| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.136517850C>A | CA375563137 | NOTCH1 | c.1343G>T (p.Arg448Leu) c.*579G>T (n.*579G>T) c.644G>T (p.Arg215Leu) c.620G>T (p.Arg207Leu) | COSMIC COSMIC |
| 9 | g.136517850C>G | CA375563138 | NOTCH1 | c.1343G>C (p.Arg448Pro) c.*579G>C (n.*579G>C) c.644G>C (p.Arg215Pro) c.620G>C (p.Arg207Pro) | dbSNP |
| 9 | g.136517850C>T | CA348264 | NOTCH1 | c.1343G>A (p.Arg448Gln) c.*579G>A (n.*579G>A) c.644G>A (p.Arg215Gln) c.620G>A (p.Arg207Gln) | ClinVar dbSNP |
| 9 | g.136517851G>A | CA352076 | NOTCH1 | c.1342C>T (p.Arg448Ter) c.*578C>T (n.*578C>T) c.643C>T (p.Arg215Ter) c.619C>T (p.Arg207Ter) | ClinVar dbSNP |
| 9 | g.136517851G>C | CA375563141 | NOTCH1 | c.1342C>G (p.Arg448Gly) c.*578C>G (n.*578C>G) c.643C>G (p.Arg215Gly) c.619C>G (p.Arg207Gly) | dbSNP |
| 9 | g.136517851G>T | CA467718217 | NOTCH1 | c.1342C>A (p.Arg448=) c.*578C>A (n.*578C>A) c.643C>A (p.Arg215=) c.619C>A (p.Arg207=) | dbSNP |
| 9 | g.136517855del | CA2695202257 | NOTCH1 | c.1342del (p.Arg448AspfsTer?) c.*578del (n.*578del) c.643del (p.Arg215AspfsTer?) c.619del (p.Arg207AspfsTer?) | |
| 9 | g.136517852G>A | CA467718218 | NOTCH1 | c.1341C>T (p.Pro447=) c.*577C>T (n.*577C>T) c.642C>T (p.Pro214=) c.618C>T (p.Pro206=) | |
| 9 | g.136517852G>C | CA467718219 | NOTCH1 | c.1341C>G (p.Pro447=) c.*577C>G (n.*577C>G) c.642C>G (p.Pro214=) c.618C>G (p.Pro206=) | dbSNP |
| 9 | g.136517852G>T | CA467718220 | NOTCH1 | c.1341C>A (p.Pro447=) c.*577C>A (n.*577C>A) c.642C>A (p.Pro214=) c.618C>A (p.Pro206=) | |
| 9 | g.136517853G>A | CA375563145 | NOTCH1 | c.1340C>T (p.Pro447Leu) c.*576C>T (n.*576C>T) c.641C>T (p.Pro214Leu) c.617C>T (p.Pro206Leu) | dbSNP gnomAD v4 COSMIC COSMIC |
| 9 | g.136517853G>C | CA375563144 | NOTCH1 | c.1340C>G (p.Pro447Arg) c.*576C>G (n.*576C>G) c.641C>G (p.Pro214Arg) c.617C>G (p.Pro206Arg) | |
| 9 | g.136517853G>T | CA375563143 | NOTCH1 | c.1340C>A (p.Pro447His) c.*576C>A (n.*576C>A) c.641C>A (p.Pro214His) c.617C>A (p.Pro206His) | dbSNP |
| 9 | g.136517854G>A | CA375563147 | NOTCH1 | c.1339C>T (p.Pro447Ser) c.*575C>T (n.*575C>T) c.640C>T (p.Pro214Ser) c.616C>T (p.Pro206Ser) | dbSNP |
| 9 | g.136517854G>C | CA375563150 | NOTCH1 | c.1339C>G (p.Pro447Ala) c.*575C>G (n.*575C>G) c.640C>G (p.Pro214Ala) c.616C>G (p.Pro206Ala) | |
| 9 | g.136517854G>T | CA375563149 | NOTCH1 | c.1339C>A (p.Pro447Thr) c.*575C>A (n.*575C>A) c.640C>A (p.Pro214Thr) c.616C>A (p.Pro206Thr) | dbSNP |
| 9 | g.136517855G>A | CA467718222 | NOTCH1 | c.1338C>T (p.Gly446=) c.*574C>T (n.*574C>T) c.639C>T (p.Gly213=) c.615C>T (p.Gly205=) | |
| 9 | g.136517855G>C | CA467718223 | NOTCH1 | c.1338C>G (p.Gly446=) c.*574C>G (n.*574C>G) c.639C>G (p.Gly213=) c.615C>G (p.Gly205=) | |
| 9 | g.136517855G>T | CA467718224 | NOTCH1 | c.1338C>A (p.Gly446=) c.*574C>A (n.*574C>A) c.639C>A (p.Gly213=) c.615C>A (p.Gly205=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.136517856C>A | CA375563151 | NOTCH1 | c.1337G>T (p.Gly446Val) c.*573G>T (n.*573G>T) c.638G>T (p.Gly213Val) c.614G>T (p.Gly205Val) | dbSNP |
| 9 | g.136517856C>G | CA375563153 | NOTCH1 | c.1337G>C (p.Gly446Ala) c.*573G>C (n.*573G>C) c.638G>C (p.Gly213Ala) c.614G>C (p.Gly205Ala) | dbSNP |
| 9 | g.136517856C>T | CA375563155 | NOTCH1 | c.1337G>A (p.Gly446Asp) c.*573G>A (n.*573G>A) c.638G>A (p.Gly213Asp) c.614G>A (p.Gly205Asp) | dbSNP |
| 9 | g.136517858del | CA645562534 | NOTCH1 | c.1337del (p.Gly446AlafsTer?) c.*573del (n.*573del) c.638del (p.Gly213AlafsTer?) c.614del (p.Gly205AlafsTer?) | COSMIC COSMIC |
| 9 | g.136517857C>A | CA375563157 | NOTCH1 | c.1336G>T (p.Gly446Cys) c.*572G>T (n.*572G>T) c.637G>T (p.Gly213Cys) c.613G>T (p.Gly205Cys) | ClinVar dbSNP |
| 9 | g.136517857C>G | CA375563158 | NOTCH1 | c.1336G>C (p.Gly446Arg) c.*572G>C (n.*572G>C) c.637G>C (p.Gly213Arg) c.613G>C (p.Gly205Arg) | dbSNP |
| 9 | g.136517857C>T | CA375563159 | NOTCH1 | c.1336G>A (p.Gly446Ser) c.*572G>A (n.*572G>A) c.637G>A (p.Gly213Ser) c.613G>A (p.Gly205Ser) | dbSNP |
| 9 | g.136517858C>A | CA467718225 | NOTCH1 | c.1335G>T (p.Thr445=) c.*571G>T (n.*571G>T) c.636G>T (p.Thr212=) c.612G>T (p.Thr204=) | dbSNP COSMIC |
| 9 | g.136517858C>G | CA467718226 | NOTCH1 | c.1335G>C (p.Thr445=) c.*571G>C (n.*571G>C) c.636G>C (p.Thr212=) c.612G>C (p.Thr204=) | dbSNP gnomAD v4 |
| 9 | g.136517858C>T | CA5341833 | NOTCH1 | c.1335G>A (p.Thr445=) c.*571G>A (n.*571G>A) c.636G>A (p.Thr212=) c.612G>A (p.Thr204=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.136517859del | CA645562535 | NOTCH1 | c.1334del (p.Thr445ArgfsTer?) c.*570del (n.*570del) c.635del (p.Thr212ArgfsTer?) c.611del (p.Thr204ArgfsTer?) | COSMIC COSMIC |
| 9 | g.136517859G>A | CA5341834 | NOTCH1 | c.1334C>T (p.Thr445Met) c.*570C>T (n.*570C>T) c.635C>T (p.Thr212Met) c.611C>T (p.Thr204Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.136517859G>C | CA375563163 | NOTCH1 | c.1334C>G (p.Thr445Arg) c.*570C>G (n.*570C>G) c.635C>G (p.Thr212Arg) c.611C>G (p.Thr204Arg) | dbSNP |
| 9 | g.136517859G>T | CA375563164 | NOTCH1 | c.1334C>A (p.Thr445Lys) c.*570C>A (n.*570C>A) c.635C>A (p.Thr212Lys) c.611C>A (p.Thr204Lys) | |
| 9 | g.136517860T>A | CA375563172 | NOTCH1 | c.1333A>T (p.Thr445Ser) c.*569A>T (n.*569A>T) c.634A>T (p.Thr212Ser) c.610A>T (p.Thr204Ser) | |
| 9 | g.136517860T>C | CA375563169 | NOTCH1 | c.1333A>G (p.Thr445Ala) c.*569A>G (n.*569A>G) c.634A>G (p.Thr212Ala) c.610A>G (p.Thr204Ala) | |
| 9 | g.136517860T>G | CA375563167 | NOTCH1 | c.1333A>C (p.Thr445Pro) c.*569A>C (n.*569A>C) c.634A>C (p.Thr212Pro) c.610A>C (p.Thr204Pro) | |
| 9 | g.136517861G>A | CA467718227 | NOTCH1 | c.1332C>T (p.Tyr444=) c.*568C>T (n.*568C>T) c.633C>T (p.Tyr211=) c.609C>T (p.Tyr203=) | dbSNP |
| 9 | g.136517861G>C | CA375563175 | NOTCH1 | c.1332C>G (p.Tyr444Ter) c.*568C>G (n.*568C>G) c.633C>G (p.Tyr211Ter) c.609C>G (p.Tyr203Ter) | dbSNP |
| 9 | g.136517861G>T | CA375563178 | NOTCH1 | c.1332C>A (p.Tyr444Ter) c.*568C>A (n.*568C>A) c.633C>A (p.Tyr211Ter) c.609C>A (p.Tyr203Ter) | |
| 9 | g.136517862T>A | CA375563181 | NOTCH1 | c.1331A>T (p.Tyr444Phe) c.*567A>T (n.*567A>T) c.632A>T (p.Tyr211Phe) c.608A>T (p.Tyr203Phe) | dbSNP |
| 9 | g.136517862T>C | CA375563182 | NOTCH1 | c.1331A>G (p.Tyr444Cys) c.*567A>G (n.*567A>G) c.632A>G (p.Tyr211Cys) c.608A>G (p.Tyr203Cys) | dbSNP |
| 9 | g.136517862T>G | CA375563184 | NOTCH1 | c.1331A>C (p.Tyr444Ser) c.*567A>C (n.*567A>C) c.632A>C (p.Tyr211Ser) c.608A>C (p.Tyr203Ser) | dbSNP |
| 9 | g.136517863A>C | CA375563187 | NOTCH1 | c.1330T>G (p.Tyr444Asp) c.*566T>G (n.*566T>G) c.631T>G (p.Tyr211Asp) c.607T>G (p.Tyr203Asp) | dbSNP |
| 9 | g.136517863A>G | CA375563189 | NOTCH1 | c.1330T>C (p.Tyr444His) c.*566T>C (n.*566T>C) c.631T>C (p.Tyr211His) c.607T>C (p.Tyr203His) | dbSNP |
| 9 | g.136517863A>T | CA375563191 | NOTCH1 | c.1330T>A (p.Tyr444Asn) c.*566T>A (n.*566T>A) c.631T>A (p.Tyr211Asn) c.607T>A (p.Tyr203Asn) | dbSNP |
| 9 | g.136517864G>A | CA467718228 | NOTCH1 | c.1329C>T (p.Gly443=) c.*565C>T (n.*565C>T) c.630C>T (p.Gly210=) c.606C>T (p.Gly202=) | gnomAD v4 |
| 9 | g.136517864G>C | CA467718229 | NOTCH1 | c.1329C>G (p.Gly443=) c.*565C>G (n.*565C>G) c.630C>G (p.Gly210=) c.606C>G (p.Gly202=) | |
| 9 | g.136517864G>T | CA467718230 | NOTCH1 | c.1329C>A (p.Gly443=) c.*565C>A (n.*565C>A) c.630C>A (p.Gly210=) c.606C>A (p.Gly202=) | |
| 9 | g.136517865C>A | CA375563192 | NOTCH1 | c.1328G>T (p.Gly443Val) c.*564G>T (n.*564G>T) c.629G>T (p.Gly210Val) c.605G>T (p.Gly202Val) | |
| 9 | g.136517865C>G | CA375563194 | NOTCH1 | c.1328G>C (p.Gly443Ala) c.*564G>C (n.*564G>C) c.629G>C (p.Gly210Ala) c.605G>C (p.Gly202Ala) | |
| 9 | g.136517865C>T | CA375563196 | NOTCH1 | c.1328G>A (p.Gly443Asp) c.*564G>A (n.*564G>A) c.629G>A (p.Gly210Asp) c.605G>A (p.Gly202Asp) | COSMIC COSMIC |
| 9 | g.136517866C>A | CA375563199 | NOTCH1 | c.1327G>T (p.Gly443Cys) c.*563G>T (n.*563G>T) c.628G>T (p.Gly210Cys) c.604G>T (p.Gly202Cys) | dbSNP |
| 9 | g.136517866C>G | CA375563201 | NOTCH1 | c.1327G>C (p.Gly443Arg) c.*563G>C (n.*563G>C) c.628G>C (p.Gly210Arg) c.604G>C (p.Gly202Arg) | dbSNP |
| 9 | g.136517866C>T | CA375563198 | NOTCH1 | c.1327G>A (p.Gly443Ser) c.*563G>A (n.*563G>A) c.628G>A (p.Gly210Ser) c.604G>A (p.Gly202Ser) | COSMIC COSMIC |
| 9 | g.136517867C>A | CA375563203 | NOTCH1 | c.1326G>T (p.Gln442His) c.*562G>T (n.*562G>T) c.627G>T (p.Gln209His) c.603G>T (p.Gln201His) | |
| 9 | g.136517867C>G | CA375563206 | NOTCH1 | c.1326G>C (p.Gln442His) c.*562G>C (n.*562G>C) c.627G>C (p.Gln209His) c.603G>C (p.Gln201His) | |
| 9 | g.136517867C>T | CA467718231 | NOTCH1 | c.1326G>A (p.Gln442=) c.*562G>A (n.*562G>A) c.627G>A (p.Gln209=) c.603G>A (p.Gln201=) | |
| 9 | g.136517868T>A | CA375563209 | NOTCH1 | c.1325A>T (p.Gln442Leu) c.*561A>T (n.*561A>T) c.626A>T (p.Gln209Leu) c.602A>T (p.Gln201Leu) | dbSNP |
| 9 | g.136517868T>C | CA375563213 | NOTCH1 | c.1325A>G (p.Gln442Arg) c.*561A>G (n.*561A>G) c.626A>G (p.Gln209Arg) c.602A>G (p.Gln201Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.136517868T>G | CA375563220 | NOTCH1 | c.1325A>C (p.Gln442Pro) c.*561A>C (n.*561A>C) c.626A>C (p.Gln209Pro) c.602A>C (p.Gln201Pro) | ClinVar |
| 9 | g.136517869G>A | CA375563221 | NOTCH1 | c.1324C>T (p.Gln442Ter) c.*560C>T (n.*560C>T) c.625C>T (p.Gln209Ter) c.601C>T (p.Gln201Ter) | dbSNP COSMIC COSMIC |
| 9 | g.136517869G>C | CA375563222 | NOTCH1 | c.1324C>G (p.Gln442Glu) c.*560C>G (n.*560C>G) c.625C>G (p.Gln209Glu) c.601C>G (p.Gln201Glu) | dbSNP |
| 9 | g.136517869G>T | CA375563224 | NOTCH1 | c.1324C>A (p.Gln442Lys) c.*560C>A (n.*560C>A) c.625C>A (p.Gln209Lys) c.601C>A (p.Gln201Lys) | dbSNP |
| 9 | g.136517870C>A | CA467718234 | NOTCH1 | c.1323G>T (p.Leu441=) c.*559G>T (n.*559G>T) c.624G>T (p.Leu208=) c.600G>T (p.Leu200=) | |
| 9 | g.136517870C>G | CA467718232 | NOTCH1 | c.1323G>C (p.Leu441=) c.*559G>C (n.*559G>C) c.624G>C (p.Leu208=) c.600G>C (p.Leu200=) | dbSNP |
| 9 | g.136517870C>T | CA467718233 | NOTCH1 | c.1323G>A (p.Leu441=) c.*559G>A (n.*559G>A) c.624G>A (p.Leu208=) c.600G>A (p.Leu200=) | dbSNP gnomAD v4 |
| 9 | g.136517871A>C | CA201587574 | NOTCH1 | c.1322T>G (p.Leu441Arg) c.*558T>G (n.*558T>G) c.623T>G (p.Leu208Arg) c.599T>G (p.Leu200Arg) | dbSNP gnomAD v4 |
| 9 | g.136517871A>G | CA375563233 | NOTCH1 | c.1322T>C (p.Leu441Pro) c.*558T>C (n.*558T>C) c.623T>C (p.Leu208Pro) c.599T>C (p.Leu200Pro) | dbSNP |
| 9 | g.136517871A>T | CA375563237 | NOTCH1 | c.1322T>A (p.Leu441Gln) c.*558T>A (n.*558T>A) c.623T>A (p.Leu208Gln) c.599T>A (p.Leu200Gln) | dbSNP |
| 9 | g.136517872G>A | CA467718238 | NOTCH1 | c.1321C>T (p.Leu441=) c.*557C>T (n.*557C>T) c.622C>T (p.Leu208=) c.598C>T (p.Leu200=) | dbSNP |
| 9 | g.136517872G>C | CA375563240 | NOTCH1 | c.1321C>G (p.Leu441Val) c.*557C>G (n.*557C>G) c.622C>G (p.Leu208Val) c.598C>G (p.Leu200Val) | dbSNP |
| 9 | g.136517872G>T | CA375563242 | NOTCH1 | c.1321C>A (p.Leu441Met) c.*557C>A (n.*557C>A) c.622C>A (p.Leu208Met) c.598C>A (p.Leu200Met) | |
| 9 | g.136517873A>C | CA375563249 | NOTCH1 | c.1320T>G (p.Cys440Trp) c.*556T>G (n.*556T>G) c.621T>G (p.Cys207Trp) c.597T>G (p.Cys199Trp) | dbSNP |
| 9 | g.136517873A>G | CA467718239 | NOTCH1 | c.1320T>C (p.Cys440=) c.*556T>C (n.*556T>C) c.621T>C (p.Cys207=) c.597T>C (p.Cys199=) | |
| 9 | g.136517873A>T | CA375563246 | NOTCH1 | c.1320T>A (p.Cys440Ter) c.*556T>A (n.*556T>A) c.621T>A (p.Cys207Ter) c.597T>A (p.Cys199Ter) | dbSNP |
| 9 | g.136517874C>A | CA375563252 | NOTCH1 | c.1319G>T (p.Cys440Phe) c.*555G>T (n.*555G>T) c.620G>T (p.Cys207Phe) c.596G>T (p.Cys199Phe) | COSMIC COSMIC |
| 9 | g.136517874C>G | CA375563255 | NOTCH1 | c.1319G>C (p.Cys440Ser) c.*555G>C (n.*555G>C) c.620G>C (p.Cys207Ser) c.596G>C (p.Cys199Ser) | dbSNP COSMIC COSMIC |
| 9 | g.136517874C>T | CA375563258 | NOTCH1 | c.1319G>A (p.Cys440Tyr) c.*555G>A (n.*555G>A) c.620G>A (p.Cys207Tyr) c.596G>A (p.Cys199Tyr) | dbSNP |
| 9 | g.136517875A>C | CA375563261 | NOTCH1 | c.1318T>G (p.Cys440Gly) c.*554T>G (n.*554T>G) c.619T>G (p.Cys207Gly) c.595T>G (p.Cys199Gly) | dbSNP |
| 9 | g.136517875A>G | CA375563263 | NOTCH1 | c.1318T>C (p.Cys440Arg) c.*554T>C (n.*554T>C) c.619T>C (p.Cys207Arg) c.595T>C (p.Cys199Arg) | dbSNP |
| 9 | g.136517875A>T | CA375563265 | NOTCH1 | c.1318T>A (p.Cys440Ser) c.*554T>A (n.*554T>A) c.619T>A (p.Cys207Ser) c.595T>A (p.Cys199Ser) | dbSNP COSMIC COSMIC |
| 9 | g.136517876C>A | CA375563267 | NOTCH1 | c.1317G>T (p.Gln439His) c.*553G>T (n.*553G>T) c.618G>T (p.Gln206His) c.594G>T (p.Gln198His) | |
| 9 | g.136517876C>G | CA375563269 | NOTCH1 | c.1317G>C (p.Gln439His) c.*553G>C (n.*553G>C) c.618G>C (p.Gln206His) c.594G>C (p.Gln198His) | dbSNP |
| 9 | g.136517876C>T | CA467718241 | NOTCH1 | c.1317G>A (p.Gln439=) c.*553G>A (n.*553G>A) c.618G>A (p.Gln206=) c.594G>A (p.Gln198=) | |
| 9 | g.136517877T>A | CA375563271 | NOTCH1 | c.1316A>T (p.Gln439Leu) c.*552A>T (n.*552A>T) c.617A>T (p.Gln206Leu) c.593A>T (p.Gln198Leu) | |
| 9 | g.136517877T>C | CA375563273 | NOTCH1 | c.1316A>G (p.Gln439Arg) c.*552A>G (n.*552A>G) c.617A>G (p.Gln206Arg) c.593A>G (p.Gln198Arg) | gnomAD v4 |
| 9 | g.136517877T>G | CA375563276 | NOTCH1 | c.1316A>C (p.Gln439Pro) c.*552A>C (n.*552A>C) c.617A>C (p.Gln206Pro) c.593A>C (p.Gln198Pro) | |
| 9 | g.136517878G>A | CA375563282 | NOTCH1 | c.1315C>T (p.Gln439Ter) c.*551C>T (n.*551C>T) c.616C>T (p.Gln206Ter) c.592C>T (p.Gln198Ter) | dbSNP COSMIC COSMIC |
| 9 | g.136517878G>C | CA375563284 | NOTCH1 | c.1315C>G (p.Gln439Glu) c.*551C>G (n.*551C>G) c.616C>G (p.Gln206Glu) c.592C>G (p.Gln198Glu) | |
| 9 | g.136517878G>T | CA375563286 | NOTCH1 | c.1315C>A (p.Gln439Lys) c.*551C>A (n.*551C>A) c.616C>A (p.Gln206Lys) c.592C>A (p.Gln198Lys) | |
| 9 | g.136517879G>A | CA467718245 | NOTCH1 | c.1314C>T (p.Cys438=) c.*550C>T (n.*550C>T) c.615C>T (p.Cys205=) c.591C>T (p.Cys197=) | dbSNP |
| 9 | g.136517879G>C | CA375563292 | NOTCH1 | c.1314C>G (p.Cys438Trp) c.*550C>G (n.*550C>G) c.615C>G (p.Cys205Trp) c.591C>G (p.Cys197Trp) | dbSNP |
| 9 | g.136517879G>T | CA375563290 | NOTCH1 | c.1314C>A (p.Cys438Ter) c.*550C>A (n.*550C>A) c.615C>A (p.Cys205Ter) c.591C>A (p.Cys197Ter) | dbSNP |
| 9 | g.136517880C>A | CA375563296 | NOTCH1 | c.1313G>T (p.Cys438Phe) c.*549G>T (n.*549G>T) c.614G>T (p.Cys205Phe) c.590G>T (p.Cys197Phe) | dbSNP |
| 9 | g.136517880C>G | CA375563300 | NOTCH1 | c.1313G>C (p.Cys438Ser) c.*549G>C (n.*549G>C) c.614G>C (p.Cys205Ser) c.590G>C (p.Cys197Ser) | dbSNP |
| 9 | g.136517880C>T | CA375563298 | NOTCH1 | c.1313G>A (p.Cys438Tyr) c.*549G>A (n.*549G>A) c.614G>A (p.Cys205Tyr) c.590G>A (p.Cys197Tyr) | dbSNP |
| 9 | g.136517881A>C | CA375563303 | NOTCH1 | c.1312T>G (p.Cys438Gly) c.*548T>G (n.*548T>G) c.613T>G (p.Cys205Gly) c.589T>G (p.Cys197Gly) | dbSNP |
| 9 | g.136517881A>G | CA375563306 | NOTCH1 | c.1312T>C (p.Cys438Arg) c.*548T>C (n.*548T>C) c.613T>C (p.Cys205Arg) c.589T>C (p.Cys197Arg) | |
| 9 | g.136517881A>T | CA375563307 | NOTCH1 | c.1312T>A (p.Cys438Ser) c.*548T>A (n.*548T>A) c.613T>A (p.Cys205Ser) c.589T>A (p.Cys197Ser) | dbSNP |
| 9 | g.136517882C>A | CA375563308 | NOTCH1 | c.1311G>T (p.Glu437Asp) c.*547G>T (n.*547G>T) c.612G>T (p.Glu204Asp) c.588G>T (p.Glu196Asp) | |
| 9 | g.136517882C>G | CA375563309 | NOTCH1 | c.1311G>C (p.Glu437Asp) c.*547G>C (n.*547G>C) c.612G>C (p.Glu204Asp) c.588G>C (p.Glu196Asp) | dbSNP |
| 9 | g.136517882C>T | CA467718249 | NOTCH1 | c.1311G>A (p.Glu437=) c.*547G>A (n.*547G>A) c.612G>A (p.Glu204=) c.588G>A (p.Glu196=) | dbSNP gnomAD v4 |
| 9 | g.136517883T>A | CA375563317 | NOTCH1 | c.1310A>T (p.Glu437Val) c.*546A>T (n.*546A>T) c.611A>T (p.Glu204Val) c.587A>T (p.Glu196Val) | |
| 9 | g.136517883T>C | CA375563315 | NOTCH1 | c.1310A>G (p.Glu437Gly) c.*546A>G (n.*546A>G) c.611A>G (p.Glu204Gly) c.587A>G (p.Glu196Gly) | |
| 9 | g.136517883T>G | CA375563312 | NOTCH1 | c.1310A>C (p.Glu437Ala) c.*546A>C (n.*546A>C) c.611A>C (p.Glu204Ala) c.587A>C (p.Glu196Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.136517884C>A | CA375563320 | NOTCH1 | c.1309G>T (p.Glu437Ter) c.*545G>T (n.*545G>T) c.610G>T (p.Glu204Ter) c.586G>T (p.Glu196Ter) | dbSNP gnomAD v2 |
| 9 | g.136517884C>G | CA375563322 | NOTCH1 | c.1309G>C (p.Glu437Gln) c.*545G>C (n.*545G>C) c.610G>C (p.Glu204Gln) c.586G>C (p.Glu196Gln) | dbSNP |
| 9 | g.136517884C>T | CA16612689 | NOTCH1 | c.1309G>A (p.Glu437Lys) c.*545G>A (n.*545G>A) c.610G>A (p.Glu204Lys) c.586G>A (p.Glu196Lys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.136517885G>A | CA5341835 | NOTCH1 | c.1308C>T (p.Phe436=) c.*544C>T (n.*544C>T) c.609C>T (p.Phe203=) c.585C>T (p.Phe195=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.136517885G>C | CA375563327 | NOTCH1 | c.1308C>G (p.Phe436Leu) c.*544C>G (n.*544C>G) c.609C>G (p.Phe203Leu) c.585C>G (p.Phe195Leu) | |
| 9 | g.136517885G>T | CA375563330 | NOTCH1 | c.1308C>A (p.Phe436Leu) c.*544C>A (n.*544C>A) c.609C>A (p.Phe203Leu) c.585C>A (p.Phe195Leu) | gnomAD v4 |
| 9 | g.136517886A>C | CA375563338 | NOTCH1 | c.1307T>G (p.Phe436Cys) c.*543T>G (n.*543T>G) c.608T>G (p.Phe203Cys) c.584T>G (p.Phe195Cys) | COSMIC COSMIC |
| 9 | g.136517886A>G | CA375563334 | NOTCH1 | c.1307T>C (p.Phe436Ser) c.*543T>C (n.*543T>C) c.608T>C (p.Phe203Ser) c.584T>C (p.Phe195Ser) | dbSNP |
| 9 | g.136517886A>T | CA375563336 | NOTCH1 | c.1307T>A (p.Phe436Tyr) c.*543T>A (n.*543T>A) c.608T>A (p.Phe203Tyr) c.584T>A (p.Phe195Tyr) | dbSNP |
| 9 | g.136517887A>C | CA375563340 | NOTCH1 | c.1306T>G (p.Phe436Val) c.*542T>G (n.*542T>G) c.607T>G (p.Phe203Val) c.583T>G (p.Phe195Val) | |
| 9 | g.136517887A>G | CA375563342 | NOTCH1 | c.1306T>C (p.Phe436Leu) c.*542T>C (n.*542T>C) c.607T>C (p.Phe203Leu) c.583T>C (p.Phe195Leu) | dbSNP |
| 9 | g.136517887A>T | CA375563344 | NOTCH1 | c.1306T>A (p.Phe436Ile) c.*542T>A (n.*542T>A) c.607T>A (p.Phe203Ile) c.583T>A (p.Phe195Ile) | |
| 9 | g.136517888G>A | CA467718257 | NOTCH1 | c.1305C>T (p.Ser435=) c.*541C>T (n.*541C>T) c.606C>T (p.Ser202=) c.582C>T (p.Ser194=) | dbSNP |
| 9 | g.136517888G>C | CA467718258 | NOTCH1 | c.1305C>G (p.Ser435=) c.*541C>G (n.*541C>G) c.606C>G (p.Ser202=) c.582C>G (p.Ser194=) | |
| 9 | g.136517888G>T | CA467718259 | NOTCH1 | c.1305C>A (p.Ser435=) c.*541C>A (n.*541C>A) c.606C>A (p.Ser202=) c.582C>A (p.Ser194=) | dbSNP |
| 9 | g.136517889G>A | CA375563347 | NOTCH1 | c.1304C>T (p.Ser435Phe) c.*540C>T (n.*540C>T) c.605C>T (p.Ser202Phe) c.581C>T (p.Ser194Phe) | |
| 9 | g.136517889G>C | CA375563350 | NOTCH1 | c.1304C>G (p.Ser435Cys) c.*540C>G (n.*540C>G) c.605C>G (p.Ser202Cys) c.581C>G (p.Ser194Cys) | |
| 9 | g.136517889G>T | CA375563352 | NOTCH1 | c.1304C>A (p.Ser435Tyr) c.*540C>A (n.*540C>A) c.605C>A (p.Ser202Tyr) c.581C>A (p.Ser194Tyr) | |
| 9 | g.136517890A>C | CA375563356 | NOTCH1 | c.1303T>G (p.Ser435Ala) c.*539T>G (n.*539T>G) c.604T>G (p.Ser202Ala) c.580T>G (p.Ser194Ala) | dbSNP |
| 9 | g.136517890A>G | CA375563358 | NOTCH1 | c.1303T>C (p.Ser435Pro) c.*539T>C (n.*539T>C) c.604T>C (p.Ser202Pro) c.580T>C (p.Ser194Pro) | dbSNP |
| 9 | g.136517890A>T | CA375563360 | NOTCH1 | c.1303T>A (p.Ser435Thr) c.*539T>A (n.*539T>A) c.604T>A (p.Ser202Thr) c.580T>A (p.Ser194Thr) | dbSNP |
| 9 | g.136517891G>A | CA467718263 | NOTCH1 | c.1302C>T (p.Gly434=) c.*538C>T (n.*538C>T) c.603C>T (p.Gly201=) c.579C>T (p.Gly193=) | |
| 9 | g.136517891G>C | CA467718265 | NOTCH1 | c.1302C>G (p.Gly434=) c.*538C>G (n.*538C>G) c.603C>G (p.Gly201=) c.579C>G (p.Gly193=) | dbSNP |
| 9 | g.136517891G>T | CA467718264 | NOTCH1 | c.1302C>A (p.Gly434=) c.*538C>A (n.*538C>A) c.603C>A (p.Gly201=) c.579C>A (p.Gly193=) | gnomAD v4 |
| 9 | g.136517892C>A | CA375563364 | NOTCH1 | c.1301G>T (p.Gly434Val) c.*537G>T (n.*537G>T) c.602G>T (p.Gly201Val) c.578G>T (p.Gly193Val) | |
| 9 | g.136517892C>G | CA375563365 | NOTCH1 | c.1301G>C (p.Gly434Ala) c.*537G>C (n.*537G>C) c.602G>C (p.Gly201Ala) c.578G>C (p.Gly193Ala) | dbSNP |
| 9 | g.136517892C>T | CA375563369 | NOTCH1 | c.1301G>A (p.Gly434Asp) c.*537G>A (n.*537G>A) c.602G>A (p.Gly201Asp) c.578G>A (p.Gly193Asp) | COSMIC COSMIC |
| 9 | g.136517894del | CA645562536 | NOTCH1 | c.1301del (p.Gly434AlafsTer?) c.*537del (n.*537del) c.602del (p.Gly201AlafsTer?) c.578del (p.Gly193AlafsTer?) | COSMIC COSMIC |
| 9 | g.136517893C>A | CA375563372 | NOTCH1 | c.1300G>T (p.Gly434Cys) c.*536G>T (n.*536G>T) c.601G>T (p.Gly201Cys) c.577G>T (p.Gly193Cys) | dbSNP COSMIC COSMIC |
| 9 | g.136517893C>G | CA375563377 | NOTCH1 | c.1300G>C (p.Gly434Arg) c.*536G>C (n.*536G>C) c.601G>C (p.Gly201Arg) c.577G>C (p.Gly193Arg) | |
| 9 | g.136517893C>T | CA375563374 | NOTCH1 | c.1300G>A (p.Gly434Ser) c.*536G>A (n.*536G>A) c.601G>A (p.Gly201Ser) c.577G>A (p.Gly193Ser) | |
| 9 | g.136517894C>A | CA467718270 | NOTCH1 | c.1299G>T (p.Leu433=) c.*535G>T (n.*535G>T) c.600G>T (p.Leu200=) c.576G>T (p.Leu192=) | dbSNP |
| 9 | g.136517894C>G | CA467718269 | NOTCH1 | c.1299G>C (p.Leu433=) c.*535G>C (n.*535G>C) c.600G>C (p.Leu200=) c.576G>C (p.Leu192=) | dbSNP |
| 9 | g.136517894C>T | CA467718268 | NOTCH1 | c.1299G>A (p.Leu433=) c.*535G>A (n.*535G>A) c.600G>A (p.Leu200=) c.576G>A (p.Leu192=) | dbSNP gnomAD v4 |
| 9 | g.136517895A>C | CA375563379 | NOTCH1 | c.1298T>G (p.Leu433Arg) c.*534T>G (n.*534T>G) c.599T>G (p.Leu200Arg) c.575T>G (p.Leu192Arg) | |
| 9 | g.136517895A>G | CA375563382 | NOTCH1 | c.1298T>C (p.Leu433Pro) c.*534T>C (n.*534T>C) c.599T>C (p.Leu200Pro) c.575T>C (p.Leu192Pro) | dbSNP |
| 9 | g.136517895A>T | CA375563385 | NOTCH1 | c.1298T>A (p.Leu433Gln) c.*534T>A (n.*534T>A) c.599T>A (p.Leu200Gln) c.575T>A (p.Leu192Gln) | dbSNP |
| 9 | g.136517896G>A | CA5341836 | NOTCH1 | c.1297C>T (p.Leu433=) c.*533C>T (n.*533C>T) c.598C>T (p.Leu200=) c.574C>T (p.Leu192=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.136517896G>C | CA375563394 | NOTCH1 | c.1297C>G (p.Leu433Val) c.*533C>G (n.*533C>G) c.598C>G (p.Leu200Val) c.574C>G (p.Leu192Val) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.136517896G>T | CA375563397 | NOTCH1 | c.1297C>A (p.Leu433Met) c.*533C>A (n.*533C>A) c.598C>A (p.Leu200Met) c.574C>A (p.Leu192Met) | dbSNP |
| 9 | g.136517897C>A | CA5341837 | NOTCH1 | c.1296G>T (p.Thr432=) c.*532G>T (n.*532G>T) c.597G>T (p.Thr199=) c.573G>T (p.Thr191=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.136517897C>G | CA467718274 | NOTCH1 | c.1296G>C (p.Thr432=) c.*532G>C (n.*532G>C) c.597G>C (p.Thr199=) c.573G>C (p.Thr191=) | dbSNP |
| 9 | g.136517897C>T | CA467718273 | NOTCH1 | c.1296G>A (p.Thr432=) c.*532G>A (n.*532G>A) c.597G>A (p.Thr199=) c.573G>A (p.Thr191=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.136517897_136517898insACAC | CA2695211762 | NOTCH1 | c.1296_1297insTGTG (p.Leu433CysfsTer?) c.*532_*533insTGTG (n.*532_*533insTGTG) c.597_598insTGTG (p.Leu200CysfsTer?) c.573_574insTGTG (p.Leu192CysfsTer?) | |
| 9 | g.136517898G>A | CA5341838 | NOTCH1 | c.1295C>T (p.Thr432Met) c.*531C>T (n.*531C>T) c.596C>T (p.Thr199Met) c.572C>T (p.Thr191Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 9 | g.136517898G>C | CA375563403 | NOTCH1 | c.1295C>G (p.Thr432Arg) c.*531C>G (n.*531C>G) c.596C>G (p.Thr199Arg) c.572C>G (p.Thr191Arg) | ClinVar dbSNP gnomAD v4 |
| 9 | g.136517898G>T | CA375563405 | NOTCH1 | c.1295C>A (p.Thr432Lys) c.*531C>A (n.*531C>A) c.596C>A (p.Thr199Lys) c.572C>A (p.Thr191Lys) | |
| 9 | g.136517899T>A | CA375563408 | NOTCH1 | c.1294A>T (p.Thr432Ser) c.*530A>T (n.*530A>T) c.595A>T (p.Thr199Ser) c.571A>T (p.Thr191Ser) | dbSNP |
| 9 | g.136517899T>C | CA375563409 | NOTCH1 | c.1294A>G (p.Thr432Ala) c.*530A>G (n.*530A>G) c.595A>G (p.Thr199Ala) c.571A>G (p.Thr191Ala) | |
| 9 | g.136517899T>G | CA375563410 | NOTCH1 | c.1294A>C (p.Thr432Pro) c.*530A>C (n.*530A>C) c.595A>C (p.Thr199Pro) c.571A>C (p.Thr191Pro) | |
| 9 | g.136517899dup | CA2695211764 | NOTCH1 | c.1294dup (p.Thr432AsnfsTer?) c.*530dup (n.*530dup) c.595dup (p.Thr199AsnfsTer?) c.571dup (p.Thr191AsnfsTer?) | |
| 9 | g.136517901_136517903del | CA2695211763 | NOTCH1 | c.1292_1294del (p.Asn431del) c.*528_*530del (n.*528_*530del) c.593_595del (p.Asn198del) c.569_571del (p.Asn190del) | |
| 9 | g.136517900G>A | CA10582648 | NOTCH1 | c.1293C>T (p.Asn431=) c.*529C>T (n.*529C>T) c.594C>T (p.Asn198=) c.570C>T (p.Asn190=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.136517900G>C | CA375563413 | NOTCH1 | c.1293C>G (p.Asn431Lys) c.*529C>G (n.*529C>G) c.594C>G (p.Asn198Lys) c.570C>G (p.Asn190Lys) | dbSNP COSMIC COSMIC |
| 9 | g.136517900G>T | CA375563411 | NOTCH1 | c.1293C>A (p.Asn431Lys) c.*529C>A (n.*529C>A) c.594C>A (p.Asn198Lys) c.570C>A (p.Asn190Lys) | |
| 9 | g.136517901T>A | CA375563414 | NOTCH1 | c.1292A>T (p.Asn431Ile) c.*528A>T (n.*528A>T) c.593A>T (p.Asn198Ile) c.569A>T (p.Asn190Ile) | dbSNP |
| 9 | g.136517901T>C | CA375563415 | NOTCH1 | c.1292A>G (p.Asn431Ser) c.*528A>G (n.*528A>G) c.593A>G (p.Asn198Ser) c.569A>G (p.Asn190Ser) | dbSNP COSMIC COSMIC |
| 9 | g.136517901T>G | CA375563416 | NOTCH1 | c.1292A>C (p.Asn431Thr) c.*528A>C (n.*528A>C) c.593A>C (p.Asn198Thr) c.569A>C (p.Asn190Thr) | dbSNP |
| 9 | g.136517902T>A | CA375563420 | NOTCH1 | c.1291A>T (p.Asn431Tyr) c.*527A>T (n.*527A>T) c.592A>T (p.Asn198Tyr) c.568A>T (p.Asn190Tyr) | dbSNP |
| 9 | g.136517902T>C | CA375563422 | NOTCH1 | c.1291A>G (p.Asn431Asp) c.*527A>G (n.*527A>G) c.592A>G (p.Asn198Asp) c.568A>G (p.Asn190Asp) | dbSNP |
| 9 | g.136517902T>G | CA375563425 | NOTCH1 | c.1291A>C (p.Asn431His) c.*527A>C (n.*527A>C) c.592A>C (p.Asn198His) c.568A>C (p.Asn190His) | |
| 9 | g.136517903G>A | CA467718276 | NOTCH1 | c.1290C>T (p.Ile430=) c.*526C>T (n.*526C>T) c.591C>T (p.Ile197=) c.567C>T (p.Ile189=) | dbSNP gnomAD v4 |
| 9 | g.136517903G>C | CA375563428 | NOTCH1 | c.1290C>G (p.Ile430Met) c.*526C>G (n.*526C>G) c.591C>G (p.Ile197Met) c.567C>G (p.Ile189Met) | dbSNP |
| 9 | g.136517903G>T | CA467718279 | NOTCH1 | c.1290C>A (p.Ile430=) c.*526C>A (n.*526C>A) c.591C>A (p.Ile197=) c.567C>A (p.Ile189=) | |
| 9 | g.136517904A>C | CA375563431 | NOTCH1 | c.1289T>G (p.Ile430Ser) c.*525T>G (n.*525T>G) c.590T>G (p.Ile197Ser) c.566T>G (p.Ile189Ser) | dbSNP |
| 9 | g.136517904A>G | CA375563434 | NOTCH1 | c.1289T>C (p.Ile430Thr) c.*525T>C (n.*525T>C) c.590T>C (p.Ile197Thr) c.566T>C (p.Ile189Thr) | dbSNP COSMIC COSMIC |
| 9 | g.136517904A>T | CA375563437 | NOTCH1 | c.1289T>A (p.Ile430Asn) c.*525T>A (n.*525T>A) c.590T>A (p.Ile197Asn) c.566T>A (p.Ile189Asn) | dbSNP |
| 9 | g.136517905T>A | CA375563442 | NOTCH1 | c.1288A>T (p.Ile430Phe) c.*524A>T (n.*524A>T) c.589A>T (p.Ile197Phe) c.565A>T (p.Ile189Phe) | dbSNP |
| 9 | g.136517905T>C | CA375563441 | NOTCH1 | c.1288A>G (p.Ile430Val) c.*524A>G (n.*524A>G) c.589A>G (p.Ile197Val) c.565A>G (p.Ile189Val) | dbSNP gnomAD v4 |
| 9 | g.136517905T>G | CA375563440 | NOTCH1 | c.1288A>C (p.Ile430Leu) c.*524A>C (n.*524A>C) c.589A>C (p.Ile197Leu) c.565A>C (p.Ile189Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.136517906G>A | CA467718285 | NOTCH1 | c.1287C>T (p.Cys429=) c.*523C>T (n.*523C>T) c.588C>T (p.Cys196=) c.564C>T (p.Cys188=) | dbSNP |
| 9 | g.136517906G>C | CA375563443 | NOTCH1 | c.1287C>G (p.Cys429Trp) c.*523C>G (n.*523C>G) c.588C>G (p.Cys196Trp) c.564C>G (p.Cys188Trp) | dbSNP |
| 9 | g.136517906G>T | CA375563444 | NOTCH1 | c.1287C>A (p.Cys429Ter) c.*523C>A (n.*523C>A) c.588C>A (p.Cys196Ter) c.564C>A (p.Cys188Ter) | dbSNP |
| 9 | g.136517907C>A | CA375563446 | NOTCH1 | c.1286G>T (p.Cys429Phe) c.*522G>T (n.*522G>T) c.587G>T (p.Cys196Phe) c.563G>T (p.Cys188Phe) | COSMIC COSMIC |
| 9 | g.136517907C>G | CA375563448 | NOTCH1 | c.1286G>C (p.Cys429Ser) c.*522G>C (n.*522G>C) c.587G>C (p.Cys196Ser) c.563G>C (p.Cys188Ser) | dbSNP |
| 9 | g.136517907C>T | CA375563449 | NOTCH1 | c.1286G>A (p.Cys429Tyr) c.*522G>A (n.*522G>A) c.587G>A (p.Cys196Tyr) c.563G>A (p.Cys188Tyr) | dbSNP COSMIC COSMIC |
| 9 | g.136517908A>C | CA375563450 | NOTCH1 | c.1285T>G (p.Cys429Gly) c.*521T>G (n.*521T>G) c.586T>G (p.Cys196Gly) c.562T>G (p.Cys188Gly) | |
| 9 | g.136517908A>G | CA211323 | NOTCH1 | c.1285T>C (p.Cys429Arg) c.*521T>C (n.*521T>C) c.586T>C (p.Cys196Arg) c.562T>C (p.Cys188Arg) | ClinVar dbSNP |
| 9 | g.136517908A>T | CA375563451 | NOTCH1 | c.1285T>A (p.Cys429Ser) c.*521T>A (n.*521T>A) c.586T>A (p.Cys196Ser) c.562T>A (p.Cys188Ser) | dbSNP COSMIC COSMIC |
| 9 | g.136517909C>A | CA375563452 | NOTCH1 | c.1284G>T (p.Lys428Asn) c.*520G>T (n.*520G>T) c.585G>T (p.Lys195Asn) c.561G>T (p.Lys187Asn) | dbSNP |
| 9 | g.136517909C>G | CA375563453 | NOTCH1 | c.1284G>C (p.Lys428Asn) c.*520G>C (n.*520G>C) c.585G>C (p.Lys195Asn) c.561G>C (p.Lys187Asn) | dbSNP |
| 9 | g.136517909C>T | CA467718286 | NOTCH1 | c.1284G>A (p.Lys428=) c.*520G>A (n.*520G>A) c.585G>A (p.Lys195=) c.561G>A (p.Lys187=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.136517910T>A | CA375563454 | NOTCH1 | c.1283A>T (p.Lys428Met) c.*519A>T (n.*519A>T) c.584A>T (p.Lys195Met) c.560A>T (p.Lys187Met) | dbSNP |
| 9 | g.136517910T>C | CA375563456 | NOTCH1 | c.1283A>G (p.Lys428Arg) c.*519A>G (n.*519A>G) c.584A>G (p.Lys195Arg) c.560A>G (p.Lys187Arg) | dbSNP |
| 9 | g.136517910T>G | CA375563457 | NOTCH1 | c.1283A>C (p.Lys428Thr) c.*519A>C (n.*519A>C) c.584A>C (p.Lys195Thr) c.560A>C (p.Lys187Thr) | dbSNP |
| 9 | g.136517911T>A | CA375563470 | NOTCH1 | c.1282A>T (p.Lys428Ter) c.*518A>T (n.*518A>T) c.583A>T (p.Lys195Ter) c.559A>T (p.Lys187Ter) | dbSNP COSMIC COSMIC |
| 9 | g.136517911T>C | CA375563462 | NOTCH1 | c.1282A>G (p.Lys428Glu) c.*518A>G (n.*518A>G) c.583A>G (p.Lys195Glu) c.559A>G (p.Lys187Glu) | |
| 9 | g.136517911T>G | CA375563460 | NOTCH1 | c.1282A>C (p.Lys428Gln) c.*518A>C (n.*518A>C) c.583A>C (p.Lys195Gln) c.559A>C (p.Lys187Gln) | |
| 9 | g.136517912G>A | CA467718290 | NOTCH1 | c.1281C>T (p.Gly427=) c.*517C>T (n.*517C>T) c.582C>T (p.Gly194=) c.558C>T (p.Gly186=) | dbSNP gnomAD v4 |
| 9 | g.136517912G>C | CA467718291 | NOTCH1 | c.1281C>G (p.Gly427=) c.*517C>G (n.*517C>G) c.582C>G (p.Gly194=) c.558C>G (p.Gly186=) | dbSNP |
| 9 | g.136517912G>T | CA467718289 | NOTCH1 | c.1281C>A (p.Gly427=) c.*517C>A (n.*517C>A) c.582C>A (p.Gly194=) c.558C>A (p.Gly186=) | gnomAD v4 |
| 9 | g.136517913C>A | CA375563473 | NOTCH1 | c.1280G>T (p.Gly427Val) c.*516G>T (n.*516G>T) c.581G>T (p.Gly194Val) c.557G>T (p.Gly186Val) | dbSNP |
| 9 | g.136517913C>G | CA375563475 | NOTCH1 | c.1280G>C (p.Gly427Ala) c.*516G>C (n.*516G>C) c.581G>C (p.Gly194Ala) c.557G>C (p.Gly186Ala) | dbSNP |
| 9 | g.136517913C>T | CA375563477 | NOTCH1 | c.1280G>A (p.Gly427Asp) c.*516G>A (n.*516G>A) c.581G>A (p.Gly194Asp) c.557G>A (p.Gly186Asp) | dbSNP |
| 9 | g.136517914C>A | CA375563480 | NOTCH1 | c.1279G>T (p.Gly427Cys) c.*515G>T (n.*515G>T) c.580G>T (p.Gly194Cys) c.556G>T (p.Gly186Cys) | COSMIC COSMIC |
| 9 | g.136517914C>G | CA375563482 | NOTCH1 | c.1279G>C (p.Gly427Arg) c.*515G>C (n.*515G>C) c.580G>C (p.Gly194Arg) c.556G>C (p.Gly186Arg) | dbSNP |
| 9 | g.136517914C>T | CA375563485 | NOTCH1 | c.1279G>A (p.Gly427Ser) c.*515G>A (n.*515G>A) c.580G>A (p.Gly194Ser) c.556G>A (p.Gly186Ser) | dbSNP |
| 9 | g.136517915C>A | CA467718292 | NOTCH1 | c.1278G>T (p.Ala426=) c.*514G>T (n.*514G>T) c.579G>T (p.Ala193=) c.555G>T (p.Ala185=) | dbSNP |
| 9 | g.136517915C>G | CA467718293 | NOTCH1 | c.1278G>C (p.Ala426=) c.*514G>C (n.*514G>C) c.579G>C (p.Ala193=) c.555G>C (p.Ala185=) | dbSNP gnomAD v4 |
| 9 | g.136517915C>T | CA5341839 | NOTCH1 | c.1278G>A (p.Ala426=) c.*514G>A (n.*514G>A) c.579G>A (p.Ala193=) c.555G>A (p.Ala185=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.136517916G>A | CA5341840 | NOTCH1 | c.1277C>T (p.Ala426Val) c.*513C>T (n.*513C>T) c.578C>T (p.Ala193Val) c.554C>T (p.Ala185Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.136517916G>C | CA16612753 | NOTCH1 | c.1277C>G (p.Ala426Gly) c.*513C>G (n.*513C>G) c.578C>G (p.Ala193Gly) c.554C>G (p.Ala185Gly) | ClinVar dbSNP COSMIC COSMIC |
| 9 | g.136517916G>T | CA375563494 | NOTCH1 | c.1277C>A (p.Ala426Glu) c.*513C>A (n.*513C>A) c.578C>A (p.Ala193Glu) c.554C>A (p.Ala185Glu) | dbSNP |
| 9 | g.136517917C>A | CA375563505 | NOTCH1 | c.1276G>T (p.Ala426Ser) c.*512G>T (n.*512G>T) c.577G>T (p.Ala193Ser) c.553G>T (p.Ala185Ser) | dbSNP |
| 9 | g.136517917C>G | CA375563507 | NOTCH1 | c.1276G>C (p.Ala426Pro) c.*512G>C (n.*512G>C) c.577G>C (p.Ala193Pro) c.553G>C (p.Ala185Pro) | dbSNP |
| 9 | g.136517917C>T | CA375563508 | NOTCH1 | c.1276G>A (p.Ala426Thr) c.*512G>A (n.*512G>A) c.577G>A (p.Ala193Thr) c.553G>A (p.Ala185Thr) | dbSNP |
| 9 | g.136517918A>C | CA375563514 | NOTCH1 | c.1275T>G (p.His425Gln) c.*511T>G (n.*511T>G) c.576T>G (p.His192Gln) c.552T>G (p.His184Gln) | dbSNP |
| 9 | g.136517918A>G | CA467718295 | NOTCH1 | c.1275T>C (p.His425=) c.*511T>C (n.*511T>C) c.576T>C (p.His192=) c.552T>C (p.His184=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.136517918A>T | CA375563510 | NOTCH1 | c.1275T>A (p.His425Gln) c.*511T>A (n.*511T>A) c.576T>A (p.His192Gln) c.552T>A (p.His184Gln) | dbSNP |
| 9 | g.136517919T>A | CA375563516 | NOTCH1 | c.1274A>T (p.His425Leu) c.*510A>T (n.*510A>T) c.575A>T (p.His192Leu) c.551A>T (p.His184Leu) | dbSNP |
| 9 | g.136517919T>C | CA375563517 | NOTCH1 | c.1274A>G (p.His425Arg) c.*510A>G (n.*510A>G) c.575A>G (p.His192Arg) c.551A>G (p.His184Arg) | dbSNP |
| 9 | g.136517919T>G | CA375563518 | NOTCH1 | c.1274A>C (p.His425Pro) c.*510A>C (n.*510A>C) c.575A>C (p.His192Pro) c.551A>C (p.His184Pro) | dbSNP |
| 9 | g.136517920G>A | CA375563530 | NOTCH1 | c.1273C>T (p.His425Tyr) c.*509C>T (n.*509C>T) c.574C>T (p.His192Tyr) c.550C>T (p.His184Tyr) | dbSNP |
| 9 | g.136517920G>C | CA375563531 | NOTCH1 | c.1273C>G (p.His425Asp) c.*509C>G (n.*509C>G) c.574C>G (p.His192Asp) c.550C>G (p.His184Asp) | dbSNP |
| 9 | g.136517920G>T | CA375563535 | NOTCH1 | c.1273C>A (p.His425Asn) c.*509C>A (n.*509C>A) c.574C>A (p.His192Asn) c.550C>A (p.His184Asn) | |
| 9 | g.136517921C>A | CA375563537 | NOTCH1 | c.1272G>T (p.Glu424Asp) c.*508G>T (n.*508G>T) c.573G>T (p.Glu191Asp) c.549G>T (p.Glu183Asp) | dbSNP |
| 9 | g.136517921C>G | CA375563540 | NOTCH1 | c.1272G>C (p.Glu424Asp) c.*508G>C (n.*508G>C) c.573G>C (p.Glu191Asp) c.549G>C (p.Glu183Asp) | dbSNP |
| 9 | g.136517921C>T | CA5341841 | NOTCH1 | c.1272G>A (p.Glu424=) c.*508G>A (n.*508G>A) c.573G>A (p.Glu191=) c.549G>A (p.Glu183=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.136517922T>A | CA375563548 | NOTCH1 | c.1271A>T (p.Glu424Val) c.*507A>T (n.*507A>T) c.572A>T (p.Glu191Val) c.548A>T (p.Glu183Val) | dbSNP |
| 9 | g.136517922T>C | CA375563552 | NOTCH1 | c.1271A>G (p.Glu424Gly) c.*507A>G (n.*507A>G) c.572A>G (p.Glu191Gly) c.548A>G (p.Glu183Gly) | dbSNP |
| 9 | g.136517922T>G | CA375563555 | NOTCH1 | c.1271A>C (p.Glu424Ala) c.*507A>C (n.*507A>C) c.572A>C (p.Glu191Ala) c.548A>C (p.Glu183Ala) | |
| 9 | g.136517923C>A | CA375563560 | NOTCH1 | c.1270G>T (p.Glu424Ter) c.*506G>T (n.*506G>T) c.571G>T (p.Glu191Ter) c.547G>T (p.Glu183Ter) | dbSNP |
| 9 | g.136517923C>G | CA375563564 | NOTCH1 | c.1270G>C (p.Glu424Gln) c.*506G>C (n.*506G>C) c.571G>C (p.Glu191Gln) c.547G>C (p.Glu183Gln) | dbSNP COSMIC COSMIC |
| 9 | g.136517923C>T | CA375563557 | NOTCH1 | c.1270G>A (p.Glu424Lys) c.*506G>A (n.*506G>A) c.571G>A (p.Glu191Lys) c.547G>A (p.Glu183Lys) | dbSNP COSMIC COSMIC |
| 9 | g.136517924G>A | CA5341842 | NOTCH1 | c.1269C>T (p.Cys423=) c.*505C>T (n.*505C>T) c.570C>T (p.Cys190=) c.546C>T (p.Cys182=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.136517924G>C | CA375563575 | NOTCH1 | c.1269C>G (p.Cys423Trp) c.*505C>G (n.*505C>G) c.570C>G (p.Cys190Trp) c.546C>G (p.Cys182Trp) | dbSNP |
| 9 | g.136517924G>T | CA375563576 | NOTCH1 | c.1269C>A (p.Cys423Ter) c.*505C>A (n.*505C>A) c.570C>A (p.Cys190Ter) c.546C>A (p.Cys182Ter) | dbSNP |
| 9 | g.136517925C>A | CA375563580 | NOTCH1 | c.1268G>T (p.Cys423Phe) c.*504G>T (n.*504G>T) c.569G>T (p.Cys190Phe) c.545G>T (p.Cys182Phe) | |
| 9 | g.136517925C>G | CA375563582 | NOTCH1 | c.1268G>C (p.Cys423Ser) c.*504G>C (n.*504G>C) c.569G>C (p.Cys190Ser) c.545G>C (p.Cys182Ser) | dbSNP |
| 9 | g.136517925C>T | CA375563584 | NOTCH1 | c.1268G>A (p.Cys423Tyr) c.*504G>A (n.*504G>A) c.569G>A (p.Cys190Tyr) c.545G>A (p.Cys182Tyr) | dbSNP COSMIC COSMIC |
| 9 | g.136517926A>C | CA375563587 | NOTCH1 | c.1267T>G (p.Cys423Gly) c.*503T>G (n.*503T>G) c.568T>G (p.Cys190Gly) c.544T>G (p.Cys182Gly) | |
| 9 | g.136517926A>G | CA375563589 | NOTCH1 | c.1267T>C (p.Cys423Arg) c.*503T>C (n.*503T>C) c.568T>C (p.Cys190Arg) c.544T>C (p.Cys182Arg) | dbSNP |
| 9 | g.136517926A>T | CA375563588 | NOTCH1 | c.1267T>A (p.Cys423Ser) c.*503T>A (n.*503T>A) c.568T>A (p.Cys190Ser) c.544T>A (p.Cys182Ser) | ClinVar dbSNP |
| 9 | g.136517927G>A | CA467718301 | NOTCH1 | c.1266C>T (p.Pro422=) c.*502C>T (n.*502C>T) c.567C>T (p.Pro189=) c.543C>T (p.Pro181=) | dbSNP |
| 9 | g.136517927G>C | CA5341843 | NOTCH1 | c.1266C>G (p.Pro422=) c.*502C>G (n.*502C>G) c.567C>G (p.Pro189=) c.543C>G (p.Pro181=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.136517927G>T | CA467718302 | NOTCH1 | c.1266C>A (p.Pro422=) c.*502C>A (n.*502C>A) c.567C>A (p.Pro189=) c.543C>A (p.Pro181=) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
| 9 | g.136517928G>A | CA375563591 | NOTCH1 | c.1265C>T (p.Pro422Leu) c.*501C>T (n.*501C>T) c.566C>T (p.Pro189Leu) c.542C>T (p.Pro181Leu) | dbSNP |
| 9 | g.136517928G>C | CA375563596 | NOTCH1 | c.1265C>G (p.Pro422Arg) c.*501C>G (n.*501C>G) c.566C>G (p.Pro189Arg) c.542C>G (p.Pro181Arg) | dbSNP |
| 9 | g.136517928G>T | CA375563598 | NOTCH1 | c.1265C>A (p.Pro422His) c.*501C>A (n.*501C>A) c.566C>A (p.Pro189His) c.542C>A (p.Pro181His) | |
| 9 | g.136517929G>A | CA375563606 | NOTCH1 | c.1264C>T (p.Pro422Ser) c.*500C>T (n.*500C>T) c.565C>T (p.Pro189Ser) c.541C>T (p.Pro181Ser) | dbSNP COSMIC COSMIC |
| 9 | g.136517929G>C | CA375563603 | NOTCH1 | c.1264C>G (p.Pro422Ala) c.*500C>G (n.*500C>G) c.565C>G (p.Pro189Ala) c.541C>G (p.Pro181Ala) | |
| 9 | g.136517929G>T | CA375563601 | NOTCH1 | c.1264C>A (p.Pro422Thr) c.*500C>A (n.*500C>A) c.565C>A (p.Pro189Thr) c.541C>A (p.Pro181Thr) | |
| 9 | g.136517930G>A | CA467718305 | NOTCH1 | c.1263C>T (p.Asn421=) c.*499C>T (n.*499C>T) c.564C>T (p.Asn188=) c.540C>T (p.Asn180=) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.136517930G>C | CA375563609 | NOTCH1 | c.1263C>G (p.Asn421Lys) c.*499C>G (n.*499C>G) c.564C>G (p.Asn188Lys) c.540C>G (p.Asn180Lys) | dbSNP |
| 9 | g.136517930G>T | CA375563614 | NOTCH1 | c.1263C>A (p.Asn421Lys) c.*499C>A (n.*499C>A) c.564C>A (p.Asn188Lys) c.540C>A (p.Asn180Lys) | dbSNP |
| 9 | g.136517931T>A | CA375563618 | NOTCH1 | c.1262A>T (p.Asn421Ile) c.*498A>T (n.*498A>T) c.563A>T (p.Asn188Ile) c.539A>T (p.Asn180Ile) | dbSNP gnomAD v4 |
| 9 | g.136517931T>C | CA201587577 | NOTCH1 | c.1262A>G (p.Asn421Ser) c.*498A>G (n.*498A>G) c.563A>G (p.Asn188Ser) c.539A>G (p.Asn180Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.136517931T>G | CA375563635 | NOTCH1 | c.1262A>C (p.Asn421Thr) c.*498A>C (n.*498A>C) c.563A>C (p.Asn188Thr) c.539A>C (p.Asn180Thr) | dbSNP |
| 9 | g.136517932T>A | CA375563637 | NOTCH1 | c.1261A>T (p.Asn421Tyr) c.*497A>T (n.*497A>T) c.562A>T (p.Asn188Tyr) c.538A>T (p.Asn180Tyr) | |
| 9 | g.136517932T>C | CA375563639 | NOTCH1 | c.1261A>G (p.Asn421Asp) c.*497A>G (n.*497A>G) c.562A>G (p.Asn188Asp) c.538A>G (p.Asn180Asp) | |
| 9 | g.136517932T>G | CA375563638 | NOTCH1 | c.1261A>C (p.Asn421His) c.*497A>C (n.*497A>C) c.562A>C (p.Asn188His) c.538A>C (p.Asn180His) | gnomAD v4 |
| 9 | g.136517933G>A | CA467718307 | NOTCH1 | c.1260C>T (p.Ala420=) c.*496C>T (n.*496C>T) c.561C>T (p.Ala187=) c.537C>T (p.Ala179=) | dbSNP |
| 9 | g.136517933G>C | CA467718309 | NOTCH1 | c.1260C>G (p.Ala420=) c.*496C>G (n.*496C>G) c.561C>G (p.Ala187=) c.537C>G (p.Ala179=) | |
| 9 | g.136517933G>T | CA467718308 | NOTCH1 | c.1260C>A (p.Ala420=) c.*496C>A (n.*496C>A) c.561C>A (p.Ala187=) c.537C>A (p.Ala179=) | dbSNP gnomAD v4 |
| 9 | g.136517934G>A | CA375563642 | NOTCH1 | c.1259C>T (p.Ala420Val) c.*495C>T (n.*495C>T) c.560C>T (p.Ala187Val) c.536C>T (p.Ala179Val) | dbSNP gnomAD v4 |
| 9 | g.136517934G>C | CA375563645 | NOTCH1 | c.1259C>G (p.Ala420Gly) c.*495C>G (n.*495C>G) c.560C>G (p.Ala187Gly) c.536C>G (p.Ala179Gly) | dbSNP |
| 9 | g.136517934G>T | CA375563643 | NOTCH1 | c.1259C>A (p.Ala420Asp) c.*495C>A (n.*495C>A) c.560C>A (p.Ala187Asp) c.536C>A (p.Ala179Asp) | |
| 9 | g.136517935C>A | CA375563649 | NOTCH1 | c.1258G>T (p.Ala420Ser) c.*494G>T (n.*494G>T) c.559G>T (p.Ala187Ser) c.535G>T (p.Ala179Ser) | gnomAD v4 |
| 9 | g.136517935C>G | CA375563650 | NOTCH1 | c.1258G>C (p.Ala420Pro) c.*494G>C (n.*494G>C) c.559G>C (p.Ala187Pro) c.535G>C (p.Ala179Pro) | dbSNP |
| 9 | g.136517935C>T | CA375563651 | NOTCH1 | c.1258G>A (p.Ala420Thr) c.*494G>A (n.*494G>A) c.559G>A (p.Ala187Thr) c.535G>A (p.Ala179Thr) | gnomAD v4 |
| 9 | g.136517936A>C | CA5341844 | NOTCH1 | c.1257T>G (p.Gly419=) c.*493T>G (n.*493T>G) c.558T>G (p.Gly186=) c.534T>G (p.Gly178=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.136517936A>G | CA467718311 | NOTCH1 | c.1257T>C (p.Gly419=) c.*493T>C (n.*493T>C) c.558T>C (p.Gly186=) c.534T>C (p.Gly178=) | gnomAD v4 |
| 9 | g.136517936A>T | CA467718312 | NOTCH1 | c.1257T>A (p.Gly419=) c.*493T>A (n.*493T>A) c.558T>A (p.Gly186=) c.534T>A (p.Gly178=) | |
| 9 | g.136517937C>A | CA375563657 | NOTCH1 | c.1256G>T (p.Gly419Val) c.*492G>T (n.*492G>T) c.557G>T (p.Gly186Val) c.533G>T (p.Gly178Val) | |
| 9 | g.136517937C>G | CA375563662 | NOTCH1 | c.1256G>C (p.Gly419Ala) c.*492G>C (n.*492G>C) c.557G>C (p.Gly186Ala) c.533G>C (p.Gly178Ala) | dbSNP |
| 9 | g.136517937C>T | CA375563664 | NOTCH1 | c.1256G>A (p.Gly419Asp) c.*492G>A (n.*492G>A) c.557G>A (p.Gly186Asp) c.533G>A (p.Gly178Asp) | |
| 9 | g.136517938C>A | CA375563666 | NOTCH1 | c.1256-1G>T (n.1256-1G>T) c.*492-1G>T (n.*492-1G>T) c.557-1G>T (n.557-1G>T) c.533-1G>T (n.533-1G>T) | |
| 9 | g.136517938C>G | CA375563669 | NOTCH1 | c.1256-1G>C (n.1256-1G>C) c.*492-1G>C (n.*492-1G>C) c.557-1G>C (n.557-1G>C) c.533-1G>C (n.533-1G>C) | dbSNP gnomAD v4 |
| 9 | g.136517938C>T | CA375563671 | NOTCH1 | c.1256-1G>A (n.1256-1G>A) c.*492-1G>A (n.*492-1G>A) c.557-1G>A (n.557-1G>A) c.533-1G>A (n.533-1G>A) | dbSNP |
| 9 | g.136517939T>A | CA375563679 | NOTCH1 | c.1256-2A>T (n.1256-2A>T) c.*492-2A>T (n.*492-2A>T) c.557-2A>T (n.557-2A>T) c.533-2A>T (n.533-2A>T) | dbSNP |
| 9 | g.136517939T>C | CA375563677 | NOTCH1 | c.1256-2A>G (n.1256-2A>G) c.*492-2A>G (n.*492-2A>G) c.557-2A>G (n.557-2A>G) c.533-2A>G (n.533-2A>G) | dbSNP |
| 9 | g.136517939T>G | CA375563674 | NOTCH1 | c.1256-2A>C (n.1256-2A>C) c.*492-2A>C (n.*492-2A>C) c.557-2A>C (n.557-2A>C) c.533-2A>C (n.533-2A>C) | |
| 9 | g.136517940G>A | CA2721108415 | NOTCH1 | c.1256-3C>T (n.1256-3C>T) c.*492-3C>T (n.*492-3C>T) c.557-3C>T (n.557-3C>T) c.533-3C>T (n.533-3C>T) | dbSNP |
| 9 | g.136517940G>C | CA2721108412 | NOTCH1 | c.1256-3C>G (n.1256-3C>G) c.*492-3C>G (n.*492-3C>G) c.557-3C>G (n.557-3C>G) c.533-3C>G (n.533-3C>G) | dbSNP |
| 9 | g.136517940G>T | CA2692643037 | NOTCH1 | c.1256-3C>A (n.1256-3C>A) c.*492-3C>A (n.*492-3C>A) c.557-3C>A (n.557-3C>A) c.533-3C>A (n.533-3C>A) | gnomAD v4 |
| 9 | g.136517941del | CA2721108417 | NOTCH1 | c.1256-3del (n.1256-3del) c.*492-3del (n.*492-3del) c.557-3del (n.557-3del) c.533-3del (n.533-3del) | dbSNP |
| 9 | g.136517941G>A | CA2721108418 | NOTCH1 | c.1256-4C>T (n.1256-4C>T) c.*492-4C>T (n.*492-4C>T) c.557-4C>T (n.557-4C>T) c.533-4C>T (n.533-4C>T) | dbSNP |
| 9 | g.136517941G>C | CA2721108419 | NOTCH1 | c.1256-4C>G (n.1256-4C>G) c.*492-4C>G (n.*492-4C>G) c.557-4C>G (n.557-4C>G) c.533-4C>G (n.533-4C>G) | dbSNP |
| 9 | g.136517941G>T | CA2692643038 | NOTCH1 | c.1256-4C>A (n.1256-4C>A) c.*492-4C>A (n.*492-4C>A) c.557-4C>A (n.557-4C>A) c.533-4C>A (n.533-4C>A) | gnomAD v4 |
| 9 | g.136517942C>A | CA2692643040 | NOTCH1 | c.1256-5G>T (n.1256-5G>T) c.*492-5G>T (n.*492-5G>T) c.557-5G>T (n.557-5G>T) c.533-5G>T (n.533-5G>T) | dbSNP gnomAD v4 |
| 9 | g.136517942C>G | CA2720767653 | NOTCH1 | c.1256-5G>C (n.1256-5G>C) c.*492-5G>C (n.*492-5G>C) c.557-5G>C (n.557-5G>C) c.533-5G>C (n.533-5G>C) | dbSNP |
| 9 | g.136517942C>T | CA5341845 | NOTCH1 | c.1256-5G>A (n.1256-5G>A) c.*492-5G>A (n.*492-5G>A) c.557-5G>A (n.557-5G>A) c.533-5G>A (n.533-5G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.136517943G>A | CA5341846 | NOTCH1 | c.1256-6C>T (n.1256-6C>T) c.*492-6C>T (n.*492-6C>T) c.557-6C>T (n.557-6C>T) c.533-6C>T (n.533-6C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 9 | g.136517943G>T | CA2692643046 | NOTCH1 | c.1256-6C>A (n.1256-6C>A) c.*492-6C>A (n.*492-6C>A) c.557-6C>A (n.557-6C>A) c.533-6C>A (n.533-6C>A) | dbSNP gnomAD v4 |
| 9 | g.136517944A>C | CA2721108420 | NOTCH1 | c.1256-7T>G (n.1256-7T>G) c.*492-7T>G (n.*492-7T>G) c.557-7T>G (n.557-7T>G) c.533-7T>G (n.533-7T>G) | dbSNP |
| 9 | g.136517944A>G | CA2721108421 | NOTCH1 | c.1256-7T>C (n.1256-7T>C) c.*492-7T>C (n.*492-7T>C) c.557-7T>C (n.557-7T>C) c.533-7T>C (n.533-7T>C) | dbSNP |
| 9 | g.136517944A>T | CA2721108422 | NOTCH1 | c.1256-7T>A (n.1256-7T>A) c.*492-7T>A (n.*492-7T>A) c.557-7T>A (n.557-7T>A) c.533-7T>A (n.533-7T>A) | dbSNP |
| 9 | g.136517945G>A | CA2692643048 | NOTCH1 | c.1256-8C>T (n.1256-8C>T) c.*492-8C>T (n.*492-8C>T) c.557-8C>T (n.557-8C>T) c.533-8C>T (n.533-8C>T) | gnomAD v4 |
| 9 | g.136517945G>C | CA201587578 | NOTCH1 | c.1256-8C>G (n.1256-8C>G) c.*492-8C>G (n.*492-8C>G) c.557-8C>G (n.557-8C>G) c.533-8C>G (n.533-8C>G) | ClinVar dbSNP gnomAD v4 |
| 9 | g.136517945G>T | CA2692643050 | NOTCH1 | c.1256-8C>A (n.1256-8C>A) c.*492-8C>A (n.*492-8C>A) c.557-8C>A (n.557-8C>A) c.533-8C>A (n.533-8C>A) | gnomAD v4 |
| 9 | g.136517947del | CA2692643047 | NOTCH1 | c.1256-8del (n.1256-8del) c.*492-8del (n.*492-8del) c.557-8del (n.557-8del) c.533-8del (n.533-8del) | gnomAD v4 |
| 9 | g.136517946G>A | CA591367480 | NOTCH1 | c.1256-9C>T (n.1256-9C>T) c.*492-9C>T (n.*492-9C>T) c.557-9C>T (n.557-9C>T) c.533-9C>T (n.533-9C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 9 | g.136517946G>C | CA915945817 | NOTCH1 | c.1256-9C>G (n.1256-9C>G) c.*492-9C>G (n.*492-9C>G) c.557-9C>G (n.557-9C>G) c.533-9C>G (n.533-9C>G) | ClinVar dbSNP |
| 9 | g.136517946G>T | CA2692643063 | NOTCH1 | c.1256-9C>A (n.1256-9C>A) c.*492-9C>A (n.*492-9C>A) c.557-9C>A (n.557-9C>A) c.533-9C>A (n.533-9C>A) | dbSNP gnomAD v4 |
| 9 | g.136517947G>A | CA2579519211 | NOTCH1 | c.1256-10C>T (n.1256-10C>T) c.*492-10C>T (n.*492-10C>T) c.557-10C>T (n.557-10C>T) c.533-10C>T (n.533-10C>T) | ClinVar gnomAD v4 |
| 9 | g.136517948C>A | CA2692643067 | NOTCH1 | c.1256-11G>T (n.1256-11G>T) c.*492-11G>T (n.*492-11G>T) c.557-11G>T (n.557-11G>T) c.533-11G>T (n.533-11G>T) | dbSNP gnomAD v4 |
| 9 | g.136517948C>G | CA2721108423 | NOTCH1 | c.1256-11G>C (n.1256-11G>C) c.*492-11G>C (n.*492-11G>C) c.557-11G>C (n.557-11G>C) c.533-11G>C (n.533-11G>C) | dbSNP |
| 9 | g.136517948C>T | CA2692643065 | NOTCH1 | c.1256-11G>A (n.1256-11G>A) c.*492-11G>A (n.*492-11G>A) c.557-11G>A (n.557-11G>A) c.533-11G>A (n.533-11G>A) | dbSNP gnomAD v4 |
| 9 | g.136517949A>C | CA2721108425 | NOTCH1 | c.1256-12T>G (n.1256-12T>G) c.*492-12T>G (n.*492-12T>G) c.557-12T>G (n.557-12T>G) c.533-12T>G (n.533-12T>G) | dbSNP |
| 9 | g.136517949A>G | CA2579519212 | NOTCH1 | c.1256-12T>C (n.1256-12T>C) c.*492-12T>C (n.*492-12T>C) c.557-12T>C (n.557-12T>C) c.533-12T>C (n.533-12T>C) | dbSNP |
| 9 | g.136517949A>T | CA2721108426 | NOTCH1 | c.1256-12T>A (n.1256-12T>A) c.*492-12T>A (n.*492-12T>A) c.557-12T>A (n.557-12T>A) c.533-12T>A (n.533-12T>A) | dbSNP |
| 9 | g.136517950C>A | CA2579519213 | NOTCH1 | c.1256-13G>T (n.1256-13G>T) c.*492-13G>T (n.*492-13G>T) c.557-13G>T (n.557-13G>T) c.533-13G>T (n.533-13G>T) | ClinVar gnomAD v4 |
| 9 | g.136517950C>G | CA2721108427 | NOTCH1 | c.1256-13G>C (n.1256-13G>C) c.*492-13G>C (n.*492-13G>C) c.557-13G>C (n.557-13G>C) c.533-13G>C (n.533-13G>C) | dbSNP |
| 9 | g.136517950C>T | CA2692643073 | NOTCH1 | c.1256-13G>A (n.1256-13G>A) c.*492-13G>A (n.*492-13G>A) c.557-13G>A (n.557-13G>A) c.533-13G>A (n.533-13G>A) | dbSNP gnomAD v4 |