UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.61799108_61799114del | CA2499224798 | BRIP1 | c.821_827del (p.Cys274SerfsTer5) c.1328_1334del (p.Cys443SerfsTer5) c.1328_1334del (p.Cys443SerfsTer9) n.3069_3075del c.1106_1112del (p.Cys369SerfsTer5) c.906_912del (n.906_912del) c.845_851del (p.Cys282SerfsTer5) c.785_791del (p.Cys262SerfsTer5) | ClinVar dbSNP |
| 17 | g.61799110_61799117delinsTACAGCAC | CA2269178620 | BRIP1 | c.816_823delinsGTGCTGTA (p.Val272=) c.1323_1330delinsGTGCTGTA (p.Val441=) n.3064_3071delinsGTGCTGTA c.1101_1108delinsGTGCTGTA (p.Val367=) c.901_908delinsGTGCTGTA (n.901_908delinsGTGCTGTA) c.840_847delinsGTGCTGTA (p.Val280=) c.780_787delinsGTGCTGTA (p.Val260=) | |
| 17 | g.61799111A>C | CA400483350 | BRIP1 | c.822T>G (p.Cys274Trp) c.1329T>G (p.Cys443Trp) n.3070T>G c.1107T>G (p.Cys369Trp) c.907T>G (n.907T>G) c.846T>G (p.Cys282Trp) c.786T>G (p.Cys262Trp) | dbSNP |
| 17 | g.61799111A>G | CA501151455 | BRIP1 | c.822T>C (p.Cys274=) c.1329T>C (p.Cys443=) n.3070T>C c.1107T>C (p.Cys369=) c.907T>C (n.907T>C) c.846T>C (p.Cys282=) c.786T>C (p.Cys262=) | ClinVar dbSNP |
| 17 | g.61799111A>T | CA400483352 | BRIP1 | c.822T>A (p.Cys274Ter) c.1329T>A (p.Cys443Ter) n.3070T>A c.1107T>A (p.Cys369Ter) c.907T>A (n.907T>A) c.846T>A (p.Cys282Ter) c.786T>A (p.Cys262Ter) | dbSNP |
| 17 | g.61799116_61799122del | CA891862960 | BRIP1 | c.816_822del (p.Cys273AlafsTer6) c.1323_1329del (p.Cys442AlafsTer6) c.1323_1329del (p.Cys442AlafsTer10) n.3064_3070del c.1101_1107del (p.Cys368AlafsTer6) c.901_907del (n.901_907del) c.840_846del (p.Cys281AlafsTer6) c.780_786del (p.Cys261AlafsTer6) | ClinVar dbSNP |
| 17 | g.61799112C>A | CA400483355 | BRIP1 | c.821G>T (p.Cys274Phe) c.1328G>T (p.Cys443Phe) n.3069G>T c.1106G>T (p.Cys369Phe) c.906G>T (n.906G>T) c.845G>T (p.Cys282Phe) c.785G>T (p.Cys262Phe) | |
| 17 | g.61799112C= | CA2269178621 | BRIP1 | c.821G= (p.Cys274=) c.1328G= (p.Cys443=) n.3069G= c.1106G= (p.Cys369=) c.906G= (n.906G=) c.845G= (p.Cys282=) c.785G= (p.Cys262=) | |
| 17 | g.61799112C>G | CA400483358 | BRIP1 | c.821G>C (p.Cys274Ser) c.1328G>C (p.Cys443Ser) n.3069G>C c.1106G>C (p.Cys369Ser) c.906G>C (n.906G>C) c.845G>C (p.Cys282Ser) c.785G>C (p.Cys262Ser) | dbSNP |
| 17 | g.61799112C>T | CA400483360 | BRIP1 | c.821G>A (p.Cys274Tyr) c.1328G>A (p.Cys443Tyr) n.3069G>A c.1106G>A (p.Cys369Tyr) c.906G>A (n.906G>A) c.845G>A (p.Cys282Tyr) c.785G>A (p.Cys262Tyr) | ClinVar dbSNP gnomAD v4 |
| 17 | g.61799113A>C | CA400483362 | BRIP1 | c.820T>G (p.Cys274Gly) c.1327T>G (p.Cys443Gly) n.3068T>G c.1105T>G (p.Cys369Gly) c.905T>G (n.905T>G) c.844T>G (p.Cys282Gly) c.784T>G (p.Cys262Gly) | |
| 17 | g.61799113A>G | CA400483364 | BRIP1 | c.820T>C (p.Cys274Arg) c.1327T>C (p.Cys443Arg) n.3068T>C c.1105T>C (p.Cys369Arg) c.905T>C (n.905T>C) c.844T>C (p.Cys282Arg) c.784T>C (p.Cys262Arg) | ClinVar dbSNP |
| 17 | g.61799113A>T | CA400483366 | BRIP1 | c.820T>A (p.Cys274Ser) c.1327T>A (p.Cys443Ser) n.3068T>A c.1105T>A (p.Cys369Ser) c.905T>A (n.905T>A) c.844T>A (p.Cys282Ser) c.784T>A (p.Cys262Ser) | dbSNP |
| 17 | g.61799114G>A | CA501151456 | BRIP1 | c.819C>T (p.Cys273=) c.1326C>T (p.Cys442=) n.3067C>T c.1104C>T (p.Cys368=) c.904C>T (n.904C>T) c.843C>T (p.Cys281=) c.783C>T (p.Cys261=) | dbSNP |
| 17 | g.61799114G>C | CA400483371 | BRIP1 | c.819C>G (p.Cys273Trp) c.1326C>G (p.Cys442Trp) n.3067C>G c.1104C>G (p.Cys368Trp) c.904C>G (n.904C>G) c.843C>G (p.Cys281Trp) c.783C>G (p.Cys261Trp) | dbSNP |
| 17 | g.61799114G>T | CA400483369 | BRIP1 | c.819C>A (p.Cys273Ter) c.1326C>A (p.Cys442Ter) n.3067C>A c.1104C>A (p.Cys368Ter) c.904C>A (n.904C>A) c.843C>A (p.Cys281Ter) c.783C>A (p.Cys261Ter) | ClinVar dbSNP |
| 17 | g.61799115C>A | CA400483374 | BRIP1 | c.818G>T (p.Cys273Phe) c.1325G>T (p.Cys442Phe) n.3066G>T c.1103G>T (p.Cys368Phe) c.903G>T (n.903G>T) c.842G>T (p.Cys281Phe) c.782G>T (p.Cys261Phe) | ClinVar dbSNP |
| 17 | g.61799115C= | CA2269178622 | BRIP1 | c.818G= (p.Cys273=) c.1325G= (p.Cys442=) n.3066G= c.1103G= (p.Cys368=) c.903G= (n.903G=) c.842G= (p.Cys281=) c.782G= (p.Cys261=) | |
| 17 | g.61799115C>G | CA400483379 | BRIP1 | c.818G>C (p.Cys273Ser) c.1325G>C (p.Cys442Ser) n.3066G>C c.1103G>C (p.Cys368Ser) c.903G>C (n.903G>C) c.842G>C (p.Cys281Ser) c.782G>C (p.Cys261Ser) | ClinVar dbSNP |
| 17 | g.61799115C>T | CA400483377 | BRIP1 | c.818G>A (p.Cys273Tyr) c.1325G>A (p.Cys442Tyr) n.3066G>A c.1103G>A (p.Cys368Tyr) c.903G>A (n.903G>A) c.842G>A (p.Cys281Tyr) c.782G>A (p.Cys261Tyr) | dbSNP gnomAD v4 |
| 17 | g.61799116A= | CA2269178623 | BRIP1 | c.817T= (p.Cys273=) c.1324T= (p.Cys442=) n.3065T= c.1102T= (p.Cys368=) c.902T= (n.902T=) c.841T= (p.Cys281=) c.781T= (p.Cys261=) | |
| 17 | g.61799116A>C | CA400483381 | BRIP1 | c.817T>G (p.Cys273Gly) c.1324T>G (p.Cys442Gly) n.3065T>G c.1102T>G (p.Cys368Gly) c.902T>G (n.902T>G) c.841T>G (p.Cys281Gly) c.781T>G (p.Cys261Gly) | ClinVar dbSNP |
| 17 | g.61799116A>G | CA400483383 | BRIP1 | c.817T>C (p.Cys273Arg) c.1324T>C (p.Cys442Arg) n.3065T>C c.1102T>C (p.Cys368Arg) c.902T>C (n.902T>C) c.841T>C (p.Cys281Arg) c.781T>C (p.Cys261Arg) | ClinVar dbSNP |
| 17 | g.61799116A>T | CA400483384 | BRIP1 | c.817T>A (p.Cys273Ser) c.1324T>A (p.Cys442Ser) n.3065T>A c.1102T>A (p.Cys368Ser) c.902T>A (n.902T>A) c.841T>A (p.Cys281Ser) c.781T>A (p.Cys261Ser) | dbSNP |
| 17 | g.61799117C>A | CA501151457 | BRIP1 | c.816G>T (p.Val272=) c.1323G>T (p.Val441=) n.3064G>T c.1101G>T (p.Val367=) c.901G>T (n.901G>T) c.840G>T (p.Val280=) c.780G>T (p.Val260=) | ClinVar dbSNP |
| 17 | g.61799117C= | CA2269178624 | BRIP1 | c.816G= (p.Val272=) c.1323G= (p.Val441=) n.3064G= c.1101G= (p.Val367=) c.901G= (n.901G=) c.840G= (p.Val280=) c.780G= (p.Val260=) | |
| 17 | g.61799117C>G | CA501151458 | BRIP1 | c.816G>C (p.Val272=) c.1323G>C (p.Val441=) n.3064G>C c.1101G>C (p.Val367=) c.901G>C (n.901G>C) c.840G>C (p.Val280=) c.780G>C (p.Val260=) | dbSNP |
| 17 | g.61799117C>T | CA501151459 | BRIP1 | c.816G>A (p.Val272=) c.1323G>A (p.Val441=) n.3064G>A c.1101G>A (p.Val367=) c.901G>A (n.901G>A) c.840G>A (p.Val280=) c.780G>A (p.Val260=) | ClinVar |
| 17 | g.61799118A= | CA2269178625 | BRIP1 | c.815T= (p.Val272=) c.1322T= (p.Val441=) n.3063T= c.1100T= (p.Val367=) c.900T= (n.900T=) c.839T= (p.Val280=) c.779T= (p.Val260=) | |
| 17 | g.61799118A>C | CA400483386 | BRIP1 | c.815T>G (p.Val272Gly) c.1322T>G (p.Val441Gly) n.3063T>G c.1100T>G (p.Val367Gly) c.900T>G (n.900T>G) c.839T>G (p.Val280Gly) c.779T>G (p.Val260Gly) | ClinVar dbSNP |
| 17 | g.61799118A>G | CA400483388 | BRIP1 | c.815T>C (p.Val272Ala) c.1322T>C (p.Val441Ala) n.3063T>C c.1100T>C (p.Val367Ala) c.900T>C (n.900T>C) c.839T>C (p.Val280Ala) c.779T>C (p.Val260Ala) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.61799118A>T | CA400483389 | BRIP1 | c.815T>A (p.Val272Glu) c.1322T>A (p.Val441Glu) n.3063T>A c.1100T>A (p.Val367Glu) c.900T>A (n.900T>A) c.839T>A (p.Val280Glu) c.779T>A (p.Val260Glu) | dbSNP |
| 17 | g.61799119C>A | CA400483391 | BRIP1 | c.814G>T (p.Val272Leu) c.1321G>T (p.Val441Leu) n.3062G>T c.1099G>T (p.Val367Leu) c.899G>T (n.899G>T) c.838G>T (p.Val280Leu) c.778G>T (p.Val260Leu) | dbSNP gnomAD v4 |
| 17 | g.61799119C= | CA2269178626 | BRIP1 | c.814G= (p.Val272=) c.1321G= (p.Val441=) n.3062G= c.1099G= (p.Val367=) c.899G= (n.899G=) c.838G= (p.Val280=) c.778G= (p.Val260=) | |
| 17 | g.61799119C>G | CA400483394 | BRIP1 | c.814G>C (p.Val272Leu) c.1321G>C (p.Val441Leu) n.3062G>C c.1099G>C (p.Val367Leu) c.899G>C (n.899G>C) c.838G>C (p.Val280Leu) c.778G>C (p.Val260Leu) | dbSNP |
| 17 | g.61799119C>T | CA16615502 | BRIP1 | c.814G>A (p.Val272Met) c.1321G>A (p.Val441Met) n.3062G>A c.1099G>A (p.Val367Met) c.899G>A (n.899G>A) c.838G>A (p.Val280Met) c.778G>A (p.Val260Met) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.61799120A>C | CA501151460 | BRIP1 | c.813T>G (p.Ala271=) c.1320T>G (p.Ala440=) n.3061T>G c.1098T>G (p.Ala366=) c.898T>G (n.898T>G) c.837T>G (p.Ala279=) c.777T>G (p.Ala259=) | |
| 17 | g.61799120A>G | CA501151461 | BRIP1 | c.813T>C (p.Ala271=) c.1320T>C (p.Ala440=) n.3061T>C c.1098T>C (p.Ala366=) c.898T>C (n.898T>C) c.837T>C (p.Ala279=) c.777T>C (p.Ala259=) | ClinVar dbSNP |
| 17 | g.61799120A>T | CA501151462 | BRIP1 | c.813T>A (p.Ala271=) c.1320T>A (p.Ala440=) n.3061T>A c.1098T>A (p.Ala366=) c.898T>A (n.898T>A) c.837T>A (p.Ala279=) c.777T>A (p.Ala259=) | |
| 17 | g.61799121G>A | CA400483398 | BRIP1 | c.812C>T (p.Ala271Val) c.1319C>T (p.Ala440Val) n.3060C>T c.1097C>T (p.Ala366Val) c.897C>T (n.897C>T) c.836C>T (p.Ala279Val) c.776C>T (p.Ala259Val) | ClinVar dbSNP |
| 17 | g.61799121G>C | CA400483399 | BRIP1 | c.812C>G (p.Ala271Gly) c.1319C>G (p.Ala440Gly) n.3060C>G c.1097C>G (p.Ala366Gly) c.897C>G (n.897C>G) c.836C>G (p.Ala279Gly) c.776C>G (p.Ala259Gly) | dbSNP |
| 17 | g.61799121G>T | CA400483400 | BRIP1 | c.812C>A (p.Ala271Asp) c.1319C>A (p.Ala440Asp) n.3060C>A c.1097C>A (p.Ala366Asp) c.897C>A (n.897C>A) c.836C>A (p.Ala279Asp) c.776C>A (p.Ala259Asp) | |
| 17 | g.61799122C>A | CA400483408 | BRIP1 | c.811G>T (p.Ala271Ser) c.1318G>T (p.Ala440Ser) n.3059G>T c.1096G>T (p.Ala366Ser) c.896G>T (n.896G>T) c.835G>T (p.Ala279Ser) c.775G>T (p.Ala259Ser) | ClinVar dbSNP |
| 17 | g.61799122C>G | CA400483404 | BRIP1 | c.811G>C (p.Ala271Pro) c.1318G>C (p.Ala440Pro) n.3059G>C c.1096G>C (p.Ala366Pro) c.896G>C (n.896G>C) c.835G>C (p.Ala279Pro) c.775G>C (p.Ala259Pro) | ClinVar dbSNP |
| 17 | g.61799122C>T | CA400483406 | BRIP1 | c.811G>A (p.Ala271Thr) c.1318G>A (p.Ala440Thr) n.3059G>A c.1096G>A (p.Ala366Thr) c.896G>A (n.896G>A) c.835G>A (p.Ala279Thr) c.775G>A (p.Ala259Thr) | dbSNP gnomAD v4 |
| 17 | g.61799123T>A | CA501151466 | BRIP1 | c.810A>T (p.Arg270=) c.1317A>T (p.Arg439=) n.3058A>T c.1095A>T (p.Arg365=) c.895A>T (n.895A>T) c.834A>T (p.Arg278=) c.774A>T (p.Arg258=) | dbSNP |
| 17 | g.61799123T>C | CA501151463 | BRIP1 | c.810A>G (p.Arg270=) c.1317A>G (p.Arg439=) n.3058A>G c.1095A>G (p.Arg365=) c.895A>G (n.895A>G) c.834A>G (p.Arg278=) c.774A>G (p.Arg258=) | |
| 17 | g.61799123T>G | CA501151465 | BRIP1 | c.810A>C (p.Arg270=) c.1317A>C (p.Arg439=) n.3058A>C c.1095A>C (p.Arg365=) c.895A>C (n.895A>C) c.834A>C (p.Arg278=) c.774A>C (p.Arg258=) | |
| 17 | g.61799124C>A | CA400483411 | BRIP1 | c.809G>T (p.Arg270Leu) c.1316G>T (p.Arg439Leu) n.3057G>T c.1094G>T (p.Arg365Leu) c.894G>T (n.894G>T) c.833G>T (p.Arg278Leu) c.773G>T (p.Arg258Leu) | dbSNP |
| 17 | g.61799124C= | CA2269178627 | BRIP1 | c.809G= (p.Arg270=) c.1316G= (p.Arg439=) n.3057G= c.1094G= (p.Arg365=) c.894G= (n.894G=) c.833G= (p.Arg278=) c.773G= (p.Arg258=) |