OUTAGE/INTERRUPTION NOTICE:2024-06-14T21:00:00-0400 — 2024-06-17T08:00:00-0400
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.130872153T>A | CA375249191 | ABL1 | c.904T>A (p.Phe302Ile) c.847T>A (p.Phe283Ile) | |
| 9 | g.130872153T>C | CA375249192 | ABL1 | c.904T>C (p.Phe302Leu) c.847T>C (p.Phe283Leu) | |
| 9 | g.130872153T>G | CA16602553 | ABL1 | c.904T>G (p.Phe302Val) c.847T>G (p.Phe283Val) | ClinVar dbSNP |
| 9 | g.130872153T= | CA1881474741 | ABL1 | c.904T= (p.Phe302=) c.847T= (p.Phe283=) | |
| 9 | g.130872154T>A | CA375249193 | ABL1 | c.905T>A (p.Phe302Tyr) c.848T>A (p.Phe283Tyr) | |
| 9 | g.130872154T>C | CA375249194 | ABL1 | c.905T>C (p.Phe302Ser) c.848T>C (p.Phe283Ser) | |
| 9 | g.130872154T>G | CA375249195 | ABL1 | c.905T>G (p.Phe302Cys) c.848T>G (p.Phe283Cys) | |
| 9 | g.130872155C>A | CA375249196 | ABL1 | c.906C>A (p.Phe302Leu) c.849C>A (p.Phe283Leu) | |
| 9 | g.130872155C>G | CA375249197 | ABL1 | c.906C>G (p.Phe302Leu) c.849C>G (p.Phe283Leu) | |
| 9 | g.130872155C>T | CA467394968 | ABL1 | c.906C>T (p.Phe302=) c.849C>T (p.Phe283=) | |
| 9 | g.130872156T>A | CA375249199 | ABL1 | c.907T>A (p.Leu303Met) c.850T>A (p.Leu284Met) | |
| 9 | g.130872156T>C | CA467394969 | ABL1 | c.907T>C (p.Leu303=) c.850T>C (p.Leu284=) | |
| 9 | g.130872156T>G | CA375249198 | ABL1 | c.907T>G (p.Leu303Val) c.850T>G (p.Leu284Val) | |
| 9 | g.130872157T>A | CA375249200 | ABL1 | c.908T>A (p.Leu303Ter) c.851T>A (p.Leu284Ter) | |
| 9 | g.130872157T>C | CA375249201 | ABL1 | c.908T>C (p.Leu303Ser) c.851T>C (p.Leu284Ser) | |
| 9 | g.130872157T>G | CA375249202 | ABL1 | c.908T>G (p.Leu303Trp) c.851T>G (p.Leu284Trp) | |
| 9 | g.130872158G>A | CA467394970 | ABL1 | c.909G>A (p.Leu303=) c.852G>A (p.Leu284=) | dbSNP |
| 9 | g.130872158G>C | CA375249203 | ABL1 | c.909G>C (p.Leu303Phe) c.852G>C (p.Leu284Phe) | |
| 9 | g.130872158G>T | CA375249204 | ABL1 | c.909G>T (p.Leu303Phe) c.852G>T (p.Leu284Phe) | |
| 9 | g.130872159A>C | CA375249205 | ABL1 | c.910A>C (p.Lys304Gln) c.853A>C (p.Lys285Gln) | |
| 9 | g.130872159A>G | CA375249206 | ABL1 | c.910A>G (p.Lys304Glu) c.853A>G (p.Lys285Glu) | |
| 9 | g.130872159A>T | CA375249207 | ABL1 | c.910A>T (p.Lys304Ter) c.853A>T (p.Lys285Ter) | |
| 9 | g.130872160A>C | CA375249208 | ABL1 | c.911A>C (p.Lys304Thr) c.854A>C (p.Lys285Thr) | |
| 9 | g.130872160A>G | CA375249209 | ABL1 | c.911A>G (p.Lys304Arg) c.854A>G (p.Lys285Arg) | |
| 9 | g.130872160A>T | CA375249210 | ABL1 | c.911A>T (p.Lys304Ile) c.854A>T (p.Lys285Ile) | |
| 9 | g.130872161A>C | CA375249212 | ABL1 | c.912A>C (p.Lys304Asn) c.855A>C (p.Lys285Asn) | |
| 9 | g.130872161A>G | CA467394972 | ABL1 | c.912A>G (p.Lys304=) c.855A>G (p.Lys285=) | |
| 9 | g.130872161A>T | CA375249211 | ABL1 | c.912A>T (p.Lys304Asn) c.855A>T (p.Lys285Asn) | |
| 9 | g.130872162G>A | CA375249213 | ABL1 | c.913G>A (p.Glu305Lys) c.856G>A (p.Glu286Lys) | |
| 9 | g.130872162G>C | CA375249214 | ABL1 | c.913G>C (p.Glu305Gln) c.856G>C (p.Glu286Gln) | |
| 9 | g.130872162G>T | CA375249215 | ABL1 | c.913G>T (p.Glu305Ter) c.856G>T (p.Glu286Ter) | |
| 9 | g.130872163A>C | CA375249216 | ABL1 | c.914A>C (p.Glu305Ala) c.857A>C (p.Glu286Ala) | |
| 9 | g.130872163A>G | CA375249217 | ABL1 | c.914A>G (p.Glu305Gly) c.857A>G (p.Glu286Gly) | |
| 9 | g.130872163A>T | CA375249218 | ABL1 | c.914A>T (p.Glu305Val) c.857A>T (p.Glu286Val) | |
| 9 | g.130872164A= | CA1881474747 | ABL1 | c.915A= (p.Glu305=) c.858A= (p.Glu286=) | |
| 9 | g.130872164A>C | CA375249219 | ABL1 | c.915A>C (p.Glu305Asp) c.858A>C (p.Glu286Asp) | |
| 9 | g.130872164A>G | CA5285309 | ABL1 | c.915A>G (p.Glu305=) c.858A>G (p.Glu286=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.130872164A>T | CA375249220 | ABL1 | c.915A>T (p.Glu305Asp) c.858A>T (p.Glu286Asp) | |
| 9 | g.130872165G>A | CA375249221 | ABL1 | c.916G>A (p.Ala306Thr) c.859G>A (p.Ala287Thr) | |
| 9 | g.130872165G>C | CA375249222 | ABL1 | c.916G>C (p.Ala306Pro) c.859G>C (p.Ala287Pro) | |
| 9 | g.130872165G>T | CA375249223 | ABL1 | c.916G>T (p.Ala306Ser) c.859G>T (p.Ala287Ser) | |
| 9 | g.130872166C>A | CA375249226 | ABL1 | c.917C>A (p.Ala306Asp) c.860C>A (p.Ala287Asp) | |
| 9 | g.130872166C>G | CA375249224 | ABL1 | c.917C>G (p.Ala306Gly) c.860C>G (p.Ala287Gly) | |
| 9 | g.130872166C>T | CA375249225 | ABL1 | c.917C>T (p.Ala306Val) c.860C>T (p.Ala287Val) | |
| 9 | g.130872167T>A | CA467394975 | ABL1 | c.918T>A (p.Ala306=) c.861T>A (p.Ala287=) | |
| 9 | g.130872167T>C | CA467394976 | ABL1 | c.918T>C (p.Ala306=) c.861T>C (p.Ala287=) | |
| 9 | g.130872167T>G | CA467394977 | ABL1 | c.918T>G (p.Ala306=) c.861T>G (p.Ala287=) | |
| 9 | g.130872168G>A | CA5285310 | ABL1 | c.919G>A (p.Ala307Thr) c.862G>A (p.Ala288Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.130872168G>C | CA375249227 | ABL1 | c.919G>C (p.Ala307Pro) c.862G>C (p.Ala288Pro) | |
| 9 | g.130872168G= | CA1881474750 | ABL1 | c.919G= (p.Ala307=) c.862G= (p.Ala288=) | |
| 9 | g.130872168G>T | CA375249228 | ABL1 | c.919G>T (p.Ala307Ser) c.862G>T (p.Ala288Ser) | |
| 9 | g.130872169C>A | CA375249229 | ABL1 | c.920C>A (p.Ala307Glu) c.863C>A (p.Ala288Glu) | |
| 9 | g.130872169C= | CA1881474751 | ABL1 | c.920C= (p.Ala307=) c.863C= (p.Ala288=) | |
| 9 | g.130872169C>G | CA375249230 | ABL1 | c.920C>G (p.Ala307Gly) c.863C>G (p.Ala288Gly) | |
| 9 | g.130872169C>T | CA375249231 | ABL1 | c.920C>T (p.Ala307Val) c.863C>T (p.Ala288Val) | dbSNP gnomAD v4 COSMIC |
| 9 | g.130872170A>C | CA467394978 | ABL1 | c.921A>C (p.Ala307=) c.864A>C (p.Ala288=) | |
| 9 | g.130872170A>G | CA467394979 | ABL1 | c.921A>G (p.Ala307=) c.864A>G (p.Ala288=) | |
| 9 | g.130872170A>T | CA467394980 | ABL1 | c.921A>T (p.Ala307=) c.864A>T (p.Ala288=) | |
| 9 | g.130872171G>A | CA375249232 | ABL1 | c.922G>A (p.Val308Ile) c.865G>A (p.Val289Ile) | |
| 9 | g.130872171G>C | CA375249233 | ABL1 | c.922G>C (p.Val308Leu) c.865G>C (p.Val289Leu) | |
| 9 | g.130872171G>T | CA375249234 | ABL1 | c.922G>T (p.Val308Phe) c.865G>T (p.Val289Phe) | |
| 9 | g.130872172T>A | CA375249235 | ABL1 | c.923T>A (p.Val308Asp) c.866T>A (p.Val289Asp) | |
| 9 | g.130872172T>C | CA375249236 | ABL1 | c.923T>C (p.Val308Ala) c.866T>C (p.Val289Ala) | |
| 9 | g.130872172T>G | CA375249237 | ABL1 | c.923T>G (p.Val308Gly) c.866T>G (p.Val289Gly) | |
| 9 | g.130872173C>A | CA467394981 | ABL1 | c.924C>A (p.Val308=) c.867C>A (p.Val289=) | |
| 9 | g.130872173C>G | CA467394982 | ABL1 | c.924C>G (p.Val308=) c.867C>G (p.Val289=) | dbSNP |
| 9 | g.130872173C>T | CA467394983 | ABL1 | c.924C>T (p.Val308=) c.867C>T (p.Val289=) | |
| 9 | g.130872174A>C | CA375249239 | ABL1 | c.925A>C (p.Met309Leu) c.868A>C (p.Met290Leu) | |
| 9 | g.130872174A>G | CA375249240 | ABL1 | c.925A>G (p.Met309Val) c.868A>G (p.Met290Val) | |
| 9 | g.130872174A>T | CA375249238 | ABL1 | c.925A>T (p.Met309Leu) c.868A>T (p.Met290Leu) | |
| 9 | g.130872175T>A | CA375249241 | ABL1 | c.926T>A (p.Met309Lys) c.869T>A (p.Met290Lys) | |
| 9 | g.130872175T>C | CA375249242 | ABL1 | c.926T>C (p.Met309Thr) c.869T>C (p.Met290Thr) | |
| 9 | g.130872175T>G | CA375249243 | ABL1 | c.926T>G (p.Met309Arg) c.869T>G (p.Met290Arg) | |
| 9 | g.130872176G>A | CA375249244 | ABL1 | c.927G>A (p.Met309Ile) c.870G>A (p.Met290Ile) | |
| 9 | g.130872176G>C | CA375249245 | ABL1 | c.927G>C (p.Met309Ile) c.870G>C (p.Met290Ile) | |
| 9 | g.130872176G>T | CA375249246 | ABL1 | c.927G>T (p.Met309Ile) c.870G>T (p.Met290Ile) | |
| 9 | g.130872177A>C | CA375249249 | ABL1 | c.928A>C (p.Lys310Gln) c.871A>C (p.Lys291Gln) | |
| 9 | g.130872177A>G | CA375249247 | ABL1 | c.928A>G (p.Lys310Glu) c.871A>G (p.Lys291Glu) | |
| 9 | g.130872177A>T | CA375249248 | ABL1 | c.928A>T (p.Lys310Ter) c.871A>T (p.Lys291Ter) | |
| 9 | g.130872178A>C | CA375249250 | ABL1 | c.929A>C (p.Lys310Thr) c.872A>C (p.Lys291Thr) | |
| 9 | g.130872178A>G | CA375249251 | ABL1 | c.929A>G (p.Lys310Arg) c.872A>G (p.Lys291Arg) | |
| 9 | g.130872178A>T | CA375249252 | ABL1 | c.929A>T (p.Lys310Ile) c.872A>T (p.Lys291Ile) | |
| 9 | g.130872179A>C | CA375249253 | ABL1 | c.930A>C (p.Lys310Asn) c.873A>C (p.Lys291Asn) | |
| 9 | g.130872179A>G | CA467394985 | ABL1 | c.930A>G (p.Lys310=) c.873A>G (p.Lys291=) | |
| 9 | g.130872179A>T | CA375249254 | ABL1 | c.930A>T (p.Lys310Asn) c.873A>T (p.Lys291Asn) | |
| 9 | g.130872180G>A | CA375249255 | ABL1 | c.931G>A (p.Glu311Lys) c.874G>A (p.Glu292Lys) | dbSNP |
| 9 | g.130872180G>C | CA375249257 | ABL1 | c.931G>C (p.Glu311Gln) c.874G>C (p.Glu292Gln) | |
| 9 | g.130872180G>T | CA375249256 | ABL1 | c.931G>T (p.Glu311Ter) c.874G>T (p.Glu292Ter) | |
| 9 | g.130872181A>C | CA375249258 | ABL1 | c.932A>C (p.Glu311Ala) c.875A>C (p.Glu292Ala) | |
| 9 | g.130872181A>G | CA375249259 | ABL1 | c.932A>G (p.Glu311Gly) c.875A>G (p.Glu292Gly) | |
| 9 | g.130872181A>T | CA375249260 | ABL1 | c.932A>T (p.Glu311Val) c.875A>T (p.Glu292Val) | ClinVar |
| 9 | g.130872182G>A | CA467394986 | ABL1 | c.933G>A (p.Glu311=) c.876G>A (p.Glu292=) | |
| 9 | g.130872182G>C | CA375249261 | ABL1 | c.933G>C (p.Glu311Asp) c.876G>C (p.Glu292Asp) | |
| 9 | g.130872182G>T | CA375249262 | ABL1 | c.933G>T (p.Glu311Asp) c.876G>T (p.Glu292Asp) | |
| 9 | g.130872183A>C | CA375249263 | ABL1 | c.934A>C (p.Ile312Leu) c.877A>C (p.Ile293Leu) | gnomAD v4 |
| 9 | g.130872183A>G | CA375249264 | ABL1 | c.934A>G (p.Ile312Val) c.877A>G (p.Ile293Val) | |
| 9 | g.130872183A>T | CA375249265 | ABL1 | c.934A>T (p.Ile312Phe) c.877A>T (p.Ile293Phe) | |
| 9 | g.130872184T>A | CA375249266 | ABL1 | c.935T>A (p.Ile312Asn) c.878T>A (p.Ile293Asn) | |
| 9 | g.130872184T>C | CA375249267 | ABL1 | c.935T>C (p.Ile312Thr) c.878T>C (p.Ile293Thr) | |
| 9 | g.130872184T>G | CA375249268 | ABL1 | c.935T>G (p.Ile312Ser) c.878T>G (p.Ile293Ser) | |
| 9 | g.130872184_130872185insGCC | CA645556975 | ABL1 | c.935_936insGCC (p.Ile312delinsMetPro) c.878_879insGCC (p.Ile293delinsMetPro) | COSMIC |
| 9 | g.130872185C>A | CA467394988 | ABL1 | c.936C>A (p.Ile312=) c.879C>A (p.Ile293=) | COSMIC COSMIC COSMIC |
| 9 | g.130872185C>G | CA375249269 | ABL1 | c.936C>G (p.Ile312Met) c.879C>G (p.Ile293Met) | |
| 9 | g.130872185C>T | CA467394989 | ABL1 | c.936C>T (p.Ile312=) c.879C>T (p.Ile293=) | gnomAD v4 |
| 9 | g.130872186A>C | CA375249270 | ABL1 | c.937A>C (p.Lys313Gln) c.880A>C (p.Lys294Gln) | |
| 9 | g.130872186A>G | CA375249272 | ABL1 | c.937A>G (p.Lys313Glu) c.880A>G (p.Lys294Glu) | |
| 9 | g.130872186A>T | CA375249271 | ABL1 | c.937A>T (p.Lys313Ter) c.880A>T (p.Lys294Ter) | |
| 9 | g.130872186_130872187delinsCGGGGGGG | CA645556976 | ABL1 | c.937_938delinsCGGGGGGG (p.Lys313delinsArgGlyGly) c.880_881delinsCGGGGGGG (p.Lys294delinsArgGlyGly) | COSMIC |
| 9 | g.130872187A>C | CA375249273 | ABL1 | c.938A>C (p.Lys313Thr) c.881A>C (p.Lys294Thr) | |
| 9 | g.130872187A>G | CA375249274 | ABL1 | c.938A>G (p.Lys313Arg) c.881A>G (p.Lys294Arg) | |
| 9 | g.130872187A>T | CA375249275 | ABL1 | c.938A>T (p.Lys313Ile) c.881A>T (p.Lys294Ile) | |
| 9 | g.130872188A>C | CA375249276 | ABL1 | c.939A>C (p.Lys313Asn) c.882A>C (p.Lys294Asn) | |
| 9 | g.130872188A>G | CA467394990 | ABL1 | c.939A>G (p.Lys313=) c.882A>G (p.Lys294=) | gnomAD v4 |
| 9 | g.130872188A>T | CA375249277 | ABL1 | c.939A>T (p.Lys313Asn) c.882A>T (p.Lys294Asn) | ClinVar |
| 9 | g.130872189C>A | CA375249278 | ABL1 | c.940C>A (p.His314Asn) c.883C>A (p.His295Asn) | |
| 9 | g.130872189C>G | CA375249279 | ABL1 | c.940C>G (p.His314Asp) c.883C>G (p.His295Asp) | |
| 9 | g.130872189C>T | CA375249280 | ABL1 | c.940C>T (p.His314Tyr) c.883C>T (p.His295Tyr) | COSMIC |
| 9 | g.130872190_130872192dup | CA645556977 | ABL1 | c.941_943dup (p.His314_Pro315insHis) c.884_886dup (p.His295_Pro296insHis) | COSMIC |
| 9 | g.130872190A>C | CA375249281 | ABL1 | c.941A>C (p.His314Pro) c.884A>C (p.His295Pro) | |
| 9 | g.130872190A>G | CA375249282 | ABL1 | c.941A>G (p.His314Arg) c.884A>G (p.His295Arg) | |
| 9 | g.130872190A>T | CA375249283 | ABL1 | c.941A>T (p.His314Leu) c.884A>T (p.His295Leu) | |
| 9 | g.130872191C>A | CA375249284 | ABL1 | c.942C>A (p.His314Gln) c.885C>A (p.His295Gln) | |
| 9 | g.130872191C>G | CA375249285 | ABL1 | c.942C>G (p.His314Gln) c.885C>G (p.His295Gln) | |
| 9 | g.130872191C>T | CA467394991 | ABL1 | c.942C>T (p.His314=) c.885C>T (p.His295=) | |
| 9 | g.130872192C>A | CA375249287 | ABL1 | c.943C>A (p.Pro315Thr) c.886C>A (p.Pro296Thr) | |
| 9 | g.130872192C= | CA1881474752 | ABL1 | c.943C= (p.Pro315=) c.886C= (p.Pro296=) | |
| 9 | g.130872192C>G | CA375249286 | ABL1 | c.943C>G (p.Pro315Ala) c.886C>G (p.Pro296Ala) | |
| 9 | g.130872192C>T | CA200645031 | ABL1 | c.943C>T (p.Pro315Ser) c.886C>T (p.Pro296Ser) | dbSNP COSMIC |
| 9 | g.130872193C>A | CA375249288 | ABL1 | c.944C>A (p.Pro315His) c.887C>A (p.Pro296His) | gnomAD v4 |
| 9 | g.130872193C>G | CA375249289 | ABL1 | c.944C>G (p.Pro315Arg) c.887C>G (p.Pro296Arg) | |
| 9 | g.130872193C>T | CA375249290 | ABL1 | c.944C>T (p.Pro315Leu) c.887C>T (p.Pro296Leu) | COSMIC |
| 9 | g.130872194T>A | CA467394992 | ABL1 | c.945T>A (p.Pro315=) c.888T>A (p.Pro296=) | |
| 9 | g.130872194T>C | CA467394994 | ABL1 | c.945T>C (p.Pro315=) c.888T>C (p.Pro296=) | |
| 9 | g.130872194T>G | CA467394993 | ABL1 | c.945T>G (p.Pro315=) c.888T>G (p.Pro296=) | |
| 9 | g.130872195A>C | CA375249291 | ABL1 | c.946A>C (p.Asn316His) c.889A>C (p.Asn297His) | |
| 9 | g.130872195A>G | CA375249292 | ABL1 | c.946A>G (p.Asn316Asp) c.889A>G (p.Asn297Asp) | |
| 9 | g.130872195A>T | CA375249293 | ABL1 | c.946A>T (p.Asn316Tyr) c.889A>T (p.Asn297Tyr) | |
| 9 | g.130872196A= | CA1881474753 | ABL1 | c.947A= (p.Asn316=) c.890A= (p.Asn297=) | |
| 9 | g.130872196A>C | CA375249294 | ABL1 | c.947A>C (p.Asn316Thr) c.890A>C (p.Asn297Thr) | |
| 9 | g.130872196A>G | CA5285311 | ABL1 | c.947A>G (p.Asn316Ser) c.890A>G (p.Asn297Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.130872196A>T | CA375249295 | ABL1 | c.947A>T (p.Asn316Ile) c.890A>T (p.Asn297Ile) | |
| 9 | g.130872197C>A | CA375249296 | ABL1 | c.948C>A (p.Asn316Lys) c.891C>A (p.Asn297Lys) | |
| 9 | g.130872197C= | CA1881474754 | ABL1 | c.948C= (p.Asn316=) c.891C= (p.Asn297=) | |
| 9 | g.130872197C>G | CA375249297 | ABL1 | c.948C>G (p.Asn316Lys) c.891C>G (p.Asn297Lys) | dbSNP |
| 9 | g.130872197C>T | CA5285312 | ABL1 | c.948C>T (p.Asn316=) c.891C>T (p.Asn297=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.130872198C>A | CA375249298 | ABL1 | c.949C>A (p.Leu317Met) c.892C>A (p.Leu298Met) | |
| 9 | g.130872198C>G | CA375249299 | ABL1 | c.949C>G (p.Leu317Val) c.892C>G (p.Leu298Val) | |
| 9 | g.130872198C>T | CA467394995 | ABL1 | c.949C>T (p.Leu317=) c.892C>T (p.Leu298=) | |
| 9 | g.130872199T>A | CA375249300 | ABL1 | c.950T>A (p.Leu317Gln) c.893T>A (p.Leu298Gln) | |
| 9 | g.130872199T>C | CA375249302 | ABL1 | c.950T>C (p.Leu317Pro) c.893T>C (p.Leu298Pro) | |
| 9 | g.130872199T>G | CA375249301 | ABL1 | c.950T>G (p.Leu317Arg) c.893T>G (p.Leu298Arg) | COSMIC COSMIC COSMIC |
| 9 | g.130872200G>A | CA200645040 | ABL1 | c.951G>A (p.Leu317=) c.894G>A (p.Leu298=) | dbSNP gnomAD v4 |
| 9 | g.130872200G>C | CA467394996 | ABL1 | c.951G>C (p.Leu317=) c.894G>C (p.Leu298=) | |
| 9 | g.130872200G= | CA1881474755 | ABL1 | c.951G= (p.Leu317=) c.894G= (p.Leu298=) | |
| 9 | g.130872200G>T | CA467394997 | ABL1 | c.951G>T (p.Leu317=) c.894G>T (p.Leu298=) | |
| 9 | g.130872201G>A | CA375249304 | ABL1 | c.952G>A (p.Val318Met) c.895G>A (p.Val299Met) | |
| 9 | g.130872201G>C | CA16602575 | ABL1 | c.952G>C (p.Val318Leu) c.895G>C (p.Val299Leu) | ClinVar dbSNP |
| 9 | g.130872201G= | CA1881474756 | ABL1 | c.952G= (p.Val318=) c.895G= (p.Val299=) | |
| 9 | g.130872201G>T | CA375249303 | ABL1 | c.952G>T (p.Val318Leu) c.895G>T (p.Val299Leu) | |
| 9 | g.130872202T>A | CA375249305 | ABL1 | c.953T>A (p.Val318Glu) c.896T>A (p.Val299Glu) | |
| 9 | g.130872202T>C | CA375249306 | ABL1 | c.953T>C (p.Val318Ala) c.896T>C (p.Val299Ala) | |
| 9 | g.130872202T>G | CA375249307 | ABL1 | c.953T>G (p.Val318Gly) c.896T>G (p.Val299Gly) | |
| 9 | g.130872203G>A | CA467394998 | ABL1 | c.954G>A (p.Val318=) c.897G>A (p.Val299=) | ClinVar gnomAD v4 COSMIC COSMIC COSMIC |
| 9 | g.130872203G>C | CA467394999 | ABL1 | c.954G>C (p.Val318=) c.897G>C (p.Val299=) | |
| 9 | g.130872203G>T | CA467395000 | ABL1 | c.954G>T (p.Val318=) c.897G>T (p.Val299=) | |
| 9 | g.130872204C>A | CA375249308 | ABL1 | c.955C>A (p.Gln319Lys) c.898C>A (p.Gln300Lys) | |
| 9 | g.130872204C>G | CA375249309 | ABL1 | c.955C>G (p.Gln319Glu) c.898C>G (p.Gln300Glu) | |
| 9 | g.130872204C>T | CA375249310 | ABL1 | c.955C>T (p.Gln319Ter) c.898C>T (p.Gln300Ter) | |
| 9 | g.130872205A>C | CA375249311 | ABL1 | c.956A>C (p.Gln319Pro) c.899A>C (p.Gln300Pro) | |
| 9 | g.130872205A>G | CA375249312 | ABL1 | c.956A>G (p.Gln319Arg) c.899A>G (p.Gln300Arg) | |
| 9 | g.130872205A>T | CA375249313 | ABL1 | c.956A>T (p.Gln319Leu) c.899A>T (p.Gln300Leu) | |
| 9 | g.130872206G>A | CA467395001 | ABL1 | c.957G>A (p.Gln319=) c.900G>A (p.Gln300=) | |
| 9 | g.130872206G>C | CA375249314 | ABL1 | c.957G>C (p.Gln319His) c.900G>C (p.Gln300His) | |
| 9 | g.130872206G>T | CA375249315 | ABL1 | c.957G>T (p.Gln319His) c.900G>T (p.Gln300His) | |
| 9 | g.130872207C>A | CA375249316 | ABL1 | c.958C>A (p.Leu320Ile) c.901C>A (p.Leu301Ile) | |
| 9 | g.130872207C>G | CA375249318 | ABL1 | c.958C>G (p.Leu320Val) c.901C>G (p.Leu301Val) | |
| 9 | g.130872207C>T | CA375249317 | ABL1 | c.958C>T (p.Leu320Phe) c.901C>T (p.Leu301Phe) | COSMIC |
| 9 | g.130872208T>A | CA375249319 | ABL1 | c.959T>A (p.Leu320His) c.902T>A (p.Leu301His) | |
| 9 | g.130872208T>C | CA375249320 | ABL1 | c.959T>C (p.Leu320Pro) c.902T>C (p.Leu301Pro) | |
| 9 | g.130872208T>G | CA375249321 | ABL1 | c.959T>G (p.Leu320Arg) c.902T>G (p.Leu301Arg) | |
| 9 | g.130872209C>A | CA467395002 | ABL1 | c.960C>A (p.Leu320=) c.903C>A (p.Leu301=) | |
| 9 | g.130872209C= | CA1881474757 | ABL1 | c.960C= (p.Leu320=) c.903C= (p.Leu301=) | |
| 9 | g.130872209C>G | CA467395003 | ABL1 | c.960C>G (p.Leu320=) c.903C>G (p.Leu301=) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.130872209C>T | CA467395004 | ABL1 | c.960C>T (p.Leu320=) c.903C>T (p.Leu301=) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.130872210C>A | CA375249322 | ABL1 | c.961C>A (p.Leu321Ile) c.904C>A (p.Leu302Ile) | |
| 9 | g.130872210C>G | CA375249323 | ABL1 | c.961C>G (p.Leu321Val) c.904C>G (p.Leu302Val) | |
| 9 | g.130872210C>T | CA375249324 | ABL1 | c.961C>T (p.Leu321Phe) c.904C>T (p.Leu302Phe) | gnomAD v4 |
| 9 | g.130872211T>A | CA375249325 | ABL1 | c.962T>A (p.Leu321His) c.905T>A (p.Leu302His) | |
| 9 | g.130872211T>C | CA375249326 | ABL1 | c.962T>C (p.Leu321Pro) c.905T>C (p.Leu302Pro) | |
| 9 | g.130872211T>G | CA375249327 | ABL1 | c.962T>G (p.Leu321Arg) c.905T>G (p.Leu302Arg) | |
| 9 | g.130872211_130872212insGCAGAAGGAAAAAAACGAAGG | CA2720747397 | ABL1 | c.962_963insGCAGAAGGAAAAAAACGAAGG (p.Leu321_Gly322insGlnLysGluLysAsnGluGly) c.905_906insGCAGAAGGAAAAAAACGAAGG (p.Leu302_Gly303insGlnLysGluLysAsnGluGly) | dbSNP |
| 9 | g.130872211_130872212insGCAGAAGGAAAAAAACGAAGGTGAAATTA | CA2720747398 | ABL1 | c.962_963insGCAGAAGGAAAAAAACGAAGGTGAAATTA (p.Gly322GlnfsTer26) c.905_906insGCAGAAGGAAAAAAACGAAGGTGAAATTA (p.Gly303GlnfsTer26) | dbSNP |
| 9 | g.130872212T>A | CA467395005 | ABL1 | c.963T>A (p.Leu321=) c.906T>A (p.Leu302=) | |
| 9 | g.130872212T>C | CA5285313 | ABL1 | c.963T>C (p.Leu321=) c.906T>C (p.Leu302=) | dbSNP ExAC |
| 9 | g.130872212T>G | CA467395006 | ABL1 | c.963T>G (p.Leu321=) c.906T>G (p.Leu302=) | |
| 9 | g.130872212T= | CA1881474758 | ABL1 | c.963T= (p.Leu321=) c.906T= (p.Leu302=) | |
| 9 | g.130872213G>A | CA375249330 | ABL1 | c.964G>A (p.Gly322Arg) c.907G>A (p.Gly303Arg) | COSMIC COSMIC COSMIC |
| 9 | g.130872213G>C | CA375249329 | ABL1 | c.964G>C (p.Gly322Arg) c.907G>C (p.Gly303Arg) | |
| 9 | g.130872213G>T | CA375249328 | ABL1 | c.964G>T (p.Gly322Trp) c.907G>T (p.Gly303Trp) | |
| 9 | g.130872214G>A | CA375249331 | ABL1 | c.964+1G>A (n.964+1G>A) c.907+1G>A (n.907+1G>A) | |
| 9 | g.130872214G>C | CA375249332 | ABL1 | c.964+1G>C (n.964+1G>C) c.907+1G>C (n.907+1G>C) | |
| 9 | g.130872214G>T | CA375249333 | ABL1 | c.964+1G>T (n.964+1G>T) c.907+1G>T (n.907+1G>T) | |
| 9 | g.130872215T>A | CA375249334 | ABL1 | c.964+2T>A (n.964+2T>A) c.907+2T>A (n.907+2T>A) | |
| 9 | g.130872215T>C | CA375249335 | ABL1 | c.964+2T>C (n.964+2T>C) c.907+2T>C (n.907+2T>C) | |
| 9 | g.130872215T>G | CA375249336 | ABL1 | c.964+2T>G (n.964+2T>G) c.907+2T>G (n.907+2T>G) | |
| 9 | g.130872216G>A | CA5285314 | ABL1 | c.964+3G>A (n.964+3G>A) c.907+3G>A (n.907+3G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.130872216G= | CA1881474759 | ABL1 | c.964+3G= (n.964+3G=) c.907+3G= (n.907+3G=) | |
| 9 | g.130872216G>T | CA1129551773 | ABL1 | c.964+3G>T (n.964+3G>T) c.907+3G>T (n.907+3G>T) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.130872217A= | CA1881474760 | ABL1 | c.964+4A= (n.964+4A=) c.907+4A= (n.907+4A=) | |
| 9 | g.130872217A>G | CA1881474761 | ABL1 | c.964+4A>G (n.964+4A>G) c.907+4A>G (n.907+4A>G) | dbSNP gnomAD v4 |
| 9 | g.130872218G>A | CA2720747400 | ABL1 | c.964+5G>A (n.964+5G>A) c.907+5G>A (n.907+5G>A) | dbSNP |
| 9 | g.130872221del | CA2579484996 | ABL1 | c.964+8del (n.964+8del) c.907+8del (n.907+8del) | |
| 9 | g.130872224C= | CA1881474762 | ABL1 | c.964+11C= (n.964+11C=) c.907+11C= (n.907+11C=) | |
| 9 | g.130872224C>T | CA590717845 | ABL1 | c.964+11C>T (n.964+11C>T) c.907+11C>T (n.907+11C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.130872225C>A | CA2786086844 | ABL1 | c.964+12C>A (n.964+12C>A) c.907+12C>A (n.907+12C>A) | |
| 9 | g.130872225C= | CA1881474763 | ABL1 | c.964+12C= (n.964+12C=) c.907+12C= (n.907+12C=) | |
| 9 | g.130872225C>T | CA5285315 | ABL1 | c.964+12C>T (n.964+12C>T) c.907+12C>T (n.907+12C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.130872225_130872226delinsCG | CA1881474764 | ABL1 | c.964+12_964+13delinsCG (n.964+12_964+13delinsCG) c.907+12_907+13delinsCG (n.907+12_907+13delinsCG) | |
| 9 | g.130872226G>A | CA590717849 | ABL1 | c.964+13G>A (n.964+13G>A) c.907+13G>A (n.907+13G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 9 | g.130872226G= | CA1881474765 | ABL1 | c.964+13G= (n.964+13G=) c.907+13G= (n.907+13G=) | |
| 9 | g.130872229del | CA5285316 | ABL1 | c.964+16del (n.964+16del) c.907+16del (n.907+16del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.130872228G>A | CA590717850 | ABL1 | c.964+15G>A (n.964+15G>A) c.907+15G>A (n.907+15G>A) | dbSNP gnomAD v2 |
| 9 | g.130872228G= | CA1881474766 | ABL1 | c.964+15G= (n.964+15G=) c.907+15G= (n.907+15G=) | |
| 9 | g.130872229G>A | CA2720747410 | ABL1 | c.964+16G>A (n.964+16G>A) c.907+16G>A (n.907+16G>A) | dbSNP |
| 9 | g.130872229G>C | CA2692152525 | ABL1 | c.964+16G>C (n.964+16G>C) c.907+16G>C (n.907+16G>C) | gnomAD v4 |
| 9 | g.130872230C>A | CA2692152527 | ABL1 | c.964+17C>A (n.964+17C>A) c.907+17C>A (n.907+17C>A) | gnomAD v4 |
| 9 | g.130872230C>T | CA2692152526 | ABL1 | c.964+17C>T (n.964+17C>T) c.907+17C>T (n.907+17C>T) | gnomAD v4 |
| 9 | g.130872232C= | CA1881474767 | ABL1 | c.964+19C= (n.964+19C=) c.907+19C= (n.907+19C=) | |
| 9 | g.130872232C>G | CA1881474768 | ABL1 | c.964+19C>G (n.964+19C>G) c.907+19C>G (n.907+19C>G) | dbSNP |
| 9 | g.130872232C>T | CA2579485001 | ABL1 | c.964+19C>T (n.964+19C>T) c.907+19C>T (n.907+19C>T) | |
| 9 | g.130872234G>A | CA5285317 | ABL1 | c.964+21G>A (n.964+21G>A) c.907+21G>A (n.907+21G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.130872234G= | CA1881474769 | ABL1 | c.964+21G= (n.964+21G=) c.907+21G= (n.907+21G=) | |
| 9 | g.130872236A>G | CA2786086845 | ABL1 | c.964+23A>G (n.964+23A>G) c.907+23A>G (n.907+23A>G) | |
| 9 | g.130872238A>T | CA2692152528 | ABL1 | c.964+25A>T (n.964+25A>T) c.907+25A>T (n.907+25A>T) | gnomAD v4 |
| 9 | g.130872239G>A | CA590717851 | ABL1 | c.964+26G>A (n.964+26G>A) c.907+26G>A (n.907+26G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.130872239G>C | CA200645067 | ABL1 | c.964+26G>C (n.964+26G>C) c.907+26G>C (n.907+26G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.130872239G= | CA1881474770 | ABL1 | c.964+26G= (n.964+26G=) c.907+26G= (n.907+26G=) | |
| 9 | g.130872240A= | CA1881474771 | ABL1 | c.964+27A= (n.964+27A=) c.907+27A= (n.907+27A=) | |
| 9 | g.130872240A>G | CA5285318 | ABL1 | c.964+27A>G (n.964+27A>G) c.907+27A>G (n.907+27A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.130872241G>C | CA200645070 | ABL1 | c.964+28G>C (n.964+28G>C) c.907+28G>C (n.907+28G>C) | dbSNP |
| 9 | g.130872241G= | CA1881474772 | ABL1 | c.964+28G= (n.964+28G=) c.907+28G= (n.907+28G=) | |
| 9 | g.130872243del | CA2579485002 | ABL1 | c.964+30del (n.964+30del) c.907+30del (n.907+30del) | |
| 9 | g.130872242G>A | CA590717854 | ABL1 | c.964+29G>A (n.964+29G>A) c.907+29G>A (n.907+29G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.130872242G>C | CA915827069 | ABL1 | c.964+29G>C (n.964+29G>C) c.907+29G>C (n.907+29G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.130872242G= | CA1881474773 | ABL1 | c.964+29G= (n.964+29G=) c.907+29G= (n.907+29G=) | |
| 9 | g.130872242G>T | CA590717856 | ABL1 | c.964+29G>T (n.964+29G>T) c.907+29G>T (n.907+29G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.130872243G>T | CA2720747411 | ABL1 | c.964+30G>T (n.964+30G>T) c.907+30G>T (n.907+30G>T) | dbSNP |
| 9 | g.130872245C>T | CA2692152530 | ABL1 | c.964+32C>T (n.964+32C>T) c.907+32C>T (n.907+32C>T) | gnomAD v4 |
| 9 | g.130872245_130872247del | CA2692152529 | ABL1 | c.964+32_964+34del (n.964+32_964+34del) c.907+32_907+34del (n.907+32_907+34del) | gnomAD v4 |
| 9 | g.130872247C>A | CA2692152531 | ABL1 | c.964+34C>A (n.964+34C>A) c.907+34C>A (n.907+34C>A) | gnomAD v4 |
| 9 | g.130872247C= | CA1881474774 | ABL1 | c.964+34C= (n.964+34C=) c.907+34C= (n.907+34C=) | |
| 9 | g.130872247C>T | CA200645073 | ABL1 | c.964+34C>T (n.964+34C>T) c.907+34C>T (n.907+34C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.130872248G>A | CA5285319 | ABL1 | c.964+35G>A (n.964+35G>A) c.907+35G>A (n.907+35G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.130872248G= | CA1881474775 | ABL1 | c.964+35G= (n.964+35G=) c.907+35G= (n.907+35G=) | |
| 9 | g.130872248G>T | CA2692152532 | ABL1 | c.964+35G>T (n.964+35G>T) c.907+35G>T (n.907+35G>T) | gnomAD v4 |
| 9 | g.130872249C= | CA1881474776 | ABL1 | c.964+36C= (n.964+36C=) c.907+36C= (n.907+36C=) | |
| 9 | g.130872249C>T | CA5285320 | ABL1 | c.964+36C>T (n.964+36C>T) c.907+36C>T (n.907+36C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.130872250G>A | CA5285321 | ABL1 | c.964+37G>A (n.964+37G>A) c.907+37G>A (n.907+37G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 9 | g.130872250G= | CA1881474777 | ABL1 | c.964+37G= (n.964+37G=) c.907+37G= (n.907+37G=) | |
| 9 | g.130872250G>T | CA2692152533 | ABL1 | c.964+37G>T (n.964+37G>T) c.907+37G>T (n.907+37G>T) | gnomAD v4 |
| 9 | g.130872251C>A | CA2692152534 | ABL1 | c.964+38C>A (n.964+38C>A) c.907+38C>A (n.907+38C>A) | gnomAD v4 |
| 9 | g.130872251C= | CA1881474778 | ABL1 | c.964+38C= (n.964+38C=) c.907+38C= (n.907+38C=) | |
| 9 | g.130872251C>T | CA1881474779 | ABL1 | c.964+38C>T (n.964+38C>T) c.907+38C>T (n.907+38C>T) | dbSNP gnomAD v4 |
| 9 | g.130872252C= | CA1881474780 | ABL1 | c.964+39C= (n.964+39C=) c.907+39C= (n.907+39C=) | |
| 9 | g.130872252C>T | CA5285322 | ABL1 | c.964+39C>T (n.964+39C>T) c.907+39C>T (n.907+39C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.130872252_130872253delinsCG | CA1881474781 | ABL1 | c.964+39_964+40delinsCG (n.964+39_964+40delinsCG) c.907+39_907+40delinsCG (n.907+39_907+40delinsCG) | |
| 9 | g.130872252_130872262del | CA2720747412 | ABL1 | c.964+39_964+49del (n.964+39_964+49del) c.907+39_907+49del (n.907+39_907+49del) | dbSNP |
| 9 | g.130872253del | CA1881474783 | ABL1 | c.964+40del (n.964+40del) c.907+40del (n.907+40del) | dbSNP |
| 9 | g.130872253G>A | CA5285323 | ABL1 | c.964+40G>A (n.964+40G>A) c.907+40G>A (n.907+40G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.130872253G= | CA1881474782 | ABL1 | c.964+40G= (n.964+40G=) c.907+40G= (n.907+40G=) |