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 |
|---|---|---|---|---|---|
| 11 | g.116763046A>C | CA477047226 | BUD13 | c.543T>G (p.Arg181=) c.444T>G (p.Arg148=) | |
| 11 | g.116763046A>G | CA477047227 | BUD13 | c.543T>C (p.Arg181=) c.444T>C (p.Arg148=) | |
| 11 | g.116763046A>T | CA477047229 | BUD13 | c.543T>A (p.Arg181=) c.444T>A (p.Arg148=) | |
| 11 | g.116763047C>A | CA382705937 | BUD13 | c.542G>T (p.Arg181Leu) c.443G>T (p.Arg148Leu) | |
| 11 | g.116763047C= | CA2002726646 | BUD13 | c.542G= (p.Arg181=) c.443G= (p.Arg148=) | |
| 11 | g.116763047C>G | CA382705934 | BUD13 | c.542G>C (p.Arg181Pro) c.443G>C (p.Arg148Pro) | |
| 11 | g.116763047C>T | CA6288249 | BUD13 | c.542G>A (p.Arg181His) c.443G>A (p.Arg148His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.116763048G>A | CA6288250 | BUD13 | c.541C>T (p.Arg181Cys) c.442C>T (p.Arg148Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116763048G>C | CA382705943 | BUD13 | c.541C>G (p.Arg181Gly) c.442C>G (p.Arg148Gly) | |
| 11 | g.116763048G= | CA2002726647 | BUD13 | c.541C= (p.Arg181=) c.442C= (p.Arg148=) | |
| 11 | g.116763048G>T | CA382705945 | BUD13 | c.541C>A (p.Arg181Ser) c.442C>A (p.Arg148Ser) | |
| 11 | g.116763049G>A | CA477047230 | BUD13 | c.540C>T (p.Ile180=) c.441C>T (p.Ile147=) | |
| 11 | g.116763049G>C | CA382705947 | BUD13 | c.540C>G (p.Ile180Met) c.441C>G (p.Ile147Met) | |
| 11 | g.116763049G>T | CA477047232 | BUD13 | c.540C>A (p.Ile180=) c.441C>A (p.Ile147=) | |
| 11 | g.116763050A= | CA2002726648 | BUD13 | c.539T= (p.Ile180=) c.440T= (p.Ile147=) | |
| 11 | g.116763050A>C | CA382705951 | BUD13 | c.539T>G (p.Ile180Ser) c.440T>G (p.Ile147Ser) | |
| 11 | g.116763050A>G | CA382705952 | BUD13 | c.539T>C (p.Ile180Thr) c.440T>C (p.Ile147Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.116763050A>T | CA382705955 | BUD13 | c.539T>A (p.Ile180Asn) c.440T>A (p.Ile147Asn) | |
| 11 | g.116763051T>A | CA382705958 | BUD13 | c.538A>T (p.Ile180Phe) c.439A>T (p.Ile147Phe) | |
| 11 | g.116763051T>C | CA382705960 | BUD13 | c.538A>G (p.Ile180Val) c.439A>G (p.Ile147Val) | gnomAD v4 |
| 11 | g.116763051T>G | CA382705962 | BUD13 | c.538A>C (p.Ile180Leu) c.439A>C (p.Ile147Leu) | |
| 11 | g.116763052C>A | CA382705965 | BUD13 | c.537G>T (p.Arg179Ser) c.438G>T (p.Arg146Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.116763052C= | CA2002726649 | BUD13 | c.537G= (p.Arg179=) c.438G= (p.Arg146=) | |
| 11 | g.116763052C>G | CA382705968 | BUD13 | c.537G>C (p.Arg179Ser) c.438G>C (p.Arg146Ser) | dbSNP |
| 11 | g.116763052C>T | CA477047236 | BUD13 | c.537G>A (p.Arg179=) c.438G>A (p.Arg146=) | |
| 11 | g.116763053C>A | CA382705971 | BUD13 | c.536G>T (p.Arg179Met) c.437G>T (p.Arg146Met) | |
| 11 | g.116763053C= | CA2002726650 | BUD13 | c.536G= (p.Arg179=) c.437G= (p.Arg146=) | |
| 11 | g.116763053C>G | CA382705975 | BUD13 | c.536G>C (p.Arg179Thr) c.437G>C (p.Arg146Thr) | |
| 11 | g.116763053C>T | CA382705973 | BUD13 | c.536G>A (p.Arg179Lys) c.437G>A (p.Arg146Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.116763054T>A | CA382705978 | BUD13 | c.535A>T (p.Arg179Trp) c.436A>T (p.Arg146Trp) | |
| 11 | g.116763054T>C | CA382705979 | BUD13 | c.535A>G (p.Arg179Gly) c.436A>G (p.Arg146Gly) | |
| 11 | g.116763054T>G | CA477047237 | BUD13 | c.535A>C (p.Arg179=) c.436A>C (p.Arg146=) | gnomAD v4 |
| 11 | g.116763055C>A | CA382705981 | BUD13 | c.534G>T (p.Arg178Ser) c.435G>T (p.Arg145Ser) | |
| 11 | g.116763055C>G | CA382705983 | BUD13 | c.534G>C (p.Arg178Ser) c.435G>C (p.Arg145Ser) | |
| 11 | g.116763055C>T | CA477047238 | BUD13 | c.534G>A (p.Arg178=) c.435G>A (p.Arg145=) | gnomAD v4 |
| 11 | g.116763056C>A | CA382705986 | BUD13 | c.533G>T (p.Arg178Met) c.434G>T (p.Arg145Met) | |
| 11 | g.116763056C>G | CA382705987 | BUD13 | c.533G>C (p.Arg178Thr) c.434G>C (p.Arg145Thr) | |
| 11 | g.116763056C>T | CA382705989 | BUD13 | c.533G>A (p.Arg178Lys) c.434G>A (p.Arg145Lys) | |
| 11 | g.116763057T>A | CA382705992 | BUD13 | c.532A>T (p.Arg178Trp) c.433A>T (p.Arg145Trp) | |
| 11 | g.116763057T>C | CA382705993 | BUD13 | c.532A>G (p.Arg178Gly) c.433A>G (p.Arg145Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.116763057T>G | CA477047239 | BUD13 | c.532A>C (p.Arg178=) c.433A>C (p.Arg145=) | |
| 11 | g.116763057T= | CA2002726651 | BUD13 | c.532A= (p.Arg178=) c.433A= (p.Arg145=) | |
| 11 | g.116763058G>A | CA477047241 | BUD13 | c.531C>T (p.Pro177=) c.432C>T (p.Pro144=) | |
| 11 | g.116763058G>C | CA477047242 | BUD13 | c.531C>G (p.Pro177=) c.432C>G (p.Pro144=) | |
| 11 | g.116763058G>T | CA477047244 | BUD13 | c.531C>A (p.Pro177=) c.432C>A (p.Pro144=) | |
| 11 | g.116763058_116763061delinsGGGA | CA2002726652 | BUD13 | c.528_531delinsTCCC (p.Pro176=) c.429_432delinsTCCC (p.Pro143=) | |
| 11 | g.116763059G>A | CA382705994 | BUD13 | c.530C>T (p.Pro177Leu) c.431C>T (p.Pro144Leu) | gnomAD v4 COSMIC |
| 11 | g.116763059G>C | CA382705996 | BUD13 | c.530C>G (p.Pro177Arg) c.431C>G (p.Pro144Arg) | |
| 11 | g.116763059G>T | CA382705999 | BUD13 | c.530C>A (p.Pro177His) c.431C>A (p.Pro144His) | |
| 11 | g.116763063_116763065del | CA602136300 | BUD13 | c.528_530del (p.Pro177del) c.429_431del (p.Pro144del) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.116763063_116763137del | CA2616113596 | BUD13 | c.456_530del (p.Arg153_Pro177del) c.357_431del (p.Arg120_Pro144del) | gnomAD v4 |
| 11 | g.116763060G>A | CA229310330 | BUD13 | c.529C>T (p.Pro177Ser) c.430C>T (p.Pro144Ser) | dbSNP gnomAD v4 |
| 11 | g.116763060G>C | CA382706004 | BUD13 | c.529C>G (p.Pro177Ala) c.430C>G (p.Pro144Ala) | |
| 11 | g.116763060G= | CA2002726653 | BUD13 | c.529C= (p.Pro177=) c.430C= (p.Pro144=) | |
| 11 | g.116763060G>T | CA382706002 | BUD13 | c.529C>A (p.Pro177Thr) c.430C>A (p.Pro144Thr) | gnomAD v4 |
| 11 | g.116763061A>C | CA477047246 | BUD13 | c.528T>G (p.Pro176=) c.429T>G (p.Pro143=) | |
| 11 | g.116763061A>G | CA477047248 | BUD13 | c.528T>C (p.Pro176=) c.429T>C (p.Pro143=) | |
| 11 | g.116763061A>T | CA477047250 | BUD13 | c.528T>A (p.Pro176=) c.429T>A (p.Pro143=) | |
| 11 | g.116763062G>A | CA382706008 | BUD13 | c.527C>T (p.Pro176Leu) c.428C>T (p.Pro143Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116763062G>C | CA382706010 | BUD13 | c.527C>G (p.Pro176Arg) c.428C>G (p.Pro143Arg) | |
| 11 | g.116763062G= | CA2002726654 | BUD13 | c.527C= (p.Pro176=) c.428C= (p.Pro143=) | |
| 11 | g.116763062G>T | CA6288251 | BUD13 | c.527C>A (p.Pro176His) c.428C>A (p.Pro143His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.116763063G>A | CA382706014 | BUD13 | c.526C>T (p.Pro176Ser) c.427C>T (p.Pro143Ser) | |
| 11 | g.116763063G>C | CA229310362 | BUD13 | c.526C>G (p.Pro176Ala) c.427C>G (p.Pro143Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.116763063G= | CA2002726655 | BUD13 | c.526C= (p.Pro176=) c.427C= (p.Pro143=) | |
| 11 | g.116763063G>T | CA382706018 | BUD13 | c.526C>A (p.Pro176Thr) c.427C>A (p.Pro143Thr) | |
| 11 | g.116763064A>C | CA477047256 | BUD13 | c.525T>G (p.Ser175=) c.426T>G (p.Ser142=) | |
| 11 | g.116763064A>G | CA477047254 | BUD13 | c.525T>C (p.Ser175=) c.426T>C (p.Ser142=) | |
| 11 | g.116763064A>T | CA477047252 | BUD13 | c.525T>A (p.Ser175=) c.426T>A (p.Ser142=) | |
| 11 | g.116763065G>A | CA382706021 | BUD13 | c.524C>T (p.Ser175Phe) c.425C>T (p.Ser142Phe) | gnomAD v4 |
| 11 | g.116763065G>C | CA382706023 | BUD13 | c.524C>G (p.Ser175Cys) c.425C>G (p.Ser142Cys) | |
| 11 | g.116763065G>T | CA382706026 | BUD13 | c.524C>A (p.Ser175Tyr) c.425C>A (p.Ser142Tyr) | |
| 11 | g.116763066A>C | CA382706029 | BUD13 | c.523T>G (p.Ser175Ala) c.424T>G (p.Ser142Ala) | |
| 11 | g.116763066A>G | CA382706031 | BUD13 | c.523T>C (p.Ser175Pro) c.424T>C (p.Ser142Pro) | |
| 11 | g.116763066A>T | CA382706033 | BUD13 | c.523T>A (p.Ser175Thr) c.424T>A (p.Ser142Thr) | |
| 11 | g.116763067T>A | CA477047258 | BUD13 | c.522A>T (p.Thr174=) c.423A>T (p.Thr141=) | |
| 11 | g.116763067T>C | CA477047260 | BUD13 | c.522A>G (p.Thr174=) c.423A>G (p.Thr141=) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.116763067T>G | CA477047262 | BUD13 | c.522A>C (p.Thr174=) c.423A>C (p.Thr141=) | |
| 11 | g.116763067T= | CA2002726656 | BUD13 | c.522A= (p.Thr174=) c.423A= (p.Thr141=) | |
| 11 | g.116763068G>A | CA382706038 | BUD13 | c.521C>T (p.Thr174Ile) c.422C>T (p.Thr141Ile) | dbSNP |
| 11 | g.116763068G>C | CA382706040 | BUD13 | c.521C>G (p.Thr174Arg) c.422C>G (p.Thr141Arg) | |
| 11 | g.116763068G= | CA2002726657 | BUD13 | c.521C= (p.Thr174=) c.422C= (p.Thr141=) | |
| 11 | g.116763068G>T | CA382706036 | BUD13 | c.521C>A (p.Thr174Lys) c.422C>A (p.Thr141Lys) | |
| 11 | g.116763069T>A | CA382706043 | BUD13 | c.520A>T (p.Thr174Ser) c.421A>T (p.Thr141Ser) | |
| 11 | g.116763069T>C | CA382706045 | BUD13 | c.520A>G (p.Thr174Ala) c.421A>G (p.Thr141Ala) | gnomAD v4 |
| 11 | g.116763069T>G | CA382706047 | BUD13 | c.520A>C (p.Thr174Pro) c.421A>C (p.Thr141Pro) | |
| 11 | g.116763070G>A | CA6288252 | BUD13 | c.519C>T (p.Asp173=) c.420C>T (p.Asp140=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116763070G>C | CA382706050 | BUD13 | c.519C>G (p.Asp173Glu) c.420C>G (p.Asp140Glu) | gnomAD v4 |
| 11 | g.116763070G= | CA2002726658 | BUD13 | c.519C= (p.Asp173=) c.420C= (p.Asp140=) | |
| 11 | g.116763070G>T | CA382706051 | BUD13 | c.519C>A (p.Asp173Glu) c.420C>A (p.Asp140Glu) | |
| 11 | g.116763071T>A | CA382706054 | BUD13 | c.518A>T (p.Asp173Val) c.419A>T (p.Asp140Val) | |
| 11 | g.116763071T>C | CA382706056 | BUD13 | c.518A>G (p.Asp173Gly) c.419A>G (p.Asp140Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.116763071T>G | CA382706058 | BUD13 | c.518A>C (p.Asp173Ala) c.419A>C (p.Asp140Ala) | |
| 11 | g.116763071T= | CA2002726659 | BUD13 | c.518A= (p.Asp173=) c.419A= (p.Asp140=) | |
| 11 | g.116763072C>A | CA382706061 | BUD13 | c.517G>T (p.Asp173Tyr) c.418G>T (p.Asp140Tyr) | |
| 11 | g.116763072C= | CA2002726660 | BUD13 | c.517G= (p.Asp173=) c.418G= (p.Asp140=) | |
| 11 | g.116763072C>G | CA382706062 | BUD13 | c.517G>C (p.Asp173His) c.418G>C (p.Asp140His) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.116763072C>T | CA382706064 | BUD13 | c.517G>A (p.Asp173Asn) c.418G>A (p.Asp140Asn) | |
| 11 | g.116763073T>A | CA477047266 | BUD13 | c.516A>T (p.Ser172=) c.417A>T (p.Ser139=) | |
| 11 | g.116763073T>C | CA477047267 | BUD13 | c.516A>G (p.Ser172=) c.417A>G (p.Ser139=) | |
| 11 | g.116763073T>G | CA477047268 | BUD13 | c.516A>C (p.Ser172=) c.417A>C (p.Ser139=) | |
| 11 | g.116763074G>A | CA382706068 | BUD13 | c.515C>T (p.Ser172Leu) c.416C>T (p.Ser139Leu) | gnomAD v4 |
| 11 | g.116763074G>C | CA382706071 | BUD13 | c.515C>G (p.Ser172Ter) c.416C>G (p.Ser139Ter) | |
| 11 | g.116763074G>T | CA382706066 | BUD13 | c.515C>A (p.Ser172Ter) c.416C>A (p.Ser139Ter) | |
| 11 | g.116763075A>C | CA382706073 | BUD13 | c.514T>G (p.Ser172Ala) c.415T>G (p.Ser139Ala) | |
| 11 | g.116763075A>G | CA382706075 | BUD13 | c.514T>C (p.Ser172Pro) c.415T>C (p.Ser139Pro) | |
| 11 | g.116763075A>T | CA382706077 | BUD13 | c.514T>A (p.Ser172Thr) c.415T>A (p.Ser139Thr) | |
| 11 | g.116763076G>A | CA477047271 | BUD13 | c.513C>T (p.Asp171=) c.414C>T (p.Asp138=) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.116763076G>C | CA382706079 | BUD13 | c.513C>G (p.Asp171Glu) c.414C>G (p.Asp138Glu) | |
| 11 | g.116763076G= | CA2002726661 | BUD13 | c.513C= (p.Asp171=) c.414C= (p.Asp138=) | |
| 11 | g.116763076G>T | CA382706081 | BUD13 | c.513C>A (p.Asp171Glu) c.414C>A (p.Asp138Glu) | |
| 11 | g.116763077T>A | CA382706089 | BUD13 | c.512A>T (p.Asp171Val) c.413A>T (p.Asp138Val) | |
| 11 | g.116763077T>C | CA382706085 | BUD13 | c.512A>G (p.Asp171Gly) c.413A>G (p.Asp138Gly) | |
| 11 | g.116763077T>G | CA382706087 | BUD13 | c.512A>C (p.Asp171Ala) c.413A>C (p.Asp138Ala) | |
| 11 | g.116763078C>A | CA6288253 | BUD13 | c.511G>T (p.Asp171Tyr) c.412G>T (p.Asp138Tyr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116763078C= | CA2002726662 | BUD13 | c.511G= (p.Asp171=) c.412G= (p.Asp138=) | |
| 11 | g.116763078C>G | CA382706093 | BUD13 | c.511G>C (p.Asp171His) c.412G>C (p.Asp138His) | |
| 11 | g.116763078C>T | CA6288254 | BUD13 | c.511G>A (p.Asp171Asn) c.412G>A (p.Asp138Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116763079A>C | CA382706097 | BUD13 | c.510T>G (p.His170Gln) c.411T>G (p.His137Gln) | |
| 11 | g.116763079A>G | CA477047275 | BUD13 | c.510T>C (p.His170=) c.411T>C (p.His137=) | |
| 11 | g.116763079A>T | CA382706099 | BUD13 | c.510T>A (p.His170Gln) c.411T>A (p.His137Gln) | |
| 11 | g.116763080T>A | CA382706106 | BUD13 | c.509A>T (p.His170Leu) c.410A>T (p.His137Leu) | |
| 11 | g.116763080T>C | CA6288255 | BUD13 | c.509A>G (p.His170Arg) c.410A>G (p.His137Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116763080T>G | CA382706103 | BUD13 | c.509A>C (p.His170Pro) c.410A>C (p.His137Pro) | |
| 11 | g.116763080T= | CA2002726663 | BUD13 | c.509A= (p.His170=) c.410A= (p.His137=) | |
| 11 | g.116763081G>A | CA382706109 | BUD13 | c.508C>T (p.His170Tyr) c.409C>T (p.His137Tyr) | |
| 11 | g.116763081G>C | CA382706113 | BUD13 | c.508C>G (p.His170Asp) c.409C>G (p.His137Asp) | |
| 11 | g.116763081G>T | CA382706111 | BUD13 | c.508C>A (p.His170Asn) c.409C>A (p.His137Asn) | |
| 11 | g.116763082A>C | CA477047278 | BUD13 | c.507T>G (p.Arg169=) c.408T>G (p.Arg136=) | gnomAD v4 |
| 11 | g.116763082A>G | CA477047279 | BUD13 | c.507T>C (p.Arg169=) c.408T>C (p.Arg136=) | |
| 11 | g.116763082A>T | CA477047281 | BUD13 | c.507T>A (p.Arg169=) c.408T>A (p.Arg136=) | |
| 11 | g.116763083C>A | CA382706116 | BUD13 | c.506G>T (p.Arg169Leu) c.407G>T (p.Arg136Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.116763083C= | CA2002726664 | BUD13 | c.506G= (p.Arg169=) c.407G= (p.Arg136=) | |
| 11 | g.116763083C>G | CA382706118 | BUD13 | c.506G>C (p.Arg169Pro) c.407G>C (p.Arg136Pro) | |
| 11 | g.116763083C>T | CA6288256 | BUD13 | c.506G>A (p.Arg169His) c.407G>A (p.Arg136His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116763084G>A | CA6288257 | BUD13 | c.505C>T (p.Arg169Cys) c.406C>T (p.Arg136Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.116763084G>C | CA382706122 | BUD13 | c.505C>G (p.Arg169Gly) c.406C>G (p.Arg136Gly) | |
| 11 | g.116763084G= | CA2002726665 | BUD13 | c.505C= (p.Arg169=) c.406C= (p.Arg136=) | |
| 11 | g.116763084G>T | CA382706124 | BUD13 | c.505C>A (p.Arg169Ser) c.406C>A (p.Arg136Ser) | |
| 11 | g.116763085A>C | CA477047284 | BUD13 | c.504T>G (p.Ala168=) c.405T>G (p.Ala135=) | |
| 11 | g.116763085A>G | CA477047286 | BUD13 | c.504T>C (p.Ala168=) c.405T>C (p.Ala135=) | |
| 11 | g.116763085A>T | CA477047285 | BUD13 | c.504T>A (p.Ala168=) c.405T>A (p.Ala135=) | |
| 11 | g.116763086G>A | CA6288258 | BUD13 | c.503C>T (p.Ala168Val) c.404C>T (p.Ala135Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.116763086G>C | CA382706126 | BUD13 | c.503C>G (p.Ala168Gly) c.404C>G (p.Ala135Gly) | |
| 11 | g.116763086G= | CA2002726666 | BUD13 | c.503C= (p.Ala168=) c.404C= (p.Ala135=) | |
| 11 | g.116763086G>T | CA382706127 | BUD13 | c.503C>A (p.Ala168Asp) c.404C>A (p.Ala135Asp) | |
| 11 | g.116763090_116763128del | CA2793763516 | BUD13 | c.465_503del (p.Arg156_Ala168del) c.366_404del (p.Arg123_Ala135del) | |
| 11 | g.116763087C>A | CA382706130 | BUD13 | c.502G>T (p.Ala168Ser) c.403G>T (p.Ala135Ser) | |
| 11 | g.116763087C= | CA2002726667 | BUD13 | c.502G= (p.Ala168=) c.403G= (p.Ala135=) | |
| 11 | g.116763087C>G | CA382706132 | BUD13 | c.502G>C (p.Ala168Pro) c.403G>C (p.Ala135Pro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116763087C>T | CA382706133 | BUD13 | c.502G>A (p.Ala168Thr) c.403G>A (p.Ala135Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.116763090del | CA2616113597 | BUD13 | c.502del (p.Ala168LeufsTer?) c.403del (p.Ala135LeufsTer?) | gnomAD v4 |
| 11 | g.116763088C>A | CA477047288 | BUD13 | c.501G>T (p.Gly167=) c.402G>T (p.Gly134=) | |
| 11 | g.116763088C= | CA2002726668 | BUD13 | c.501G= (p.Gly167=) c.402G= (p.Gly134=) | |
| 11 | g.116763088C>G | CA477047289 | BUD13 | c.501G>C (p.Gly167=) c.402G>C (p.Gly134=) | gnomAD v4 |
| 11 | g.116763088C>T | CA477047290 | BUD13 | c.501G>A (p.Gly167=) c.402G>A (p.Gly134=) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.116763089C>A | CA382706134 | BUD13 | c.500G>T (p.Gly167Val) c.401G>T (p.Gly134Val) | |
| 11 | g.116763089C>G | CA382706135 | BUD13 | c.500G>C (p.Gly167Ala) c.401G>C (p.Gly134Ala) | |
| 11 | g.116763089C>T | CA382706136 | BUD13 | c.500G>A (p.Gly167Glu) c.401G>A (p.Gly134Glu) | |
| 11 | g.116763090C>A | CA382706139 | BUD13 | c.499G>T (p.Gly167Trp) c.400G>T (p.Gly134Trp) | |
| 11 | g.116763090C>G | CA382706138 | BUD13 | c.499G>C (p.Gly167Arg) c.400G>C (p.Gly134Arg) | |
| 11 | g.116763090C>T | CA382706137 | BUD13 | c.499G>A (p.Gly167Arg) c.400G>A (p.Gly134Arg) | gnomAD v4 |
| 11 | g.116763091T>A | CA382706140 | BUD13 | c.498A>T (p.Arg166Ser) c.399A>T (p.Arg133Ser) | |
| 11 | g.116763091T>C | CA477047294 | BUD13 | c.498A>G (p.Arg166=) c.399A>G (p.Arg133=) | |
| 11 | g.116763091T>G | CA382706141 | BUD13 | c.498A>C (p.Arg166Ser) c.399A>C (p.Arg133Ser) | |
| 11 | g.116763092C>A | CA382706142 | BUD13 | c.497G>T (p.Arg166Ile) c.398G>T (p.Arg133Ile) | |
| 11 | g.116763092C>G | CA382706143 | BUD13 | c.497G>C (p.Arg166Thr) c.398G>C (p.Arg133Thr) | |
| 11 | g.116763092C>T | CA382706144 | BUD13 | c.497G>A (p.Arg166Lys) c.398G>A (p.Arg133Lys) | |
| 11 | g.116763093T>A | CA382706145 | BUD13 | c.496A>T (p.Arg166Ter) c.397A>T (p.Arg133Ter) | |
| 11 | g.116763093T>C | CA382706146 | BUD13 | c.496A>G (p.Arg166Gly) c.397A>G (p.Arg133Gly) | |
| 11 | g.116763093T>G | CA477047298 | BUD13 | c.496A>C (p.Arg166=) c.397A>C (p.Arg133=) | |
| 11 | g.116763094G>A | CA477047299 | BUD13 | c.495C>T (p.Leu165=) c.396C>T (p.Leu132=) | |
| 11 | g.116763094G>C | CA477047300 | BUD13 | c.495C>G (p.Leu165=) c.396C>G (p.Leu132=) | |
| 11 | g.116763094G>T | CA477047301 | BUD13 | c.495C>A (p.Leu165=) c.396C>A (p.Leu132=) | |
| 11 | g.116763095A>C | CA382706147 | BUD13 | c.494T>G (p.Leu165Arg) c.395T>G (p.Leu132Arg) | |
| 11 | g.116763095A>G | CA382706148 | BUD13 | c.494T>C (p.Leu165Pro) c.395T>C (p.Leu132Pro) | |
| 11 | g.116763095A>T | CA382706149 | BUD13 | c.494T>A (p.Leu165His) c.395T>A (p.Leu132His) | |
| 11 | g.116763096G>A | CA382706150 | BUD13 | c.493C>T (p.Leu165Phe) c.394C>T (p.Leu132Phe) | gnomAD v4 |
| 11 | g.116763096G>C | CA382706151 | BUD13 | c.493C>G (p.Leu165Val) c.394C>G (p.Leu132Val) | |
| 11 | g.116763096G>T | CA382706152 | BUD13 | c.493C>A (p.Leu165Ile) c.394C>A (p.Leu132Ile) | |
| 11 | g.116763097G>A | CA477047303 | BUD13 | c.492C>T (p.Pro164=) c.393C>T (p.Pro131=) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.116763097G>C | CA477047305 | BUD13 | c.492C>G (p.Pro164=) c.393C>G (p.Pro131=) | gnomAD v4 |
| 11 | g.116763097G= | CA2002726669 | BUD13 | c.492C= (p.Pro164=) c.393C= (p.Pro131=) | |
| 11 | g.116763097G>T | CA477047304 | BUD13 | c.492C>A (p.Pro164=) c.393C>A (p.Pro131=) | COSMIC |
| 11 | g.116763098G>A | CA382706154 | BUD13 | c.491C>T (p.Pro164Leu) c.392C>T (p.Pro131Leu) | gnomAD v4 |
| 11 | g.116763098G>C | CA229310413 | BUD13 | c.491C>G (p.Pro164Arg) c.392C>G (p.Pro131Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.116763098G= | CA2002726670 | BUD13 | c.491C= (p.Pro164=) c.392C= (p.Pro131=) | |
| 11 | g.116763098G>T | CA382706153 | BUD13 | c.491C>A (p.Pro164His) c.392C>A (p.Pro131His) | gnomAD v4 |
| 11 | g.116763099G>A | CA6288259 | BUD13 | c.490C>T (p.Pro164Ser) c.391C>T (p.Pro131Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.116763099G>C | CA382706155 | BUD13 | c.490C>G (p.Pro164Ala) c.391C>G (p.Pro131Ala) | |
| 11 | g.116763099G= | CA2002726672 | BUD13 | c.490C= (p.Pro164=) c.391C= (p.Pro131=) | |
| 11 | g.116763099G>T | CA382706156 | BUD13 | c.490C>A (p.Pro164Thr) c.391C>A (p.Pro131Thr) | |
| 11 | g.116763101_116763102dup | CA2002726671 | BUD13 | c.489_490dup (p.Pro164LeufsTer?) c.390_391dup (p.Pro131LeufsTer?) | dbSNP gnomAD v4 |
| 11 | g.116763100A>C | CA477047307 | BUD13 | c.489T>G (p.Ser163=) c.390T>G (p.Ser130=) | |
| 11 | g.116763100A>G | CA477047309 | BUD13 | c.489T>C (p.Ser163=) c.390T>C (p.Ser130=) | |
| 11 | g.116763100A>T | CA477047308 | BUD13 | c.489T>A (p.Ser163=) c.390T>A (p.Ser130=) | |
| 11 | g.116763101G>A | CA382706157 | BUD13 | c.488C>T (p.Ser163Phe) c.389C>T (p.Ser130Phe) | |
| 11 | g.116763101G>C | CA382706158 | BUD13 | c.488C>G (p.Ser163Cys) c.389C>G (p.Ser130Cys) | |
| 11 | g.116763101G>T | CA382706159 | BUD13 | c.488C>A (p.Ser163Tyr) c.389C>A (p.Ser130Tyr) | |
| 11 | g.116763102A= | CA2002726673 | BUD13 | c.487T= (p.Ser163=) c.388T= (p.Ser130=) | |
| 11 | g.116763102A>C | CA382706160 | BUD13 | c.487T>G (p.Ser163Ala) c.388T>G (p.Ser130Ala) | |
| 11 | g.116763102A>G | CA382706161 | BUD13 | c.487T>C (p.Ser163Pro) c.388T>C (p.Ser130Pro) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.116763102A>T | CA382706162 | BUD13 | c.487T>A (p.Ser163Thr) c.388T>A (p.Ser130Thr) | |
| 11 | g.116763103A= | CA2002726674 | BUD13 | c.486T= (p.Pro162=) c.387T= (p.Pro129=) | |
| 11 | g.116763103A>C | CA477047311 | BUD13 | c.486T>G (p.Pro162=) c.387T>G (p.Pro129=) | |
| 11 | g.116763103A>G | CA477047312 | BUD13 | c.486T>C (p.Pro162=) c.387T>C (p.Pro129=) | |
| 11 | g.116763103A>T | CA477047313 | BUD13 | c.486T>A (p.Pro162=) c.387T>A (p.Pro129=) | dbSNP |
| 11 | g.116763103_116763175delinsAGGATCCGGGGTGTCATGACGGGCCCTCCTAGGAGATGGATCCGGGGTGTCATGACGGTCCTTCCTAGGAGAT | CA2002726675 | BUD13 | c.414_486delinsATCTCCTAGGAAGGACCGTCATGACACCCCGGATCCATCTCCTAGGAGGGCCCGTCATGACACCCCGGATCCT (p.Pro138=) c.315_387delinsATCTCCTAGGAAGGACCGTCATGACACCCCGGATCCATCTCCTAGGAGGGCCCGTCATGACACCCCGGATCCT (p.Pro105=) | |
| 11 | g.116763104G>A | CA382706163 | BUD13 | c.485C>T (p.Pro162Leu) c.386C>T (p.Pro129Leu) | gnomAD v4 |
| 11 | g.116763104G>C | CA382706164 | BUD13 | c.485C>G (p.Pro162Arg) c.386C>G (p.Pro129Arg) | |
| 11 | g.116763104G>T | CA382706165 | BUD13 | c.485C>A (p.Pro162His) c.386C>A (p.Pro129His) | |
| 11 | g.116763108_116763109insTGGGGTGTCATGACGGGCCCTCCTAGGAGATGGATC | CA2616113598 | BUD13 | c.485_486insATCTCCTAGGAGGGCCCGTCATGACACCCCAGATCC (p.Pro162_Ser163insSerProArgArgAlaArgHisAspThrProAspPro) c.386_387insATCTCCTAGGAGGGCCCGTCATGACACCCCAGATCC (p.Pro129_Ser130insSerProArgArgAlaArgHisAspThrProAspPro) | gnomAD v4 |
| 11 | g.116763125_116763160dup | CA6288260 | BUD13 | c.450_485dup (p.Pro162_Ser163insSerProArgArgAlaArgHisAspThrProAspPro) c.351_386dup (p.Pro129_Ser130insSerProArgArgAlaArgHisAspThrProAspPro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116763125_116763160del | CA2616113599 | BUD13 | c.450_485del (p.Ser151_Pro162del) c.351_386del (p.Ser118_Pro129del) | gnomAD v4 |
| 11 | g.116763109_116763180del | CA942599924 | BUD13 | c.414_485del (p.Ser139_Pro162del) c.315_386del (p.Ser106_Pro129del) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.116763105G>A | CA382706166 | BUD13 | c.484C>T (p.Pro162Ser) c.385C>T (p.Pro129Ser) | COSMIC |
| 11 | g.116763105G>C | CA382706168 | BUD13 | c.484C>G (p.Pro162Ala) c.385C>G (p.Pro129Ala) | |
| 11 | g.116763105G>T | CA382706167 | BUD13 | c.484C>A (p.Pro162Thr) c.385C>A (p.Pro129Thr) | |
| 11 | g.116763106A= | CA2002726676 | BUD13 | c.483T= (p.Asp161=) c.384T= (p.Asp128=) | |
| 11 | g.116763106A>C | CA6288261 | BUD13 | c.483T>G (p.Asp161Glu) c.384T>G (p.Asp128Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.116763106A>G | CA477047315 | BUD13 | c.483T>C (p.Asp161=) c.384T>C (p.Asp128=) | |
| 11 | g.116763106A>T | CA382706169 | BUD13 | c.483T>A (p.Asp161Glu) c.384T>A (p.Asp128Glu) | |
| 11 | g.116763107T>A | CA382706170 | BUD13 | c.482A>T (p.Asp161Val) c.383A>T (p.Asp128Val) | |
| 11 | g.116763107T>C | CA382706171 | BUD13 | c.482A>G (p.Asp161Gly) c.383A>G (p.Asp128Gly) | |
| 11 | g.116763107T>G | CA382706172 | BUD13 | c.482A>C (p.Asp161Ala) c.383A>C (p.Asp128Ala) | |
| 11 | g.116763108C>A | CA382706173 | BUD13 | c.481G>T (p.Asp161Tyr) c.382G>T (p.Asp128Tyr) | |
| 11 | g.116763108C>G | CA382706175 | BUD13 | c.481G>C (p.Asp161His) c.382G>C (p.Asp128His) | |
| 11 | g.116763108C>T | CA382706176 | BUD13 | c.481G>A (p.Asp161Asn) c.382G>A (p.Asp128Asn) | |
| 11 | g.116763109C>A | CA477047316 | BUD13 | c.480G>T (p.Pro160=) c.381G>T (p.Pro127=) | dbSNP |
| 11 | g.116763109C= | CA2002726677 | BUD13 | c.480G= (p.Pro160=) c.381G= (p.Pro127=) | |
| 11 | g.116763109C>G | CA477047317 | BUD13 | c.480G>C (p.Pro160=) c.381G>C (p.Pro127=) | |
| 11 | g.116763109C>T | CA6288262 | BUD13 | c.480G>A (p.Pro160=) c.381G>A (p.Pro127=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116763109_116763113del | CA942599932 | BUD13 | c.476_480del (p.Thr159ArgfsTer11) c.377_381del (p.Thr126ArgfsTer11) | gnomAD v3 gnomAD v4 |
| 11 | g.116763110G>A | CA6288263 | BUD13 | c.479C>T (p.Pro160Leu) c.380C>T (p.Pro127Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116763110G>C | CA382706183 | BUD13 | c.479C>G (p.Pro160Arg) c.380C>G (p.Pro127Arg) | |
| 11 | g.116763110G= | CA2002726678 | BUD13 | c.479C= (p.Pro160=) c.380C= (p.Pro127=) | |
| 11 | g.116763110G>T | CA382706181 | BUD13 | c.479C>A (p.Pro160Gln) c.380C>A (p.Pro127Gln) | |
| 11 | g.116763111G>A | CA382706186 | BUD13 | c.478C>T (p.Pro160Ser) c.379C>T (p.Pro127Ser) | |
| 11 | g.116763111G>C | CA382706188 | BUD13 | c.478C>G (p.Pro160Ala) c.379C>G (p.Pro127Ala) | |
| 11 | g.116763111G>T | CA382706189 | BUD13 | c.478C>A (p.Pro160Thr) c.379C>A (p.Pro127Thr) | |
| 11 | g.116763112G>A | CA477047318 | BUD13 | c.477C>T (p.Thr159=) c.378C>T (p.Thr126=) | gnomAD v4 |
| 11 | g.116763112G>C | CA477047319 | BUD13 | c.477C>G (p.Thr159=) c.378C>G (p.Thr126=) | |
| 11 | g.116763112G>T | CA477047320 | BUD13 | c.477C>A (p.Thr159=) c.378C>A (p.Thr126=) | |
| 11 | g.116763113G>A | CA382706190 | BUD13 | c.476C>T (p.Thr159Ile) c.377C>T (p.Thr126Ile) | dbSNP gnomAD v4 |
| 11 | g.116763113G>C | CA382706192 | BUD13 | c.476C>G (p.Thr159Ser) c.377C>G (p.Thr126Ser) | gnomAD v4 |
| 11 | g.116763113G= | CA2002726679 | BUD13 | c.476C= (p.Thr159=) c.377C= (p.Thr126=) | |
| 11 | g.116763113G>T | CA382706193 | BUD13 | c.476C>A (p.Thr159Asn) c.377C>A (p.Thr126Asn) | |
| 11 | g.116763114T>A | CA382706198 | BUD13 | c.475A>T (p.Thr159Ser) c.376A>T (p.Thr126Ser) | |
| 11 | g.116763114T>C | CA382706194 | BUD13 | c.475A>G (p.Thr159Ala) c.376A>G (p.Thr126Ala) | dbSNP gnomAD v4 |
| 11 | g.116763114T>G | CA382706196 | BUD13 | c.475A>C (p.Thr159Pro) c.376A>C (p.Thr126Pro) | |
| 11 | g.116763114T= | CA2002726680 | BUD13 | c.475A= (p.Thr159=) c.376A= (p.Thr126=) | |
| 11 | g.116763115G>A | CA477046605 | BUD13 | c.474C>T (p.Asp158=) c.375C>T (p.Asp125=) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.116763115G>C | CA382706200 | BUD13 | c.474C>G (p.Asp158Glu) c.375C>G (p.Asp125Glu) | |
| 11 | g.116763115G= | CA2002726681 | BUD13 | c.474C= (p.Asp158=) c.375C= (p.Asp125=) | |
| 11 | g.116763115G>T | CA382706202 | BUD13 | c.474C>A (p.Asp158Glu) c.375C>A (p.Asp125Glu) | |
| 11 | g.116763116_116763146del | CA942599936 | BUD13 | c.444_474del (p.Asp149ProfsTer?) c.345_375del (p.Asp116ProfsTer?) | gnomAD v3 gnomAD v4 |
| 11 | g.116763116T>A | CA382706204 | BUD13 | c.473A>T (p.Asp158Val) c.374A>T (p.Asp125Val) | |
| 11 | g.116763116T>C | CA382706206 | BUD13 | c.473A>G (p.Asp158Gly) c.374A>G (p.Asp125Gly) | dbSNP |
| 11 | g.116763116T>G | CA382706208 | BUD13 | c.473A>C (p.Asp158Ala) c.374A>C (p.Asp125Ala) | |
| 11 | g.116763116T= | CA2002726682 | BUD13 | c.473A= (p.Asp158=) c.374A= (p.Asp125=) | |
| 11 | g.116763117C>A | CA382706212 | BUD13 | c.472G>T (p.Asp158Tyr) c.373G>T (p.Asp125Tyr) | gnomAD v4 |
| 11 | g.116763117C>G | CA382706210 | BUD13 | c.472G>C (p.Asp158His) c.373G>C (p.Asp125His) | |
| 11 | g.116763117C>T | CA382706211 | BUD13 | c.472G>A (p.Asp158Asn) c.373G>A (p.Asp125Asn) | |
| 11 | g.116763125_116763196del | CA942599940 | BUD13 | c.401_472del (p.Gly134_His157del) c.302_373del (p.Gly101_His124del) | gnomAD v3 gnomAD v4 |
| 11 | g.116763118A= | CA2002726683 | BUD13 | c.471T= (p.His157=) c.372T= (p.His124=) | |
| 11 | g.116763118A>C | CA382706215 | BUD13 | c.471T>G (p.His157Gln) c.372T>G (p.His124Gln) | |
| 11 | g.116763118A>G | CA229310447 | BUD13 | c.471T>C (p.His157=) c.372T>C (p.His124=) | dbSNP |
| 11 | g.116763118A>T | CA382706219 | BUD13 | c.471T>A (p.His157Gln) c.372T>A (p.His124Gln) | |
| 11 | g.116763119T>A | CA382706222 | BUD13 | c.470A>T (p.His157Leu) c.371A>T (p.His124Leu) | |
| 11 | g.116763119T>C | CA6288264 | BUD13 | c.470A>G (p.His157Arg) c.371A>G (p.His124Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.116763119T>G | CA382706225 | BUD13 | c.470A>C (p.His157Pro) c.371A>C (p.His124Pro) | |
| 11 | g.116763119T= | CA2002726684 | BUD13 | c.470A= (p.His157=) c.371A= (p.His124=) | |
| 11 | g.116763120G>A | CA382706228 | BUD13 | c.469C>T (p.His157Tyr) c.370C>T (p.His124Tyr) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.116763120G>C | CA382706230 | BUD13 | c.469C>G (p.His157Asp) c.370C>G (p.His124Asp) | |
| 11 | g.116763120G= | CA2002726685 | BUD13 | c.469C= (p.His157=) c.370C= (p.His124=) | |
| 11 | g.116763120G>T | CA382706232 | BUD13 | c.469C>A (p.His157Asn) c.370C>A (p.His124Asn) | |
| 11 | g.116763121A>C | CA477046606 | BUD13 | c.468T>G (p.Arg156=) c.369T>G (p.Arg123=) | |
| 11 | g.116763121A>G | CA477046607 | BUD13 | c.468T>C (p.Arg156=) c.369T>C (p.Arg123=) | |
| 11 | g.116763121A>T | CA477046608 | BUD13 | c.468T>A (p.Arg156=) c.369T>A (p.Arg123=) | |
| 11 | g.116763122C>A | CA6288266 | BUD13 | c.467G>T (p.Arg156Leu) c.368G>T (p.Arg123Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116763122C= | CA2002726686 | BUD13 | c.467G= (p.Arg156=) c.368G= (p.Arg123=) | |
| 11 | g.116763122C>G | CA382706235 | BUD13 | c.467G>C (p.Arg156Pro) c.368G>C (p.Arg123Pro) | gnomAD v4 COSMIC |
| 11 | g.116763122C>T | CA6288265 | BUD13 | c.467G>A (p.Arg156His) c.368G>A (p.Arg123His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116763123G>A | CA6288267 | BUD13 | c.466C>T (p.Arg156Cys) c.367C>T (p.Arg123Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116763123G>C | CA382706242 | BUD13 | c.466C>G (p.Arg156Gly) c.367C>G (p.Arg123Gly) | |
| 11 | g.116763123G= | CA2002726687 | BUD13 | c.466C= (p.Arg156=) c.367C= (p.Arg123=) | |
| 11 | g.116763123G>T | CA382706240 | BUD13 | c.466C>A (p.Arg156Ser) c.367C>A (p.Arg123Ser) | |
| 11 | g.116763124G>A | CA477046609 | BUD13 | c.465C>T (p.Ala155=) c.366C>T (p.Ala122=) | |
| 11 | g.116763124G>C | CA477046610 | BUD13 | c.465C>G (p.Ala155=) c.366C>G (p.Ala122=) | |
| 11 | g.116763124G>T | CA477046611 | BUD13 | c.465C>A (p.Ala155=) c.366C>A (p.Ala122=) | |
| 11 | g.116763125G>A | CA6288268 | BUD13 | c.464C>T (p.Ala155Val) c.365C>T (p.Ala122Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116763125G>C | CA382706246 | BUD13 | c.464C>G (p.Ala155Gly) c.365C>G (p.Ala122Gly) | |
| 11 | g.116763125G= | CA2002726688 | BUD13 | c.464C= (p.Ala155=) c.365C= (p.Ala122=) | |
| 11 | g.116763125G>T | CA229310479 | BUD13 | c.464C>A (p.Ala155Asp) c.365C>A (p.Ala122Asp) | dbSNP gnomAD v4 |
| 11 | g.116763126C>A | CA382706250 | BUD13 | c.463G>T (p.Ala155Ser) c.364G>T (p.Ala122Ser) | gnomAD v4 |
| 11 | g.116763126C= | CA2002726689 | BUD13 | c.463G= (p.Ala155=) c.364G= (p.Ala122=) | |
| 11 | g.116763126C>G | CA382706253 | BUD13 | c.463G>C (p.Ala155Pro) c.364G>C (p.Ala122Pro) | |
| 11 | g.116763126C>T | CA382706255 | BUD13 | c.463G>A (p.Ala155Thr) c.364G>A (p.Ala122Thr) | dbSNP gnomAD v4 |
| 11 | g.116763128del | CA2793763517 | BUD13 | c.463del (p.Ala155ProfsTer?) c.364del (p.Ala122ProfsTer?) | |
| 11 | g.116763141_116763212del | CA942599954 | BUD13 | c.392_463del (p.Val131_Arg154del) c.293_364del (p.Val98_Arg121del) | gnomAD v3 gnomAD v4 |
| 11 | g.116763127C>A | CA382706257 | BUD13 | c.462G>T (p.Arg154Ser) c.363G>T (p.Arg121Ser) | |
| 11 | g.116763127C= | CA2002726690 | BUD13 | c.462G= (p.Arg154=) c.363G= (p.Arg121=) | |
| 11 | g.116763127C>G | CA382706260 | BUD13 | c.462G>C (p.Arg154Ser) c.363G>C (p.Arg121Ser) | |
| 11 | g.116763127C>T | CA229310485 | BUD13 | c.462G>A (p.Arg154=) c.363G>A (p.Arg121=) | dbSNP gnomAD v4 |
| 11 | g.116763128C>A | CA382706262 | BUD13 | c.461G>T (p.Arg154Met) c.362G>T (p.Arg121Met) | |
| 11 | g.116763128C>G | CA382706265 | BUD13 | c.461G>C (p.Arg154Thr) c.362G>C (p.Arg121Thr) | |
| 11 | g.116763128C>T | CA382706268 | BUD13 | c.461G>A (p.Arg154Lys) c.362G>A (p.Arg121Lys) | gnomAD v4 |
| 11 | g.116763128_116763164delinsCTCCTAGGAGATGGATCCGGGGTGTCATGACGGTCCT | CA2002726691 | BUD13 | c.425_461delinsAGGACCGTCATGACACCCCGGATCCATCTCCTAGGAG (p.Lys142=) c.326_362delinsAGGACCGTCATGACACCCCGGATCCATCTCCTAGGAG (p.Lys109=) | |
| 11 | g.116763129T>A | CA382706271 | BUD13 | c.460A>T (p.Arg154Trp) c.361A>T (p.Arg121Trp) | |
| 11 | g.116763129T>C | CA382706272 | BUD13 | c.460A>G (p.Arg154Gly) c.361A>G (p.Arg121Gly) | |
| 11 | g.116763129T>G | CA477046612 | BUD13 | c.460A>C (p.Arg154=) c.361A>C (p.Arg121=) | |
| 11 | g.116763145_116763180del | CA602136277 | BUD13 | c.425_460del (p.Lys142_Arg153del) c.326_361del (p.Lys109_Arg120del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116763130C>A | CA382706275 | BUD13 | c.459G>T (p.Arg153Ser) c.360G>T (p.Arg120Ser) | |
| 11 | g.116763130C>G | CA382706276 | BUD13 | c.459G>C (p.Arg153Ser) c.360G>C (p.Arg120Ser) | |
| 11 | g.116763130C>T | CA477046614 | BUD13 | c.459G>A (p.Arg153=) c.360G>A (p.Arg120=) | |
| 11 | g.116763131C>A | CA382706279 | BUD13 | c.458G>T (p.Arg153Met) c.359G>T (p.Arg120Met) | |
| 11 | g.116763131C>G | CA382706280 | BUD13 | c.458G>C (p.Arg153Thr) c.359G>C (p.Arg120Thr) | |
| 11 | g.116763131C>T | CA382706282 | BUD13 | c.458G>A (p.Arg153Lys) c.359G>A (p.Arg120Lys) | gnomAD v4 |
| 11 | g.116763132T>A | CA382706285 | BUD13 | c.457A>T (p.Arg153Trp) c.358A>T (p.Arg120Trp) | |
| 11 | g.116763132T>C | CA382706287 | BUD13 | c.457A>G (p.Arg153Gly) c.358A>G (p.Arg120Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.116763132T>G | CA477046616 | BUD13 | c.457A>C (p.Arg153=) c.358A>C (p.Arg120=) | |
| 11 | g.116763132T= | CA2002726693 | BUD13 | c.457A= (p.Arg153=) c.358A= (p.Arg120=) | |
| 11 | g.116763132_116763135delinsTAGG | CA2002726692 | BUD13 | c.454_457delinsCCTA (p.Pro152=) c.355_358delinsCCTA (p.Pro119=) | |
| 11 | g.116763133A>C | CA477046619 | BUD13 | c.456T>G (p.Pro152=) c.357T>G (p.Pro119=) | |
| 11 | g.116763133A>G | CA477046620 | BUD13 | c.456T>C (p.Pro152=) c.357T>C (p.Pro119=) | |
| 11 | g.116763133A>T | CA477046621 | BUD13 | c.456T>A (p.Pro152=) c.357T>A (p.Pro119=) | |
| 11 | g.116763135_116763137del | CA6288269 | BUD13 | c.454_456del (p.Pro152del) c.355_357del (p.Pro119del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116763134G>A | CA382706289 | BUD13 | c.455C>T (p.Pro152Leu) c.356C>T (p.Pro119Leu) | |
| 11 | g.116763134G>C | CA382706291 | BUD13 | c.455C>G (p.Pro152Arg) c.356C>G (p.Pro119Arg) | |
| 11 | g.116763134G>T | CA382706293 | BUD13 | c.455C>A (p.Pro152His) c.356C>A (p.Pro119His) | |
| 11 | g.116763135G>A | CA382706296 | BUD13 | c.454C>T (p.Pro152Ser) c.355C>T (p.Pro119Ser) | |
| 11 | g.116763135G>C | CA382706298 | BUD13 | c.454C>G (p.Pro152Ala) c.355C>G (p.Pro119Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.116763135G= | CA2002726694 | BUD13 | c.454C= (p.Pro152=) c.355C= (p.Pro119=) | |
| 11 | g.116763135G>T | CA382706300 | BUD13 | c.454C>A (p.Pro152Thr) c.355C>A (p.Pro119Thr) | |
| 11 | g.116763136A= | CA2002726695 | BUD13 | c.453T= (p.Ser151=) c.354T= (p.Ser118=) | |
| 11 | g.116763136A>C | CA477046626 | BUD13 | c.453T>G (p.Ser151=) c.354T>G (p.Ser118=) | |
| 11 | g.116763136A>G | CA477046627 | BUD13 | c.453T>C (p.Ser151=) c.354T>C (p.Ser118=) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.116763136A>T | CA477046628 | BUD13 | c.453T>A (p.Ser151=) c.354T>A (p.Ser118=) | |
| 11 | g.116763137G>A | CA382706305 | BUD13 | c.452C>T (p.Ser151Phe) c.353C>T (p.Ser118Phe) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.116763137G>C | CA382706307 | BUD13 | c.452C>G (p.Ser151Cys) c.353C>G (p.Ser118Cys) | |
| 11 | g.116763137G= | CA2002726696 | BUD13 | c.452C= (p.Ser151=) c.353C= (p.Ser118=) | |
| 11 | g.116763137G>T | CA382706303 | BUD13 | c.452C>A (p.Ser151Tyr) c.353C>A (p.Ser118Tyr) | |
| 11 | g.116763138A>C | CA382706312 | BUD13 | c.451T>G (p.Ser151Ala) c.352T>G (p.Ser118Ala) | |
| 11 | g.116763138A>G | CA382706310 | BUD13 | c.451T>C (p.Ser151Pro) c.352T>C (p.Ser118Pro) | |
| 11 | g.116763138A>T | CA382706314 | BUD13 | c.451T>A (p.Ser151Thr) c.352T>A (p.Ser118Thr) | |
| 11 | g.116763139T>A | CA477046630 | BUD13 | c.450A>T (p.Pro150=) c.351A>T (p.Pro117=) | |
| 11 | g.116763139T>C | CA477046631 | BUD13 | c.450A>G (p.Pro150=) c.351A>G (p.Pro117=) | gnomAD v4 |
| 11 | g.116763139T>G | CA477046629 | BUD13 | c.450A>C (p.Pro150=) c.351A>C (p.Pro117=) | |
| 11 | g.116763140G>A | CA382706317 | BUD13 | c.449C>T (p.Pro150Leu) c.350C>T (p.Pro117Leu) | |
| 11 | g.116763140G>C | CA382706319 | BUD13 | c.449C>G (p.Pro150Arg) c.350C>G (p.Pro117Arg) | |
| 11 | g.116763140G>T | CA382706321 | BUD13 | c.449C>A (p.Pro150Gln) c.350C>A (p.Pro117Gln) | |
| 11 | g.116763141G>A | CA229310490 | BUD13 | c.448C>T (p.Pro150Ser) c.349C>T (p.Pro117Ser) | dbSNP gnomAD v4 |
| 11 | g.116763141G>C | CA382706324 | BUD13 | c.448C>G (p.Pro150Ala) c.349C>G (p.Pro117Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.116763141G= | CA2002726697 | BUD13 | c.448C= (p.Pro150=) c.349C= (p.Pro117=) | |
| 11 | g.116763141G>T | CA382706327 | BUD13 | c.448C>A (p.Pro150Thr) c.349C>A (p.Pro117Thr) | |
| 11 | g.116763142A>C | CA382706329 | BUD13 | c.447T>G (p.Asp149Glu) c.348T>G (p.Asp116Glu) | |
| 11 | g.116763142A>G | CA477046633 | BUD13 | c.447T>C (p.Asp149=) c.348T>C (p.Asp116=) | |
| 11 | g.116763142A>T | CA382706331 | BUD13 | c.447T>A (p.Asp149Glu) c.348T>A (p.Asp116Glu) | |
| 11 | g.116763143T>A | CA382706335 | BUD13 | c.446A>T (p.Asp149Val) c.347A>T (p.Asp116Val) | |
| 11 | g.116763143T>C | CA382706337 | BUD13 | c.446A>G (p.Asp149Gly) c.347A>G (p.Asp116Gly) | |
| 11 | g.116763143T>G | CA382706338 | BUD13 | c.446A>C (p.Asp149Ala) c.347A>C (p.Asp116Ala) | |
| 11 | g.116763144C>A | CA382706346 | BUD13 | c.445G>T (p.Asp149Tyr) c.346G>T (p.Asp116Tyr) | |
| 11 | g.116763144C>G | CA382706343 | BUD13 | c.445G>C (p.Asp149His) c.346G>C (p.Asp116His) | |
| 11 | g.116763144C>T | CA382706342 | BUD13 | c.445G>A (p.Asp149Asn) c.346G>A (p.Asp116Asn) | |
| 11 | g.116763145C>A | CA477046637 | BUD13 | c.444G>T (p.Pro148=) c.345G>T (p.Pro115=) | |
| 11 | g.116763145C= | CA2002726698 | BUD13 | c.444G= (p.Pro148=) c.345G= (p.Pro115=) | |
| 11 | g.116763145C>G | CA477046640 | BUD13 | c.444G>C (p.Pro148=) c.345G>C (p.Pro115=) | |
| 11 | g.116763145C>T | CA6288270 | BUD13 | c.444G>A (p.Pro148=) c.345G>A (p.Pro115=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116763145_116763181delinsCGGGGTGTCATGACGGTCCTTCCTAGGAGATGGATCT | CA2002726699 | BUD13 | c.408_444delinsAGATCCATCTCCTAGGAAGGACCGTCATGACACCCCG (p.Pro136=) c.309_345delinsAGATCCATCTCCTAGGAAGGACCGTCATGACACCCCG (p.Pro103=) | |
| 11 | g.116763146G>A | CA6288271 | BUD13 | c.443C>T (p.Pro148Leu) c.344C>T (p.Pro115Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116763146G>C | CA382706352 | BUD13 | c.443C>G (p.Pro148Arg) c.344C>G (p.Pro115Arg) | |
| 11 | g.116763146G= | CA2002726700 | BUD13 | c.443C= (p.Pro148=) c.344C= (p.Pro115=) | |
| 11 | g.116763146G>T | CA382706354 | BUD13 | c.443C>A (p.Pro148Gln) c.344C>A (p.Pro115Gln) | |
| 11 | g.116763151_116763186del | CA602136278 | BUD13 | c.408_443del (p.Asp137_Pro148del) c.309_344del (p.Asp104_Pro115del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |