 |
2 | g.240869101_240869102insAGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAA | CA2664005149 | AGXT | c.166-69_166-68insAGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAA (n.166-69_166-68insAGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAA) n.186-69_186-68insAGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAA n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGACCCCTTTCCCTCGTCCACGATCTGTGGGTGGG | gnomAD v4 |
2 | g.240869103_240869104insCGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGG | CA2754891891 | AGXT | c.166-67_166-66insCGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGG (n.166-67_166-66insCGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGG) n.186-67_186-66insCGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGG n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGACCGCCTTCCCTCGTCCACGATCTGTGGGTGGG | |
2 | g.240869103_240869104insAGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGG | CA2664005195 | AGXT | c.166-67_166-66insAGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGG (n.166-67_166-66insAGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGG) n.186-67_186-66insAGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGG n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGACCTCCTTCCCTCGTCCACGATCTGTGGGTGGG | gnomAD v4 |
2 | g.240869103_240869104insTGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGG | CA2664005111 | AGXT | c.166-67_166-66insTGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGG (n.166-67_166-66insTGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGG) n.186-67_186-66insTGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGG n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGACCACCTTCCCTCGTCCACGATCTGTGGGTGGG | gnomAD v4 |
2 | g.240869103_240869104insTGGGCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGG | CA1044064807 | AGXT | c.166-67_166-66insTGGGCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGG (n.166-67_166-66insTGGGCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGG) n.186-67_186-66insTGGGCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGG n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGCCCACCTTCCCTCGTCCACGATCTGTGGGTGGG | gnomAD v3 gnomAD v4 |
2 | g.240869105_240869106insCTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGG | CA1044064823 | AGXT | c.166-65_166-64insCTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGG (n.166-65_166-64insCTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGG) n.186-65_186-64insCTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGG n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGAGCCCCTTCCCTCGTCCACGATCTGTGGGTGGG | gnomAD v3 gnomAD v4 |
2 | g.240869105_240869106insATCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGG | CA1044064824 | AGXT | c.166-65_166-64insATCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGG (n.166-65_166-64insATCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGG) n.186-65_186-64insATCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGG n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGATCCCCTTCCCTCGTCCACGATCTGTGGGTGGG | dbSNP gnomAD v3 gnomAD v4 |
2 | g.240869105_240869106insTTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGG | CA1044064811 | AGXT | c.166-65_166-64insTTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGG (n.166-65_166-64insTTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGG) n.186-65_186-64insTTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGG n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGAACCCCTTCCCTCGTCCACGATCTGTGGGTGGG | dbSNP gnomAD v3 gnomAD v4 |
2 | g.240869106_240869107insACACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGG | CA2664005191 | AGXT | c.166-64_166-63insACACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGG (n.166-64_166-63insACACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGG) n.186-64_186-63insACACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGG n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGTCCCCCTTCCCTCGTCCACGATCTGTGGGTGGG | gnomAD v4 |
2 | g.240869106_240869107insGCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGG | CA1044064822 | AGXT | c.166-64_166-63insGCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGG (n.166-64_166-63insGCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGG) n.186-64_186-63insGCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGG n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGCCCCCCTTCCCTCGTCCACGATCTGTGGGTGGG | gnomAD v3 gnomAD v4 |
2 | g.240869106_240869107insCCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGG | CA2664005188 | AGXT | c.166-64_166-63insCCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGG (n.166-64_166-63insCCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGG) n.186-64_186-63insCCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGG n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGGCCCCCTTCCCTCGTCCACGATCTGTGGGTGGG | gnomAD v4 |
2 | g.240869106_240869107insCCTCTGCGTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGG | CA2664005180 | AGXT | c.166-64_166-63insCCTCTGCGTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGG (n.166-64_166-63insCCTCTGCGTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGG) n.186-64_186-63insCCTCTGCGTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGG n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGACGCAGAGGCCCCCTTCCCTCGTCCACGATCTGTGGGTGGG | gnomAD v4 |
2 | g.240869106_240869107insGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGG | CA2664005173 | AGXT | c.166-64_166-63insGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGG (n.166-64_166-63insGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGG) n.186-64_186-63insGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGG n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGACCCCCCTTCCCTCGTCCACGATCTGTGGGTGGG | gnomAD v4 |
2 | g.240869110_240869111insCGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCAC | CA1044064789 | AGXT | c.166-60_166-59insCGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCAC (n.166-60_166-59insCGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCAC) n.186-60_186-59insCGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCAC n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCGGTGACCCCCTTCCCTCGTCCACGATCTGTGGGTGGG | gnomAD v3 gnomAD v4 |
2 | g.240869110_240869111insGGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCAC | CA2664005201 | AGXT | c.166-60_166-59insGGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCAC (n.166-60_166-59insGGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCAC) n.186-60_186-59insGGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCAC n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCCGTGACCCCCTTCCCTCGTCCACGATCTGTGGGTGGG | gnomAD v4 |
2 | g.240869113_240869114insTTCCTCACTCGGGGGGCCTGGGTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC | CA2664005146 | AGXT | c.166-57_166-56insTTCCTCACTCGGGGGGCCTGGGTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC (n.166-57_166-56insTTCCTCACTCGGGGGGCCTGGGTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC) n.186-57_186-56insTTCCTCACTCGGGGGGCCTGGGTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC n.405+1158_405+1159insTACAGGGGTGACCCAGGCCCCCCGAGTGAGGAAGCAGTGACCCCCTTCCCTCGTCCACGATCTGTGGGTGGG | gnomAD v4 |
2 | g.240869113_240869114insTTCCTCACTCGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC | CA2664005154 | AGXT | c.166-57_166-56insTTCCTCACTCGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC (n.166-57_166-56insTTCCTCACTCGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC) n.186-57_186-56insTTCCTCACTCGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCGAGTGAGGAAGCAGTGACCCCCTTCCCTCGTCCACGATCTGTGGGTGGG | gnomAD v4 |
2 | g.240869113_240869114insTTCCTCACGCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC | CA2664005164 | AGXT | c.166-57_166-56insTTCCTCACGCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC (n.166-57_166-56insTTCCTCACGCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC) n.186-57_186-56insTTCCTCACGCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCCGCGTGAGGAAGCAGTGACCCCCTTCCCTCGTCCACGATCTGTGGGTGGG | gnomAD v4 |
2 | g.240869113_240869114insTTCCTCACTCGGGGGGGCTGGGTCTGACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC | CA2664005060 | AGXT | c.166-57_166-56insTTCCTCACTCGGGGGGGCTGGGTCTGACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC (n.166-57_166-56insTTCCTCACTCGGGGGGGCTGGGTCTGACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC) n.186-57_186-56insTTCCTCACTCGGGGGGGCTGGGTCTGACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC n.405+1158_405+1159insTACAGGGGTCAGACCCAGCCCCCCCGAGTGAGGAAGCAGTGACCCCCTTCCCTCGTCCACGATCTGTGGGTGGG | gnomAD v4 |
2 | g.240869113_240869114insTTCCTCACTCGGGGGGCCTGGATCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC | CA2664005151 | AGXT | c.166-57_166-56insTTCCTCACTCGGGGGGCCTGGATCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC (n.166-57_166-56insTTCCTCACTCGGGGGGCCTGGATCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC) n.186-57_186-56insTTCCTCACTCGGGGGGCCTGGATCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC n.405+1158_405+1159insTACAGGGGTGAGATCCAGGCCCCCCGAGTGAGGAAGCAGTGACCCCCTTCCCTCGTCCACGATCTGTGGGTGGG | gnomAD v4 |
2 | g.240869113_240869114insTTCCTCACTCGGGGGGCCTGGGCCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC | CA2505547104 | AGXT | c.166-57_166-56insTTCCTCACTCGGGGGGCCTGGGCCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC (n.166-57_166-56insTTCCTCACTCGGGGGGCCTGGGCCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC) n.186-57_186-56insTTCCTCACTCGGGGGGCCTGGGCCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC n.405+1158_405+1159insTACAGGGGTGAGGCCCAGGCCCCCCGAGTGAGGAAGCAGTGACCCCCTTCCCTCGTCCACGATCTGTGGGTGGG | |
2 | g.240869113_240869114insGTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC | CA2664005170 | AGXT | c.166-57_166-56insGTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC (n.166-57_166-56insGTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC) n.186-57_186-56insGTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGACGCAGTGACCCCCTTCCCTCGTCCACGATCTGTGGGTGGG | gnomAD v4 |
2 | g.240869113_240869114insTCCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC | CA1044064821 | AGXT | c.166-57_166-56insTCCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC (n.166-57_166-56insTCCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC) n.186-57_186-56insTCCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGGAGCAGTGACCCCCTTCCCTCGTCCACGATCTGTGGGTGGG | gnomAD v3 gnomAD v4 |
2 | g.240869113_240869114insTTCCACACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC | CA2754891890 | AGXT | c.166-57_166-56insTTCCACACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC (n.166-57_166-56insTTCCACACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC) n.186-57_186-56insTTCCACACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCCGAGTGTGGAAGCAGTGACCCCCTTCCCTCGTCCACGATCTGTGGGTGGG | |
2 | g.240869113_240869114insTTCCTCTCTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC | CA1044064814 | AGXT | c.166-57_166-56insTTCCTCTCTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC (n.166-57_166-56insTTCCTCTCTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC) n.186-57_186-56insTTCCTCTCTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCCGAGAGAGGAAGCAGTGACCCCCTTCCCTCGTCCACGATCTGTGGGTGGG | gnomAD v3 gnomAD v4 |
2 | g.240869113_240869114insTTCCTCACTCGGGGGACCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC | CA2664005158 | AGXT | c.166-57_166-56insTTCCTCACTCGGGGGACCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC (n.166-57_166-56insTTCCTCACTCGGGGGACCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC) n.186-57_186-56insTTCCTCACTCGGGGGACCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC n.405+1158_405+1159insTACAGGGGTGAGACCCAGGTCCCCCGAGTGAGGAAGCAGTGACCCCCTTCCCTCGTCCACGATCTGTGGGTGGG | gnomAD v4 |
2 | g.240869113_240869114insTTCCTCACTCGGGGGGCCTGGGTCCCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC | CA2664005073 | AGXT | c.166-57_166-56insTTCCTCACTCGGGGGGCCTGGGTCCCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC (n.166-57_166-56insTTCCTCACTCGGGGGGCCTGGGTCCCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC) n.186-57_186-56insTTCCTCACTCGGGGGGCCTGGGTCCCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC n.405+1158_405+1159insTACAGGGGTGGGACCCAGGCCCCCCGAGTGAGGAAGCAGTGACCCCCTTCCCTCGTCCACGATCTGTGGGTGGG | gnomAD v4 |
2 | g.240869113_240869114insTTCCTCACTCGGGGGGCCTGGGTCTCACACCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC | CA2664005069 | AGXT | c.166-57_166-56insTTCCTCACTCGGGGGGCCTGGGTCTCACACCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC (n.166-57_166-56insTTCCTCACTCGGGGGGCCTGGGTCTCACACCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC) n.186-57_186-56insTTCCTCACTCGGGGGGCCTGGGTCTCACACCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC n.405+1158_405+1159insTACAGGTGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGACCCCCTTCCCTCGTCCACGATCTGTGGGTGGG | gnomAD v4 |
2 | g.240869113_240869114insTTCCTCACTCAGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC | CA2664005161 | AGXT | c.166-57_166-56insTTCCTCACTCAGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC (n.166-57_166-56insTTCCTCACTCAGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC) n.186-57_186-56insTTCCTCACTCAGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCTGAGTGAGGAAGCAGTGACCCCCTTCCCTCGTCCACGATCTGTGGGTGGG | gnomAD v4 |
2 | g.240869113_240869114insTTCCTCACTCGGGGGGCCTGGGTTTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC | CA2664005062 | AGXT | c.166-57_166-56insTTCCTCACTCGGGGGGCCTGGGTTTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC (n.166-57_166-56insTTCCTCACTCGGGGGGCCTGGGTTTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC) n.186-57_186-56insTTCCTCACTCGGGGGGCCTGGGTTTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC n.405+1158_405+1159insTACAGGGGTGAAACCCAGGCCCCCCGAGTGAGGAAGCAGTGACCCCCTTCCCTCGTCCACGATCTGTGGGTGGG | gnomAD v4 |
2 | g.240869113_240869114insTTCCTCACTCGGGGGGCCTGGGTCTCATCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC | CA2664005064 | AGXT | c.166-57_166-56insTTCCTCACTCGGGGGGCCTGGGTCTCATCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC (n.166-57_166-56insTTCCTCACTCGGGGGGCCTGGGTCTCATCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC) n.186-57_186-56insTTCCTCACTCGGGGGGCCTGGGTCTCATCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC n.405+1158_405+1159insTACAGGGATGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGACCCCCTTCCCTCGTCCACGATCTGTGGGTGGG | gnomAD v4 |
2 | g.240869113_240869114insTTCCTCACTTGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC | CA1044064815 | AGXT | c.166-57_166-56insTTCCTCACTTGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC (n.166-57_166-56insTTCCTCACTTGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC) n.186-57_186-56insTTCCTCACTTGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCCAAGTGAGGAAGCAGTGACCCCCTTCCCTCGTCCACGATCTGTGGGTGGG | dbSNP gnomAD v3 gnomAD v4 |
2 | g.240869113_240869114insTTCCTCACTCGGGGGGCCTGGGTCTCACCACTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC | CA2664005068 | AGXT | c.166-57_166-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCACTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC (n.166-57_166-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCACTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC) n.186-57_186-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCACTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC n.405+1158_405+1159insTACAGTGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGACCCCCTTCCCTCGTCCACGATCTGTGGGTGGG | gnomAD v4 |
2 | g.240869113_240869114insTTCCTCACTCGGGGGTCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC | CA2664005059 | AGXT | c.166-57_166-56insTTCCTCACTCGGGGGTCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC (n.166-57_166-56insTTCCTCACTCGGGGGTCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC) n.186-57_186-56insTTCCTCACTCGGGGGTCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC n.405+1158_405+1159insTACAGGGGTGAGACCCAGGACCCCCGAGTGAGGAAGCAGTGACCCCCTTCCCTCGTCCACGATCTGTGGGTGGG | gnomAD v4 |
2 | g.240869113_240869114insTGCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC | CA540752881 | AGXT | c.166-57_166-56insTGCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC (n.166-57_166-56insTGCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC) n.186-57_186-56insTGCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGCAGCAGTGACCCCCTTCCCTCGTCCACGATCTGTGGGTGGG | dbSNP gnomAD v2 |
2 | g.240869113_240869114insTTCCTCACTCGGGGGGCCTGGGTCTCAACCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC | CA2664005071 | AGXT | c.166-57_166-56insTTCCTCACTCGGGGGGCCTGGGTCTCAACCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC (n.166-57_166-56insTTCCTCACTCGGGGGGCCTGGGTCTCAACCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC) n.186-57_186-56insTTCCTCACTCGGGGGGCCTGGGTCTCAACCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC n.405+1158_405+1159insTACAGGGTTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGACCCCCTTCCCTCGTCCACGATCTGTGGGTGGG | gnomAD v4 |
2 | g.240869113_240869114insTTCCTCACTGGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC | CA1044064816 | AGXT | c.166-57_166-56insTTCCTCACTGGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC (n.166-57_166-56insTTCCTCACTGGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC) n.186-57_186-56insTTCCTCACTGGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCCCAGTGAGGAAGCAGTGACCCCCTTCCCTCGTCCACGATCTGTGGGTGGG | gnomAD v3 gnomAD v4 |
2 | g.240869113_240869114insTTCCTCACTCGTGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC | CA2754891888 | AGXT | c.166-57_166-56insTTCCTCACTCGTGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC (n.166-57_166-56insTTCCTCACTCGTGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC) n.186-57_186-56insTTCCTCACTCGTGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCACGAGTGAGGAAGCAGTGACCCCCTTCCCTCGTCCACGATCTGTGGGTGGG | |
2 | g.240869113_240869114insTTCCTCACTCGGGGTGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC | CA2664005056 | AGXT | c.166-57_166-56insTTCCTCACTCGGGGTGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC (n.166-57_166-56insTTCCTCACTCGGGGTGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC) n.186-57_186-56insTTCCTCACTCGGGGTGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCACCCCGAGTGAGGAAGCAGTGACCCCCTTCCCTCGTCCACGATCTGTGGGTGGG | gnomAD v4 |
2 | g.240869113_240869114insTTCCTCACTCGGGGGGCCTGGGTCTGACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC | CA2664005063 | AGXT | c.166-57_166-56insTTCCTCACTCGGGGGGCCTGGGTCTGACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC (n.166-57_166-56insTTCCTCACTCGGGGGGCCTGGGTCTGACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC) n.186-57_186-56insTTCCTCACTCGGGGGGCCTGGGTCTGACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC n.405+1158_405+1159insTACAGGGGTCAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGACCCCCTTCCCTCGTCCACGATCTGTGGGTGGG | gnomAD v4 |
2 | g.240869113_240869114insTTCCTCACTCGGGGGGCCTGGGGCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC | CA1044064820 | AGXT | c.166-57_166-56insTTCCTCACTCGGGGGGCCTGGGGCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC (n.166-57_166-56insTTCCTCACTCGGGGGGCCTGGGGCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC) n.186-57_186-56insTTCCTCACTCGGGGGGCCTGGGGCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC n.405+1158_405+1159insTACAGGGGTGAGCCCCAGGCCCCCCGAGTGAGGAAGCAGTGACCCCCTTCCCTCGTCCACGATCTGTGGGTGGG | gnomAD v3 gnomAD v4 |
2 | g.240869113_240869114insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTATACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC | CA2664005066 | AGXT | c.166-57_166-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTATACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC (n.166-57_166-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTATACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC) n.186-57_186-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTATACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC n.405+1158_405+1159insTATAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGACCCCCTTCCCTCGTCCACGATCTGTGGGTGGG | gnomAD v4 |
2 | g.240869113_240869114insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC | CA2209004 | AGXT | c.166-57_166-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC (n.166-57_166-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC) n.186-57_186-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGACCCCCTTCCCTCGTCCACGATCTGTGGGTGGG | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240869113_240869114insTTCCTCACTCGGGGGGCCTGGGTCTCACCTCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC | CA2664005052 | AGXT | c.166-57_166-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCTCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC (n.166-57_166-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCTCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC) n.186-57_186-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCTCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC n.405+1158_405+1159insTACAGAGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGACCCCCTTCCCTCGTCCACGATCTGTGGGTGGG | gnomAD v4 |
2 | g.240869113_240869114insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTTTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC | CA2664005065 | AGXT | c.166-57_166-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTTTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC (n.166-57_166-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTTTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC) n.186-57_186-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTTTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC n.405+1158_405+1159insTAAAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGACCCCCTTCCCTCGTCCACGATCTGTGGGTGGG | gnomAD v4 |
2 | g.240869113_240869114insTTCCTCACTCGGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC | CA2664005061 | AGXT | c.166-57_166-56insTTCCTCACTCGGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC (n.166-57_166-56insTTCCTCACTCGGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC) n.186-57_186-56insTTCCTCACTCGGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCCCGAGTGAGGAAGCAGTGACCCCCTTCCCTCGTCCACGATCTGTGGGTGGG | gnomAD v4 |
2 | g.240869076C>T | CA2664005244 | AGXT | c.165+46C>T (n.165+46C>T) n.185+46C>T n.405+1157G>A | gnomAD v4 |
2 | g.240869077_240869078insCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACC | CA647781043 | AGXT | c.165+47_165+48insCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACC (n.165+47_165+48insCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACC) n.185+47_185+48insCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACC n.405+1157_405+1158insTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGACCCCCTTCCCTCGTCCACGATCTGTGGGTGGG | COSMIC |
2 | g.240869113_240869114insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTATCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC | CA2664005250 | AGXT | c.166-57_166-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTATCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC (n.166-57_166-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTATCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC) n.186-57_186-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTATCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC n.405+1157_405+1158insATACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGACCCCCTTCCCTCGTCCACGATCTGTGGGTGG | gnomAD v4 |
2 | g.240869113_240869114insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACACACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC | CA2664005253 | AGXT | c.166-57_166-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACACACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC (n.166-57_166-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACACACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC) n.186-57_186-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACACACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC n.405+1156_405+1157insTGTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGACCCCCTTCCCTCGTCCACGATCTGTGGGTG | gnomAD v4 |
2 | g.240869113_240869114insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCTACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC | CA2664005256 | AGXT | c.166-57_166-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCTACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC (n.166-57_166-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCTACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC) n.186-57_186-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCTACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC n.405+1155_405+1156insAGGTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGACCCCCTTCCCTCGTCCACGATCTGTGGGT | gnomAD v4 |
2 | g.240869079C>A | CA2664005260 | AGXT | c.165+49C>A (n.165+49C>A) n.185+49C>A n.405+1154G>T | gnomAD v4 |
2 | g.240869081del | CA2664005257 | AGXT | c.165+51del (n.165+51del) n.185+51del n.405+1154del | gnomAD v4 |
2 | g.240869080C>A | CA2664005264 | AGXT | c.165+50C>A (n.165+50C>A) n.185+50C>A n.405+1153G>T | gnomAD v4 |
2 | g.240869080C>T | CA2664005266 | AGXT | c.165+50C>T (n.165+50C>T) n.185+50C>T n.405+1153G>A | gnomAD v4 |
2 | g.240869113_240869114insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCATCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC | CA2510054526 | AGXT | c.166-57_166-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCATCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC (n.166-57_166-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCATCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC) n.186-57_186-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCATCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC n.405+1153_405+1154insATGGGTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGACCCCCTTCCCTCGTCCACGATCTGTGG | |
2 | g.240869081C>A | CA2664005273 | AGXT | c.165+51C>A (n.165+51C>A) n.185+51C>A n.405+1152G>T | gnomAD v4 |
2 | g.240869081C= | CA1339330854 | AGXT | c.165+51C= (n.165+51C=) n.185+51C= n.405+1152G= | |
2 | g.240869081C>T | CA2209009 | AGXT | c.165+51C>T (n.165+51C>T) n.185+51C>T n.405+1152G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.240869113_240869114insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACTCACAGATCGTGGACGAGGGAAGGGGGTCACTGC | CA2664005270 | AGXT | c.166-57_166-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACTCACAGATCGTGGACGAGGGAAGGGGGTCACTGC (n.166-57_166-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACTCACAGATCGTGGACGAGGGAAGGGGGTCACTGC) n.186-57_186-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACTCACAGATCGTGGACGAGGGAAGGGGGTCACTGC n.405+1152_405+1153insAGTGGGTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGACCCCCTTCCCTCGTCCACGATCTGTG | gnomAD v4 |
2 | g.240869083C= | CA1339330855 | AGXT | c.165+53C= (n.165+53C=) n.185+53C= n.405+1150G= | |
2 | g.240869083C>G | CA766960524 | AGXT | c.165+53C>G (n.165+53C>G) n.185+53C>G n.405+1150G>C | dbSNP |
2 | g.240869084A= | CA1339330856 | AGXT | c.165+54A= (n.165+54A=) n.185+54A= n.405+1149T= | |
2 | g.240869084A>G | CA766960526 | AGXT | c.165+54A>G (n.165+54A>G) n.185+54A>G n.405+1149T>C | dbSNP |
2 | g.240869085G>A | CA68173611 | AGXT | c.165+55G>A (n.165+55G>A) n.185+55G>A n.405+1148C>T | dbSNP gnomAD v4 |
2 | g.240869085G= | CA1339330857 | AGXT | c.165+55G= (n.165+55G=) n.185+55G= n.405+1148C= | |
2 | g.240869085G>T | CA1339330858 | AGXT | c.165+55G>T (n.165+55G>T) n.185+55G>T n.405+1148C>A | dbSNP |
2 | g.240869113_240869114insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACGGATCGTGGACGAGGGAAGGGGGTCACTGC | CA2664005279 | AGXT | c.166-57_166-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACGGATCGTGGACGAGGGAAGGGGGTCACTGC (n.166-57_166-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACGGATCGTGGACGAGGGAAGGGGGTCACTGC) n.186-57_186-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACGGATCGTGGACGAGGGAAGGGGGTCACTGC n.405+1148_405+1149insCGTGGGTGGGTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGACCCCCTTCCCTCGTCCACGATC | gnomAD v4 |
2 | g.240869113_240869114insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACCGATCGTGGACGAGGGAAGGGGGTCACTGC | CA2664005276 | AGXT | c.166-57_166-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACCGATCGTGGACGAGGGAAGGGGGTCACTGC (n.166-57_166-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACCGATCGTGGACGAGGGAAGGGGGTCACTGC) n.186-57_186-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACCGATCGTGGACGAGGGAAGGGGGTCACTGC n.405+1148_405+1149insGGTGGGTGGGTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGACCCCCTTCCCTCGTCCACGATC | gnomAD v4 |
2 | g.240869086A>G | CA2664005281 | AGXT | c.165+56A>G (n.165+56A>G) n.185+56A>G n.405+1147T>C | gnomAD v4 |
2 | g.240869113_240869114insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACATATCGTGGACGAGGGAAGGGGGTCACTGC | CA2664005280 | AGXT | c.166-57_166-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACATATCGTGGACGAGGGAAGGGGGTCACTGC (n.166-57_166-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACATATCGTGGACGAGGGAAGGGGGTCACTGC) n.186-57_186-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACATATCGTGGACGAGGGAAGGGGGTCACTGC n.405+1147_405+1148insATGTGGGTGGGTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGACCCCCTTCCCTCGTCCACGAT | gnomAD v4 |
2 | g.240869087T>A | CA540752882 | AGXT | c.165+57T>A (n.165+57T>A) n.185+57T>A n.405+1146A>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240869087T= | CA1339330859 | AGXT | c.165+57T= (n.165+57T=) n.185+57T= n.405+1146A= | |
2 | g.240869113_240869114insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGCTCGTGGACGAGGGAAGGGGGTCACTGC | CA1044064832 | AGXT | c.166-57_166-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGCTCGTGGACGAGGGAAGGGGGTCACTGC (n.166-57_166-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGCTCGTGGACGAGGGAAGGGGGTCACTGC) n.186-57_186-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGCTCGTGGACGAGGGAAGGGGGTCACTGC n.405+1146_405+1147insGCTGTGGGTGGGTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGACCCCCTTCCCTCGTCCACGA | gnomAD v3 gnomAD v4 |
2 | g.240869088C= | CA1339330860 | AGXT | c.165+58C= (n.165+58C=) n.185+58C= n.405+1145G= | |
2 | g.240869088C>T | CA540752883 | AGXT | c.165+58C>T (n.165+58C>T) n.185+58C>T n.405+1145G>A | dbSNP gnomAD v2 gnomAD v4 |
2 | g.240869113_240869114insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGAGCGTGGACGAGGGAAGGGGGTCACTGC | CA2664005283 | AGXT | c.166-57_166-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGAGCGTGGACGAGGGAAGGGGGTCACTGC (n.166-57_166-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGAGCGTGGACGAGGGAAGGGGGTCACTGC) n.186-57_186-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGAGCGTGGACGAGGGAAGGGGGTCACTGC n.405+1145_405+1146insCTCTGTGGGTGGGTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGACCCCCTTCCCTCGTCCACG | gnomAD v4 |
2 | g.240869088_240869089insACGGAAGAGGGGAGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATT | CA1044064833 | AGXT | c.165+58_165+59insACGGAAGAGGGGAGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATT (n.165+58_165+59insACGGAAGAGGGGAGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATT) n.185+58_185+59insACGGAAGAGGGGAGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATT n.405+1144_405+1145insAATCTGTGGGTGGGTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGACCCCTCCCCTCTTCCGT | dbSNP gnomAD v3 gnomAD v4 |
2 | g.240869089G>A | CA68173613 | AGXT | c.165+59G>A (n.165+59G>A) n.185+59G>A n.405+1144C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240869089G>C | CA2664005289 | AGXT | c.165+59G>C (n.165+59G>C) n.185+59G>C n.405+1144C>G | gnomAD v4 |
2 | g.240869089G= | CA1339330861 | AGXT | c.165+59G= (n.165+59G=) n.185+59G= n.405+1144C= | |
2 | g.240869089_240869090delinsAC | CA68173635 | AGXT | c.165+59_165+60delinsAC (n.165+59_165+60delinsAC) n.185+59_185+60delinsAC n.405+1143_405+1144delinsGT | dbSNP |
2 | g.240869089_240869090delinsGT | CA1339330862 | AGXT | c.165+59_165+60delinsGT (n.165+59_165+60delinsGT) n.185+59_185+60delinsGT n.405+1143_405+1144delinsAC | |
2 | g.240869089_240869092del | CA1044064834 | AGXT | c.165+59_165+62del (n.165+59_165+62del) n.185+59_185+62del n.405+1141_405+1144del | gnomAD v3 gnomAD v4 |
2 | g.240869090T>C | CA540752884 | AGXT | c.165+60T>C (n.165+60T>C) n.185+60T>C n.405+1143A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240869090T>G | CA766960541 | AGXT | c.165+60T>G (n.165+60T>G) n.185+60T>G n.405+1143A>C | dbSNP |
2 | g.240869090T= | CA1339330863 | AGXT | c.165+60T= (n.165+60T=) n.185+60T= n.405+1143A= | |
2 | g.240869113_240869114insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCATGGACGAGGGAAGGGGGTCACTGC | CA2664005295 | AGXT | c.166-57_166-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCATGGACGAGGGAAGGGGGTCACTGC (n.166-57_166-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCATGGACGAGGGAAGGGGGTCACTGC) n.186-57_186-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCATGGACGAGGGAAGGGGGTCACTGC n.405+1143_405+1144insTGATCTGTGGGTGGGTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGACCCCCTTCCCTCGTCCA | gnomAD v4 |
2 | g.240869113_240869114insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCTTGGACGAGGGAAGGGGGTCACTGC | CA2664005294 | AGXT | c.166-57_166-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCTTGGACGAGGGAAGGGGGTCACTGC (n.166-57_166-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCTTGGACGAGGGAAGGGGGTCACTGC) n.186-57_186-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCTTGGACGAGGGAAGGGGGTCACTGC n.405+1143_405+1144insAGATCTGTGGGTGGGTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGACCCCCTTCCCTCGTCCA | gnomAD v4 |