| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.61799099_61799102del | CA1139665788 | BRIP1 | c.833+2_833+5del c.1340+2_1340+5del n.3081+2_3081+5del c.1118+2_1118+5del c.857+2_857+5del c.797+2_797+5del | ClinVar dbSNP |
| 17 | g.61799100T>A | CA400483270 | BRIP1 | c.833A>T (p.Asn278Ile) c.1340A>T (p.Asn447Ile) c.1340A>T (p.Lys447Met) n.3081A>T c.1118A>T (p.Asn373Ile) c.918A>T (n.918A>T) c.857A>T (p.Asn286Ile) c.797A>T (p.Asn266Ile) | dbSNP |
| 17 | g.61799100T>C | CA400483272 | BRIP1 | c.833A>G (p.Asn278Ser) c.1340A>G (p.Asn447Ser) c.1340A>G (p.Lys447Arg) n.3081A>G c.1118A>G (p.Asn373Ser) c.918A>G (n.918A>G) c.857A>G (p.Asn286Ser) c.797A>G (p.Asn266Ser) | ClinVar dbSNP |
| 17 | g.61799100T>G | CA400483274 | BRIP1 | c.833A>C (p.Asn278Thr) c.1340A>C (p.Asn447Thr) c.1340A>C (p.Lys447Thr) n.3081A>C c.1118A>C (p.Asn373Thr) c.918A>C (n.918A>C) c.857A>C (p.Asn286Thr) c.797A>C (p.Asn266Thr) | ClinVar dbSNP |
| 17 | g.61799100T= | CA2269178613 | BRIP1 | c.833A= (p.Asn278=) c.1340A= (p.Asn447=) c.1340A= (p.Lys447=) n.3081A= c.1118A= (p.Asn373=) c.918A= (n.918A=) c.857A= (p.Asn286=) c.797A= (p.Asn266=) | |
| 17 | g.61799101_61799104dup | CA1139768350 | BRIP1 | c.830_833dup (p.Trp279Ter) c.1337_1340dup (p.Trp448Ter) c.1337_1340dup (p.Lys447AsnfsTer2) n.3078_3081dup c.1115_1118dup (p.Trp374Ter) c.854_857dup (p.Trp287Ter) c.794_797dup (p.Trp267Ter) | |
| 17 | g.61799101T>A | CA400483278 | BRIP1 | c.832A>T (p.Asn278Tyr) c.1339A>T (p.Asn447Tyr) c.1339A>T (p.Lys447Ter) n.3080A>T c.1117A>T (p.Asn373Tyr) c.917A>T (n.917A>T) c.856A>T (p.Asn286Tyr) c.796A>T (p.Asn266Tyr) | |
| 17 | g.61799101T>C | CA400483280 | BRIP1 | c.832A>G (p.Asn278Asp) c.1339A>G (p.Asn447Asp) c.1339A>G (p.Lys447Glu) n.3080A>G c.1117A>G (p.Asn373Asp) c.917A>G (n.917A>G) c.856A>G (p.Asn286Asp) c.796A>G (p.Asn266Asp) | |
| 17 | g.61799101T>G | CA400483282 | BRIP1 | c.832A>C (p.Asn278His) c.1339A>C (p.Asn447His) c.1339A>C (p.Lys447Gln) n.3080A>C c.1117A>C (p.Asn373His) c.917A>C (n.917A>C) c.856A>C (p.Asn286His) c.796A>C (p.Asn266His) | ClinVar dbSNP |
| 17 | g.61799101T= | CA2269178614 | BRIP1 | c.832A= (p.Asn278=) c.1339A= (p.Asn447=) c.1339A= (p.Lys447=) n.3080A= c.1117A= (p.Asn373=) c.917A= (n.917A=) c.856A= (p.Asn286=) c.796A= (p.Asn266=) | |
| 17 | g.61799102A>C | CA400483286 | BRIP1 | c.831T>G (p.Ile277Met) c.1338T>G (p.Ile446Met) n.3079T>G c.1116T>G (p.Ile372Met) c.916T>G (n.916T>G) c.855T>G (p.Ile285Met) c.795T>G (p.Ile265Met) | |
| 17 | g.61799102A>G | CA501151451 | BRIP1 | c.831T>C (p.Ile277=) c.1338T>C (p.Ile446=) n.3079T>C c.1116T>C (p.Ile372=) c.916T>C (n.916T>C) c.855T>C (p.Ile285=) c.795T>C (p.Ile265=) | dbSNP |
| 17 | g.61799102A>T | CA501151450 | BRIP1 | c.831T>A (p.Ile277=) c.1338T>A (p.Ile446=) n.3079T>A c.1116T>A (p.Ile372=) c.916T>A (n.916T>A) c.855T>A (p.Ile285=) c.795T>A (p.Ile265=) | dbSNP |
| 17 | g.61799103del | CA2580613193 | BRIP1 | c.831del (p.Asn278IlefsTer3) c.1338del (p.Asn447IlefsTer3) c.1338del (p.Lys447SerfsTer7) n.3079del c.1116del (p.Asn373IlefsTer3) c.916del (n.916del) c.855del (p.Asn286IlefsTer3) c.795del (p.Asn266IlefsTer3) | ClinVar |
| 17 | g.61799103A= | CA2269178615 | BRIP1 | c.830T= (p.Ile277=) c.1337T= (p.Ile446=) n.3078T= c.1115T= (p.Ile372=) c.915T= (n.915T=) c.854T= (p.Ile285=) c.794T= (p.Ile265=) | |
| 17 | g.61799103A>C | CA400483300 | BRIP1 | c.830T>G (p.Ile277Ser) c.1337T>G (p.Ile446Ser) n.3078T>G c.1115T>G (p.Ile372Ser) c.915T>G (n.915T>G) c.854T>G (p.Ile285Ser) c.794T>G (p.Ile265Ser) | |
| 17 | g.61799103A>G | CA400483304 | BRIP1 | c.830T>C (p.Ile277Thr) c.1337T>C (p.Ile446Thr) n.3078T>C c.1115T>C (p.Ile372Thr) c.915T>C (n.915T>C) c.854T>C (p.Ile285Thr) c.794T>C (p.Ile265Thr) | ClinVar dbSNP gnomAD v4 |
| 17 | g.61799103A>T | CA400483302 | BRIP1 | c.830T>A (p.Ile277Asn) c.1337T>A (p.Ile446Asn) n.3078T>A c.1115T>A (p.Ile372Asn) c.915T>A (n.915T>A) c.854T>A (p.Ile285Asn) c.794T>A (p.Ile265Asn) | dbSNP |
| 17 | g.61799104T>A | CA400483307 | BRIP1 | c.829A>T (p.Ile277Phe) c.1336A>T (p.Ile446Phe) n.3077A>T c.1114A>T (p.Ile372Phe) c.914A>T (n.914A>T) c.853A>T (p.Ile285Phe) c.793A>T (p.Ile265Phe) | ClinVar dbSNP |
| 17 | g.61799104T>C | CA400483309 | BRIP1 | c.829A>G (p.Ile277Val) c.1336A>G (p.Ile446Val) n.3077A>G c.1114A>G (p.Ile372Val) c.914A>G (n.914A>G) c.853A>G (p.Ile285Val) c.793A>G (p.Ile265Val) | ClinVar dbSNP gnomAD v4 |
| 17 | g.61799104T>G | CA196810 | BRIP1 | c.829A>C (p.Ile277Leu) c.1336A>C (p.Ile446Leu) n.3077A>C c.1114A>C (p.Ile372Leu) c.914A>C (n.914A>C) c.853A>C (p.Ile285Leu) c.793A>C (p.Ile265Leu) | ClinVar dbSNP gnomAD v4 |
| 17 | g.61799104T= | CA2269178616 | BRIP1 | c.829A= (p.Ile277=) c.1336A= (p.Ile446=) n.3077A= c.1114A= (p.Ile372=) c.914A= (n.914A=) c.853A= (p.Ile285=) c.793A= (p.Ile265=) | |
| 17 | g.61799105G>A | CA501151452 | BRIP1 | c.828C>T (p.Leu276=) c.1335C>T (p.Leu445=) n.3076C>T c.1113C>T (p.Leu371=) c.913C>T (n.913C>T) c.852C>T (p.Leu284=) c.792C>T (p.Leu264=) | dbSNP |
| 17 | g.61799105G>C | CA501151453 | BRIP1 | c.828C>G (p.Leu276=) c.1335C>G (p.Leu445=) n.3076C>G c.1113C>G (p.Leu371=) c.913C>G (n.913C>G) c.852C>G (p.Leu284=) c.792C>G (p.Leu264=) | dbSNP |
| 17 | g.61799105G>T | CA501151454 | BRIP1 | c.828C>A (p.Leu276=) c.1335C>A (p.Leu445=) n.3076C>A c.1113C>A (p.Leu371=) c.913C>A (n.913C>A) c.852C>A (p.Leu284=) c.792C>A (p.Leu264=) | dbSNP COSMIC COSMIC |
| 17 | g.61799106A>C | CA400483313 | BRIP1 | c.827T>G (p.Leu276Arg) c.1334T>G (p.Leu445Arg) n.3075T>G c.1112T>G (p.Leu371Arg) c.912T>G (n.912T>G) c.851T>G (p.Leu284Arg) c.791T>G (p.Leu264Arg) | |
| 17 | g.61799106A>G | CA400483315 | BRIP1 | c.827T>C (p.Leu276Pro) c.1334T>C (p.Leu445Pro) n.3075T>C c.1112T>C (p.Leu371Pro) c.912T>C (n.912T>C) c.851T>C (p.Leu284Pro) c.791T>C (p.Leu264Pro) | dbSNP |
| 17 | g.61799106A>T | CA400483317 | BRIP1 | c.827T>A (p.Leu276His) c.1334T>A (p.Leu445His) n.3075T>A c.1112T>A (p.Leu371His) c.912T>A (n.912T>A) c.851T>A (p.Leu284His) c.791T>A (p.Leu264His) | dbSNP |
| 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.61799107G>A | CA400483320 | BRIP1 | c.826C>T (p.Leu276Phe) c.1333C>T (p.Leu445Phe) n.3074C>T c.1111C>T (p.Leu371Phe) c.911C>T (n.911C>T) c.850C>T (p.Leu284Phe) c.790C>T (p.Leu264Phe) | dbSNP |
| 17 | g.61799107G>C | CA400483321 | BRIP1 | c.826C>G (p.Leu276Val) c.1333C>G (p.Leu445Val) n.3074C>G c.1111C>G (p.Leu371Val) c.911C>G (n.911C>G) c.850C>G (p.Leu284Val) c.790C>G (p.Leu264Val) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.61799107G= | CA2269178617 | BRIP1 | c.826C= (p.Leu276=) c.1333C= (p.Leu445=) n.3074C= c.1111C= (p.Leu371=) c.911C= (n.911C=) c.850C= (p.Leu284=) c.790C= (p.Leu264=) | |
| 17 | g.61799107G>T | CA400483323 | BRIP1 | c.826C>A (p.Leu276Ile) c.1333C>A (p.Leu445Ile) n.3074C>A c.1111C>A (p.Leu371Ile) c.911C>A (n.911C>A) c.850C>A (p.Leu284Ile) c.790C>A (p.Leu264Ile) | dbSNP |
| 17 | g.61799108G>A | CA8690763 | BRIP1 | c.825C>T (p.Ser275=) c.1332C>T (p.Ser444=) n.3073C>T c.1110C>T (p.Ser370=) c.910C>T (n.910C>T) c.849C>T (p.Ser283=) c.789C>T (p.Ser263=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 17 | g.61799108G>C | CA400483328 | BRIP1 | c.825C>G (p.Ser275Arg) c.1332C>G (p.Ser444Arg) n.3073C>G c.1110C>G (p.Ser370Arg) c.910C>G (n.910C>G) c.849C>G (p.Ser283Arg) c.789C>G (p.Ser263Arg) | ClinVar dbSNP |
| 17 | g.61799108G= | CA2269178618 | BRIP1 | c.825C= (p.Ser275=) c.1332C= (p.Ser444=) n.3073C= c.1110C= (p.Ser370=) c.910C= (n.910C=) c.849C= (p.Ser283=) c.789C= (p.Ser263=) | |
| 17 | g.61799108G>T | CA400483331 | BRIP1 | c.825C>A (p.Ser275Arg) c.1332C>A (p.Ser444Arg) n.3073C>A c.1110C>A (p.Ser370Arg) c.910C>A (n.910C>A) c.849C>A (p.Ser283Arg) c.789C>A (p.Ser263Arg) | ClinVar dbSNP |
| 17 | g.61799109C>A | CA400483339 | BRIP1 | c.824G>T (p.Ser275Ile) c.1331G>T (p.Ser444Ile) n.3072G>T c.1109G>T (p.Ser370Ile) c.909G>T (n.909G>T) c.848G>T (p.Ser283Ile) c.788G>T (p.Ser263Ile) | dbSNP |
| 17 | g.61799109C= | CA2269178619 | BRIP1 | c.824G= (p.Ser275=) c.1331G= (p.Ser444=) n.3072G= c.1109G= (p.Ser370=) c.909G= (n.909G=) c.848G= (p.Ser283=) c.788G= (p.Ser263=) | |
| 17 | g.61799109C>G | CA400483334 | BRIP1 | c.824G>C (p.Ser275Thr) c.1331G>C (p.Ser444Thr) n.3072G>C c.1109G>C (p.Ser370Thr) c.909G>C (n.909G>C) c.848G>C (p.Ser283Thr) c.788G>C (p.Ser263Thr) | ClinVar dbSNP |
| 17 | g.61799109C>T | CA400483336 | BRIP1 | c.824G>A (p.Ser275Asn) c.1331G>A (p.Ser444Asn) n.3072G>A c.1109G>A (p.Ser370Asn) c.909G>A (n.909G>A) c.848G>A (p.Ser283Asn) c.788G>A (p.Ser263Asn) | dbSNP |
| 17 | g.61799110T>A | CA400483341 | BRIP1 | c.823A>T (p.Ser275Cys) c.1330A>T (p.Ser444Cys) n.3071A>T c.1108A>T (p.Ser370Cys) c.908A>T (n.908A>T) c.847A>T (p.Ser283Cys) c.787A>T (p.Ser263Cys) | dbSNP |
| 17 | g.61799110T>C | CA400483343 | BRIP1 | c.823A>G (p.Ser275Gly) c.1330A>G (p.Ser444Gly) n.3071A>G c.1108A>G (p.Ser370Gly) c.908A>G (n.908A>G) c.847A>G (p.Ser283Gly) c.787A>G (p.Ser263Gly) | ClinVar |
| 17 | g.61799110T>G | CA400483346 | BRIP1 | c.823A>C (p.Ser275Arg) c.1330A>C (p.Ser444Arg) n.3071A>C c.1108A>C (p.Ser370Arg) c.908A>C (n.908A>C) c.847A>C (p.Ser283Arg) c.787A>C (p.Ser263Arg) | |
| 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=) | |
| 17 | g.61799124C>G | CA400483414 | BRIP1 | c.809G>C (p.Arg270Pro) c.1316G>C (p.Arg439Pro) n.3057G>C c.1094G>C (p.Arg365Pro) c.894G>C (n.894G>C) c.833G>C (p.Arg278Pro) c.773G>C (p.Arg258Pro) | dbSNP |
| 17 | g.61799124C>T | CA8690764 | BRIP1 | c.809G>A (p.Arg270Gln) c.1316G>A (p.Arg439Gln) n.3057G>A c.1094G>A (p.Arg365Gln) c.894G>A (n.894G>A) c.833G>A (p.Arg278Gln) c.773G>A (p.Arg258Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 17 | g.61799125G>A | CA288511 | BRIP1 | c.808C>T (p.Arg270Ter) c.1315C>T (p.Arg439Ter) n.3056C>T c.1093C>T (p.Arg365Ter) c.893C>T (n.893C>T) c.832C>T (p.Arg278Ter) c.772C>T (p.Arg258Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.61799125G>C | CA400483419 | BRIP1 | c.808C>G (p.Arg270Gly) c.1315C>G (p.Arg439Gly) n.3056C>G c.1093C>G (p.Arg365Gly) c.893C>G (n.893C>G) c.832C>G (p.Arg278Gly) c.772C>G (p.Arg258Gly) | dbSNP |
| 17 | g.61799125G= | CA2269178628 | BRIP1 | c.808C= (p.Arg270=) c.1315C= (p.Arg439=) n.3056C= c.1093C= (p.Arg365=) c.893C= (n.893C=) c.832C= (p.Arg278=) c.772C= (p.Arg258=) | |
| 17 | g.61799125G>T | CA501151467 | BRIP1 | c.808C>A (p.Arg270=) c.1315C>A (p.Arg439=) n.3056C>A c.1093C>A (p.Arg365=) c.893C>A (n.893C>A) c.832C>A (p.Arg278=) c.772C>A (p.Arg258=) | ClinVar dbSNP gnomAD v4 |
| 17 | g.61799126T>A | CA501151468 | BRIP1 | c.807A>T (p.Leu269=) c.1314A>T (p.Leu438=) n.3055A>T c.1092A>T (p.Leu364=) c.892A>T (n.892A>T) c.831A>T (p.Leu277=) c.771A>T (p.Leu257=) | |
| 17 | g.61799126T>C | CA501151469 | BRIP1 | c.807A>G (p.Leu269=) c.1314A>G (p.Leu438=) n.3055A>G c.1092A>G (p.Leu364=) c.892A>G (n.892A>G) c.831A>G (p.Leu277=) c.771A>G (p.Leu257=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.61799126T>G | CA501151470 | BRIP1 | c.807A>C (p.Leu269=) c.1314A>C (p.Leu438=) n.3055A>C c.1092A>C (p.Leu364=) c.892A>C (n.892A>C) c.831A>C (p.Leu277=) c.771A>C (p.Leu257=) | |
| 17 | g.61799126T= | CA2269178629 | BRIP1 | c.807A= (p.Leu269=) c.1314A= (p.Leu438=) n.3055A= c.1092A= (p.Leu364=) c.892A= (n.892A=) c.831A= (p.Leu277=) c.771A= (p.Leu257=) | |
| 17 | g.61799127A= | CA2269178631 | BRIP1 | c.806T= (p.Leu269=) c.1313T= (p.Leu438=) n.3054T= c.1091T= (p.Leu364=) c.891T= (n.891T=) c.830T= (p.Leu277=) c.770T= (p.Leu257=) | |
| 17 | g.61799127A>C | CA400483422 | BRIP1 | c.806T>G (p.Leu269Arg) c.1313T>G (p.Leu438Arg) n.3054T>G c.1091T>G (p.Leu364Arg) c.891T>G (n.891T>G) c.830T>G (p.Leu277Arg) c.770T>G (p.Leu257Arg) | ClinVar dbSNP |
| 17 | g.61799127A>G | CA400483423 | BRIP1 | c.806T>C (p.Leu269Pro) c.1313T>C (p.Leu438Pro) n.3054T>C c.1091T>C (p.Leu364Pro) c.891T>C (n.891T>C) c.830T>C (p.Leu277Pro) c.770T>C (p.Leu257Pro) | ClinVar dbSNP |
| 17 | g.61799127A>T | CA400483425 | BRIP1 | c.806T>A (p.Leu269Gln) c.1313T>A (p.Leu438Gln) n.3054T>A c.1091T>A (p.Leu364Gln) c.891T>A (n.891T>A) c.830T>A (p.Leu277Gln) c.770T>A (p.Leu257Gln) | dbSNP |
| 17 | g.61799127_61799128delinsAG | CA2269178630 | BRIP1 | c.805_806delinsCT (p.Leu269=) c.1312_1313delinsCT (p.Leu438=) n.3053_3054delinsCT c.1090_1091delinsCT (p.Leu364=) c.890_891delinsCT (n.890_891delinsCT) c.829_830delinsCT (p.Leu277=) c.769_770delinsCT (p.Leu257=) | |
| 17 | g.61799128G>A | CA8690766 | BRIP1 | c.805C>T (p.Leu269=) c.1312C>T (p.Leu438=) n.3053C>T c.1090C>T (p.Leu364=) c.890C>T (n.890C>T) c.829C>T (p.Leu277=) c.769C>T (p.Leu257=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.61799128G>C | CA400483430 | BRIP1 | c.805C>G (p.Leu269Val) c.1312C>G (p.Leu438Val) n.3053C>G c.1090C>G (p.Leu364Val) c.890C>G (n.890C>G) c.829C>G (p.Leu277Val) c.769C>G (p.Leu257Val) | dbSNP |
| 17 | g.61799128G= | CA2269178632 | BRIP1 | c.805C= (p.Leu269=) c.1312C= (p.Leu438=) n.3053C= c.1090C= (p.Leu364=) c.890C= (n.890C=) c.829C= (p.Leu277=) c.769C= (p.Leu257=) | |
| 17 | g.61799128G>T | CA8690765 | BRIP1 | c.805C>A (p.Leu269Ile) c.1312C>A (p.Leu438Ile) n.3053C>A c.1090C>A (p.Leu364Ile) c.890C>A (n.890C>A) c.829C>A (p.Leu277Ile) c.769C>A (p.Leu257Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.61799131del | CA16620535 | BRIP1 | c.805del (p.Leu269TyrfsTer12) c.1312del (p.Leu438TyrfsTer12) c.1312del (p.Leu438TyrfsTer16) n.3053del c.1090del (p.Leu364TyrfsTer12) c.890del (n.890del) c.829del (p.Leu277TyrfsTer12) c.769del (p.Leu257TyrfsTer12) | ClinVar dbSNP |
| 17 | g.61799129G>A | CA16615503 | BRIP1 | c.804C>T (p.Pro268=) c.1311C>T (p.Pro437=) n.3052C>T c.1089C>T (p.Pro363=) c.889C>T (n.889C>T) c.828C>T (p.Pro276=) c.768C>T (p.Pro256=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.61799129G>C | CA501151472 | BRIP1 | c.804C>G (p.Pro268=) c.1311C>G (p.Pro437=) n.3052C>G c.1089C>G (p.Pro363=) c.889C>G (n.889C>G) c.828C>G (p.Pro276=) c.768C>G (p.Pro256=) | dbSNP |
| 17 | g.61799129G= | CA2269178633 | BRIP1 | c.804C= (p.Pro268=) c.1311C= (p.Pro437=) n.3052C= c.1089C= (p.Pro363=) c.889C= (n.889C=) c.828C= (p.Pro276=) c.768C= (p.Pro256=) | |
| 17 | g.61799129G>T | CA501151473 | BRIP1 | c.804C>A (p.Pro268=) c.1311C>A (p.Pro437=) n.3052C>A c.1089C>A (p.Pro363=) c.889C>A (n.889C>A) c.828C>A (p.Pro276=) c.768C>A (p.Pro256=) | dbSNP |
| 17 | g.61799130G>A | CA400483437 | BRIP1 | c.803C>T (p.Pro268Leu) c.1310C>T (p.Pro437Leu) n.3051C>T c.1088C>T (p.Pro363Leu) c.888C>T (n.888C>T) c.827C>T (p.Pro276Leu) c.767C>T (p.Pro256Leu) | dbSNP gnomAD v4 |
| 17 | g.61799130G>C | CA400483435 | BRIP1 | c.803C>G (p.Pro268Arg) c.1310C>G (p.Pro437Arg) n.3051C>G c.1088C>G (p.Pro363Arg) c.888C>G (n.888C>G) c.827C>G (p.Pro276Arg) c.767C>G (p.Pro256Arg) | dbSNP |
| 17 | g.61799130G>T | CA400483432 | BRIP1 | c.803C>A (p.Pro268His) c.1310C>A (p.Pro437His) n.3051C>A c.1088C>A (p.Pro363His) c.888C>A (n.888C>A) c.827C>A (p.Pro276His) c.767C>A (p.Pro256His) | dbSNP |
| 17 | g.61799131G>A | CA400483440 | BRIP1 | c.802C>T (p.Pro268Ser) c.1309C>T (p.Pro437Ser) n.3050C>T c.1087C>T (p.Pro363Ser) c.887C>T (n.887C>T) c.826C>T (p.Pro276Ser) c.766C>T (p.Pro256Ser) | ClinVar dbSNP gnomAD v4 |
| 17 | g.61799131G>C | CA10583634 | BRIP1 | c.802C>G (p.Pro268Ala) c.1309C>G (p.Pro437Ala) n.3050C>G c.1087C>G (p.Pro363Ala) c.887C>G (n.887C>G) c.826C>G (p.Pro276Ala) c.766C>G (p.Pro256Ala) | ClinVar dbSNP gnomAD v4 |
| 17 | g.61799131G= | CA2269178634 | BRIP1 | c.802C= (p.Pro268=) c.1309C= (p.Pro437=) n.3050C= c.1087C= (p.Pro363=) c.887C= (n.887C=) c.826C= (p.Pro276=) c.766C= (p.Pro256=) | |
| 17 | g.61799131G>T | CA400483444 | BRIP1 | c.802C>A (p.Pro268Thr) c.1309C>A (p.Pro437Thr) n.3050C>A c.1087C>A (p.Pro363Thr) c.887C>A (n.887C>A) c.826C>A (p.Pro276Thr) c.766C>A (p.Pro256Thr) | dbSNP |
| 17 | g.61799132T>A | CA400483447 | BRIP1 | c.801A>T (p.Glu267Asp) c.1308A>T (p.Glu436Asp) n.3049A>T c.1086A>T (p.Glu362Asp) c.886A>T (n.886A>T) c.825A>T (p.Glu275Asp) c.765A>T (p.Glu255Asp) | ClinVar dbSNP |
| 17 | g.61799132T>C | CA501151474 | BRIP1 | c.801A>G (p.Glu267=) c.1308A>G (p.Glu436=) n.3049A>G c.1086A>G (p.Glu362=) c.886A>G (n.886A>G) c.825A>G (p.Glu275=) c.765A>G (p.Glu255=) | ClinVar dbSNP |
| 17 | g.61799132T>G | CA400483450 | BRIP1 | c.801A>C (p.Glu267Asp) c.1308A>C (p.Glu436Asp) n.3049A>C c.1086A>C (p.Glu362Asp) c.886A>C (n.886A>C) c.825A>C (p.Glu275Asp) c.765A>C (p.Glu255Asp) | dbSNP gnomAD v4 |
| 17 | g.61799133T>A | CA400483451 | BRIP1 | c.800A>T (p.Glu267Val) c.1307A>T (p.Glu436Val) n.3048A>T c.1085A>T (p.Glu362Val) c.885A>T (n.885A>T) c.824A>T (p.Glu275Val) c.764A>T (p.Glu255Val) | ClinVar dbSNP |
| 17 | g.61799133T>C | CA400483453 | BRIP1 | c.800A>G (p.Glu267Gly) c.1307A>G (p.Glu436Gly) n.3048A>G c.1085A>G (p.Glu362Gly) c.885A>G (n.885A>G) c.824A>G (p.Glu275Gly) c.764A>G (p.Glu255Gly) | |
| 17 | g.61799133T>G | CA400483456 | BRIP1 | c.800A>C (p.Glu267Ala) c.1307A>C (p.Glu436Ala) n.3048A>C c.1085A>C (p.Glu362Ala) c.885A>C (n.885A>C) c.824A>C (p.Glu275Ala) c.764A>C (p.Glu255Ala) | |
| 17 | g.61799134C>A | CA400483460 | BRIP1 | c.799G>T (p.Glu267Ter) c.1306G>T (p.Glu436Ter) n.3047G>T c.1084G>T (p.Glu362Ter) c.884G>T (n.884G>T) c.823G>T (p.Glu275Ter) c.763G>T (p.Glu255Ter) | dbSNP |
| 17 | g.61799134C>G | CA400483463 | BRIP1 | c.799G>C (p.Glu267Gln) c.1306G>C (p.Glu436Gln) n.3047G>C c.1084G>C (p.Glu362Gln) c.884G>C (n.884G>C) c.823G>C (p.Glu275Gln) c.763G>C (p.Glu255Gln) | dbSNP |
| 17 | g.61799134C>T | CA400483464 | BRIP1 | c.799G>A (p.Glu267Lys) c.1306G>A (p.Glu436Lys) n.3047G>A c.1084G>A (p.Glu362Lys) c.884G>A (n.884G>A) c.823G>A (p.Glu275Lys) c.763G>A (p.Glu255Lys) | dbSNP |
| 17 | g.61799135A= | CA2269178635 | BRIP1 | c.798T= (p.His266=) c.1305T= (p.His435=) n.3046T= c.1083T= (p.His361=) c.883T= (n.883T=) c.822T= (p.His274=) c.762T= (p.His254=) | |
| 17 | g.61799135A>C | CA400483467 | BRIP1 | c.798T>G (p.His266Gln) c.1305T>G (p.His435Gln) n.3046T>G c.1083T>G (p.His361Gln) c.883T>G (n.883T>G) c.822T>G (p.His274Gln) c.762T>G (p.His254Gln) | ClinVar dbSNP |
| 17 | g.61799135A>G | CA501151476 | BRIP1 | c.798T>C (p.His266=) c.1305T>C (p.His435=) n.3046T>C c.1083T>C (p.His361=) c.883T>C (n.883T>C) c.822T>C (p.His274=) c.762T>C (p.His254=) | ClinVar dbSNP |
| 17 | g.61799135A>T | CA400483468 | BRIP1 | c.798T>A (p.His266Gln) c.1305T>A (p.His435Gln) n.3046T>A c.1083T>A (p.His361Gln) c.883T>A (n.883T>A) c.822T>A (p.His274Gln) c.762T>A (p.His254Gln) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.61799136T>A | CA400483472 | BRIP1 | c.797A>T (p.His266Leu) c.1304A>T (p.His435Leu) n.3045A>T c.1082A>T (p.His361Leu) c.882A>T (n.882A>T) c.821A>T (p.His274Leu) c.761A>T (p.His254Leu) | dbSNP |
| 17 | g.61799136T>C | CA298878 | BRIP1 | c.797A>G (p.His266Arg) c.1304A>G (p.His435Arg) n.3045A>G c.1082A>G (p.His361Arg) c.882A>G (n.882A>G) c.821A>G (p.His274Arg) c.761A>G (p.His254Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.61799136T>G | CA400483470 | BRIP1 | c.797A>C (p.His266Pro) c.1304A>C (p.His435Pro) n.3045A>C c.1082A>C (p.His361Pro) c.882A>C (n.882A>C) c.821A>C (p.His274Pro) c.761A>C (p.His254Pro) | gnomAD v4 |
| 17 | g.61799136T= | CA2269178636 | BRIP1 | c.797A= (p.His266=) c.1304A= (p.His435=) n.3045A= c.1082A= (p.His361=) c.882A= (n.882A=) c.821A= (p.His274=) c.761A= (p.His254=) | |
| 17 | g.61799137_61799149del | CA2580094471 | BRIP1 | c.785_797del (p.Arg262MetfsTer15) c.1292_1304del (p.Arg431MetfsTer15) c.1292_1304del (p.Arg431MetfsTer19) n.3033_3045del c.1070_1082del (p.Arg357MetfsTer15) c.870_882del (n.870_882del) c.809_821del (p.Arg270MetfsTer15) c.749_761del (p.Arg250MetfsTer15) | ClinVar |
| 17 | g.61799137G>A | CA16615851 | BRIP1 | c.796C>T (p.His266Tyr) c.1303C>T (p.His435Tyr) n.3044C>T c.1081C>T (p.His361Tyr) c.881C>T (n.881C>T) c.820C>T (p.His274Tyr) c.760C>T (p.His254Tyr) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
| 17 | g.61799137G>C | CA400483475 | BRIP1 | c.796C>G (p.His266Asp) c.1303C>G (p.His435Asp) n.3044C>G c.1081C>G (p.His361Asp) c.881C>G (n.881C>G) c.820C>G (p.His274Asp) c.760C>G (p.His254Asp) | ClinVar dbSNP |
| 17 | g.61799137G= | CA2269178637 | BRIP1 | c.796C= (p.His266=) c.1303C= (p.His435=) n.3044C= c.1081C= (p.His361=) c.881C= (n.881C=) c.820C= (p.His274=) c.760C= (p.His254=) | |
| 17 | g.61799137G>T | CA400483476 | BRIP1 | c.796C>A (p.His266Asn) c.1303C>A (p.His435Asn) n.3044C>A c.1081C>A (p.His361Asn) c.881C>A (n.881C>A) c.820C>A (p.His274Asn) c.760C>A (p.His254Asn) | ClinVar |
| 17 | g.61799137_61799141delinsGATCT | CA2269178638 | BRIP1 | c.792_796delinsAGATC (p.Lys264=) c.1299_1303delinsAGATC (p.Lys433=) n.3040_3044delinsAGATC c.1077_1081delinsAGATC (p.Lys359=) c.877_881delinsAGATC (n.877_881delinsAGATC) c.816_820delinsAGATC (p.Lys272=) c.756_760delinsAGATC (p.Lys252=) | |
| 17 | g.61799138A>C | CA400483477 | BRIP1 | c.795T>G (p.Asp265Glu) c.1302T>G (p.Asp434Glu) n.3043T>G c.1080T>G (p.Asp360Glu) c.880T>G (n.880T>G) c.819T>G (p.Asp273Glu) c.759T>G (p.Asp253Glu) | |
| 17 | g.61799138A>G | CA501151479 | BRIP1 | c.795T>C (p.Asp265=) c.1302T>C (p.Asp434=) n.3043T>C c.1080T>C (p.Asp360=) c.880T>C (n.880T>C) c.819T>C (p.Asp273=) c.759T>C (p.Asp253=) | ClinVar |
| 17 | g.61799138A>T | CA400483478 | BRIP1 | c.795T>A (p.Asp265Glu) c.1302T>A (p.Asp434Glu) n.3043T>A c.1080T>A (p.Asp360Glu) c.880T>A (n.880T>A) c.819T>A (p.Asp273Glu) c.759T>A (p.Asp253Glu) | dbSNP |
| 17 | g.61799138_61799141del | CA1139665789 | BRIP1 | c.792_795del (p.Lys264AsnfsTer16) c.1299_1302del (p.Lys433AsnfsTer16) c.1299_1302del (p.Lys433AsnfsTer20) n.3040_3043del c.1077_1080del (p.Lys359AsnfsTer16) c.877_880del (n.877_880del) c.816_819del (p.Lys272AsnfsTer16) c.756_759del (p.Lys252AsnfsTer16) | ClinVar dbSNP |
| 17 | g.61799139T>A | CA400483480 | BRIP1 | c.794A>T (p.Asp265Val) c.1301A>T (p.Asp434Val) n.3042A>T c.1079A>T (p.Asp360Val) c.879A>T (n.879A>T) c.818A>T (p.Asp273Val) c.758A>T (p.Asp253Val) | ClinVar dbSNP |
| 17 | g.61799139T>C | CA400483482 | BRIP1 | c.794A>G (p.Asp265Gly) c.1301A>G (p.Asp434Gly) n.3042A>G c.1079A>G (p.Asp360Gly) c.879A>G (n.879A>G) c.818A>G (p.Asp273Gly) c.758A>G (p.Asp253Gly) | ClinVar dbSNP gnomAD v4 |
| 17 | g.61799139T>G | CA400483483 | BRIP1 | c.794A>C (p.Asp265Ala) c.1301A>C (p.Asp434Ala) n.3042A>C c.1079A>C (p.Asp360Ala) c.879A>C (n.879A>C) c.818A>C (p.Asp273Ala) c.758A>C (p.Asp253Ala) | ClinVar dbSNP |
| 17 | g.61799139T= | CA2269178639 | BRIP1 | c.794A= (p.Asp265=) c.1301A= (p.Asp434=) n.3042A= c.1079A= (p.Asp360=) c.879A= (n.879A=) c.818A= (p.Asp273=) c.758A= (p.Asp253=) | |
| 17 | g.61799140C>A | CA400483484 | BRIP1 | c.793G>T (p.Asp265Tyr) c.1300G>T (p.Asp434Tyr) n.3041G>T c.1078G>T (p.Asp360Tyr) c.878G>T (n.878G>T) c.817G>T (p.Asp273Tyr) c.757G>T (p.Asp253Tyr) | dbSNP |
| 17 | g.61799140C>G | CA400483485 | BRIP1 | c.793G>C (p.Asp265His) c.1300G>C (p.Asp434His) n.3041G>C c.1078G>C (p.Asp360His) c.878G>C (n.878G>C) c.817G>C (p.Asp273His) c.757G>C (p.Asp253His) | dbSNP |
| 17 | g.61799140C>T | CA400483486 | BRIP1 | c.793G>A (p.Asp265Asn) c.1300G>A (p.Asp434Asn) n.3041G>A c.1078G>A (p.Asp360Asn) c.878G>A (n.878G>A) c.817G>A (p.Asp273Asn) c.757G>A (p.Asp253Asn) | dbSNP |
| 17 | g.61799141T>A | CA400483487 | BRIP1 | c.792A>T (p.Lys264Asn) c.1299A>T (p.Lys433Asn) n.3040A>T c.1077A>T (p.Lys359Asn) c.877A>T (n.877A>T) c.816A>T (p.Lys272Asn) c.756A>T (p.Lys252Asn) | |
| 17 | g.61799141T>C | CA501151481 | BRIP1 | c.792A>G (p.Lys264=) c.1299A>G (p.Lys433=) n.3040A>G c.1077A>G (p.Lys359=) c.877A>G (n.877A>G) c.816A>G (p.Lys272=) c.756A>G (p.Lys252=) | ClinVar dbSNP |
| 17 | g.61799141T>G | CA400483489 | BRIP1 | c.792A>C (p.Lys264Asn) c.1299A>C (p.Lys433Asn) n.3040A>C c.1077A>C (p.Lys359Asn) c.877A>C (n.877A>C) c.816A>C (p.Lys272Asn) c.756A>C (p.Lys252Asn) | gnomAD v4 |
| 17 | g.61799143dup | CA645583907 | BRIP1 | c.792dup (p.Asp265ArgfsTer3) c.1299dup (p.Asp434ArgfsTer3) n.3040dup c.1077dup (p.Asp360ArgfsTer3) c.877dup (n.877dup) c.816dup (p.Asp273ArgfsTer3) c.756dup (p.Asp253ArgfsTer3) | COSMIC |
| 17 | g.61799142T>A | CA400483492 | BRIP1 | c.791A>T (p.Lys264Ile) c.1298A>T (p.Lys433Ile) n.3039A>T c.1076A>T (p.Lys359Ile) c.876A>T (n.876A>T) c.815A>T (p.Lys272Ile) c.755A>T (p.Lys252Ile) | dbSNP |
| 17 | g.61799142T>C | CA400483493 | BRIP1 | c.791A>G (p.Lys264Arg) c.1298A>G (p.Lys433Arg) n.3039A>G c.1076A>G (p.Lys359Arg) c.876A>G (n.876A>G) c.815A>G (p.Lys272Arg) c.755A>G (p.Lys252Arg) | |
| 17 | g.61799142T>G | CA400483491 | BRIP1 | c.791A>C (p.Lys264Thr) c.1298A>C (p.Lys433Thr) n.3039A>C c.1076A>C (p.Lys359Thr) c.876A>C (n.876A>C) c.815A>C (p.Lys272Thr) c.755A>C (p.Lys252Thr) | |
| 17 | g.61799143T>A | CA400483495 | BRIP1 | c.790A>T (p.Lys264Ter) c.1297A>T (p.Lys433Ter) n.3038A>T c.1075A>T (p.Lys359Ter) c.875A>T (n.875A>T) c.814A>T (p.Lys272Ter) c.754A>T (p.Lys252Ter) | |
| 17 | g.61799143T>C | CA400483494 | BRIP1 | c.790A>G (p.Lys264Glu) c.1297A>G (p.Lys433Glu) n.3038A>G c.1075A>G (p.Lys359Glu) c.875A>G (n.875A>G) c.814A>G (p.Lys272Glu) c.754A>G (p.Lys252Glu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.61799143T>G | CA400483496 | BRIP1 | c.790A>C (p.Lys264Gln) c.1297A>C (p.Lys433Gln) n.3038A>C c.1075A>C (p.Lys359Gln) c.875A>C (n.875A>C) c.814A>C (p.Lys272Gln) c.754A>C (p.Lys252Gln) | |
| 17 | g.61799143T= | CA2269178640 | BRIP1 | c.790A= (p.Lys264=) c.1297A= (p.Lys433=) n.3038A= c.1075A= (p.Lys359=) c.875A= (n.875A=) c.814A= (p.Lys272=) c.754A= (p.Lys252=) | |
| 17 | g.61799144C>A | CA400483497 | BRIP1 | c.789G>T (p.Lys263Asn) c.1296G>T (p.Lys432Asn) n.3037G>T c.1074G>T (p.Lys358Asn) c.874G>T (n.874G>T) c.813G>T (p.Lys271Asn) c.753G>T (p.Lys251Asn) | |
| 17 | g.61799144C= | CA2269178641 | BRIP1 | c.789G= (p.Lys263=) c.1296G= (p.Lys432=) n.3037G= c.1074G= (p.Lys358=) c.874G= (n.874G=) c.813G= (p.Lys271=) c.753G= (p.Lys251=) | |
| 17 | g.61799144C>G | CA400483499 | BRIP1 | c.789G>C (p.Lys263Asn) c.1296G>C (p.Lys432Asn) n.3037G>C c.1074G>C (p.Lys358Asn) c.874G>C (n.874G>C) c.813G>C (p.Lys271Asn) c.753G>C (p.Lys251Asn) | dbSNP |
| 17 | g.61799144C>T | CA8690767 | BRIP1 | c.789G>A (p.Lys263=) c.1296G>A (p.Lys432=) n.3037G>A c.1074G>A (p.Lys358=) c.874G>A (n.874G>A) c.813G>A (p.Lys271=) c.753G>A (p.Lys251=) | ClinVar dbSNP ExAC gnomAD v2 |
| 17 | g.61799147_61799150del | CA2733907776 | BRIP1 | c.786_789del (p.Lys264IlefsTer16) c.1293_1296del (p.Lys433IlefsTer16) c.1293_1296del (p.Lys433IlefsTer20) n.3034_3037del c.1071_1074del (p.Lys359IlefsTer16) c.871_874del (n.871_874del) c.810_813del (p.Lys272IlefsTer16) c.750_753del (p.Lys252IlefsTer16) | dbSNP |
| 17 | g.61799145T>A | CA400483500 | BRIP1 | c.788A>T (p.Lys263Met) c.1295A>T (p.Lys432Met) n.3036A>T c.1073A>T (p.Lys358Met) c.873A>T (n.873A>T) c.812A>T (p.Lys271Met) c.752A>T (p.Lys251Met) | dbSNP |
| 17 | g.61799145T>C | CA400483501 | BRIP1 | c.788A>G (p.Lys263Arg) c.1295A>G (p.Lys432Arg) n.3036A>G c.1073A>G (p.Lys358Arg) c.873A>G (n.873A>G) c.812A>G (p.Lys271Arg) c.752A>G (p.Lys251Arg) | |
| 17 | g.61799145T>G | CA400483502 | BRIP1 | c.788A>C (p.Lys263Thr) c.1295A>C (p.Lys432Thr) n.3036A>C c.1073A>C (p.Lys358Thr) c.873A>C (n.873A>C) c.812A>C (p.Lys271Thr) c.752A>C (p.Lys251Thr) | |
| 17 | g.61799146T>A | CA400483503 | BRIP1 | c.787A>T (p.Lys263Ter) c.1294A>T (p.Lys432Ter) n.3035A>T c.1072A>T (p.Lys358Ter) c.872A>T (n.872A>T) c.811A>T (p.Lys271Ter) c.751A>T (p.Lys251Ter) | ClinVar dbSNP |
| 17 | g.61799146T>C | CA400483504 | BRIP1 | c.787A>G (p.Lys263Glu) c.1294A>G (p.Lys432Glu) n.3035A>G c.1072A>G (p.Lys358Glu) c.872A>G (n.872A>G) c.811A>G (p.Lys271Glu) c.751A>G (p.Lys251Glu) | ClinVar dbSNP |
| 17 | g.61799146T>G | CA400483505 | BRIP1 | c.787A>C (p.Lys263Gln) c.1294A>C (p.Lys432Gln) n.3035A>C c.1072A>C (p.Lys358Gln) c.872A>C (n.872A>C) c.811A>C (p.Lys271Gln) c.751A>C (p.Lys251Gln) | |
| 17 | g.61799146T= | CA2269178642 | BRIP1 | c.787A= (p.Lys263=) c.1294A= (p.Lys432=) n.3035A= c.1072A= (p.Lys358=) c.872A= (n.872A=) c.811A= (p.Lys271=) c.751A= (p.Lys251=) | |
| 17 | g.61799147C>A | CA400483506 | BRIP1 | c.786G>T (p.Arg262Ser) c.1293G>T (p.Arg431Ser) n.3034G>T c.1071G>T (p.Arg357Ser) c.871G>T (n.871G>T) c.810G>T (p.Arg270Ser) c.750G>T (p.Arg250Ser) | dbSNP |
| 17 | g.61799147C= | CA2269178643 | BRIP1 | c.786G= (p.Arg262=) c.1293G= (p.Arg431=) n.3034G= c.1071G= (p.Arg357=) c.871G= (n.871G=) c.810G= (p.Arg270=) c.750G= (p.Arg250=) | |
| 17 | g.61799147C>G | CA400483507 | BRIP1 | c.786G>C (p.Arg262Ser) c.1293G>C (p.Arg431Ser) n.3034G>C c.1071G>C (p.Arg357Ser) c.871G>C (n.871G>C) c.810G>C (p.Arg270Ser) c.750G>C (p.Arg250Ser) | dbSNP |
| 17 | g.61799147C>T | CA501151486 | BRIP1 | c.786G>A (p.Arg262=) c.1293G>A (p.Arg431=) n.3034G>A c.1071G>A (p.Arg357=) c.871G>A (n.871G>A) c.810G>A (p.Arg270=) c.750G>A (p.Arg250=) | ClinVar dbSNP gnomAD v4 |
| 17 | g.61799148del | CA2580094476 | BRIP1 | c.786del (p.Lys263ArgfsTer18) c.1293del (p.Lys432ArgfsTer18) c.1293del (p.Lys432ArgfsTer22) n.3034del c.1071del (p.Lys358ArgfsTer18) c.871del (n.871del) c.810del (p.Lys271ArgfsTer18) c.750del (p.Lys251ArgfsTer18) | ClinVar |
| 17 | g.61799148C>A | CA400483508 | BRIP1 | c.785G>T (p.Arg262Met) c.1292G>T (p.Arg431Met) n.3033G>T c.1070G>T (p.Arg357Met) c.870G>T (n.870G>T) c.809G>T (p.Arg270Met) c.749G>T (p.Arg250Met) | |
| 17 | g.61799148C= | CA2269178644 | BRIP1 | c.785G= (p.Arg262=) c.1292G= (p.Arg431=) n.3033G= c.1070G= (p.Arg357=) c.870G= (n.870G=) c.809G= (p.Arg270=) c.749G= (p.Arg250=) | |
| 17 | g.61799148C>G | CA400483509 | BRIP1 | c.785G>C (p.Arg262Thr) c.1292G>C (p.Arg431Thr) n.3033G>C c.1070G>C (p.Arg357Thr) c.870G>C (n.870G>C) c.809G>C (p.Arg270Thr) c.749G>C (p.Arg250Thr) | dbSNP |
| 17 | g.61799148C>T | CA400483510 | BRIP1 | c.785G>A (p.Arg262Lys) c.1292G>A (p.Arg431Lys) n.3033G>A c.1070G>A (p.Arg357Lys) c.870G>A (n.870G>A) c.809G>A (p.Arg270Lys) c.749G>A (p.Arg250Lys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.61799149T>A | CA400483511 | BRIP1 | c.784A>T (p.Arg262Trp) c.1291A>T (p.Arg431Trp) n.3032A>T c.1069A>T (p.Arg357Trp) c.869A>T (n.869A>T) c.808A>T (p.Arg270Trp) c.748A>T (p.Arg250Trp) | ClinVar dbSNP |
| 17 | g.61799149T>C | CA400483512 | BRIP1 | c.784A>G (p.Arg262Gly) c.1291A>G (p.Arg431Gly) n.3032A>G c.1069A>G (p.Arg357Gly) c.869A>G (n.869A>G) c.808A>G (p.Arg270Gly) c.748A>G (p.Arg250Gly) | dbSNP |
| 17 | g.61799149T>G | CA501151487 | BRIP1 | c.784A>C (p.Arg262=) c.1291A>C (p.Arg431=) n.3032A>C c.1069A>C (p.Arg357=) c.869A>C (n.869A>C) c.808A>C (p.Arg270=) c.748A>C (p.Arg250=) | |
| 17 | g.61799150del | CA2740093896 | BRIP1 | c.784del (p.Arg262GlyfsTer19) c.1291del (p.Arg431GlyfsTer19) c.1291del (p.Arg431GlyfsTer23) n.3032del c.1069del (p.Arg357GlyfsTer19) c.869del (n.869del) c.808del (p.Arg270GlyfsTer19) c.748del (p.Arg250GlyfsTer19) | ClinVar |
| 17 | g.61799153_61799157del | CA2582342224 | BRIP1 | c.780_784del (p.Asn260LysfsTer6) c.1287_1291del (p.Asn429LysfsTer6) n.3028_3032del c.1065_1069del (p.Asn355LysfsTer6) c.865_869del (n.865_869del) c.804_808del (p.Asn268LysfsTer6) c.744_748del (p.Asn248LysfsTer6) | ClinVar |
| 17 | g.61799150T>A | CA501151489 | BRIP1 | c.783A>T (p.Ile261=) c.1290A>T (p.Ile430=) n.3031A>T c.1068A>T (p.Ile356=) c.868A>T (n.868A>T) c.807A>T (p.Ile269=) c.747A>T (p.Ile249=) | dbSNP |
| 17 | g.61799150T>C | CA400483513 | BRIP1 | c.783A>G (p.Ile261Met) c.1290A>G (p.Ile430Met) n.3031A>G c.1068A>G (p.Ile356Met) c.868A>G (n.868A>G) c.807A>G (p.Ile269Met) c.747A>G (p.Ile249Met) | |
| 17 | g.61799150T>G | CA501151490 | BRIP1 | c.783A>C (p.Ile261=) c.1290A>C (p.Ile430=) n.3031A>C c.1068A>C (p.Ile356=) c.868A>C (n.868A>C) c.807A>C (p.Ile269=) c.747A>C (p.Ile249=) | |
| 17 | g.61799153_61799154dup | CA2580613194 | BRIP1 | c.782_783dup (p.Arg262Ter) c.1289_1290dup (p.Arg431Ter) n.3030_3031dup c.1067_1068dup (p.Arg357Ter) c.867_868dup (n.867_868dup) c.806_807dup (p.Arg270Ter) c.746_747dup (p.Arg250Ter) | ClinVar dbSNP |
| 17 | g.61799151del | CA645583908 | BRIP1 | c.782del (p.Ile261LysfsTer20) c.1289del (p.Ile430LysfsTer20) c.1289del (p.Ile430LysfsTer24) n.3030del c.1067del (p.Ile356LysfsTer20) c.867del (n.867del) c.806del (p.Ile269LysfsTer20) c.746del (p.Ile249LysfsTer20) | COSMIC COSMIC |
| 17 | g.61799151A= | CA2269178645 | BRIP1 | c.782T= (p.Ile261=) c.1289T= (p.Ile430=) n.3030T= c.1067T= (p.Ile356=) c.867T= (n.867T=) c.806T= (p.Ile269=) c.746T= (p.Ile249=) | |
| 17 | g.61799151A>C | CA400483514 | BRIP1 | c.782T>G (p.Ile261Arg) c.1289T>G (p.Ile430Arg) n.3030T>G c.1067T>G (p.Ile356Arg) c.867T>G (n.867T>G) c.806T>G (p.Ile269Arg) c.746T>G (p.Ile249Arg) | |
| 17 | g.61799151A>G | CA400483515 | BRIP1 | c.782T>C (p.Ile261Thr) c.1289T>C (p.Ile430Thr) n.3030T>C c.1067T>C (p.Ile356Thr) c.867T>C (n.867T>C) c.806T>C (p.Ile269Thr) c.746T>C (p.Ile249Thr) | ClinVar dbSNP gnomAD v4 |
| 17 | g.61799151A>T | CA400483516 | BRIP1 | c.782T>A (p.Ile261Lys) c.1289T>A (p.Ile430Lys) n.3030T>A c.1067T>A (p.Ile356Lys) c.867T>A (n.867T>A) c.806T>A (p.Ile269Lys) c.746T>A (p.Ile249Lys) | ClinVar dbSNP |
| 17 | g.61799152T>A | CA400483517 | BRIP1 | c.781A>T (p.Ile261Leu) c.1288A>T (p.Ile430Leu) n.3029A>T c.1066A>T (p.Ile356Leu) c.866A>T (n.866A>T) c.805A>T (p.Ile269Leu) c.745A>T (p.Ile249Leu) | ClinVar dbSNP |
| 17 | g.61799152T>C | CA400483518 | BRIP1 | c.781A>G (p.Ile261Val) c.1288A>G (p.Ile430Val) n.3029A>G c.1066A>G (p.Ile356Val) c.866A>G (n.866A>G) c.805A>G (p.Ile269Val) c.745A>G (p.Ile249Val) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
| 17 | g.61799152T>G | CA400483519 | BRIP1 | c.781A>C (p.Ile261Leu) c.1288A>C (p.Ile430Leu) n.3029A>C c.1066A>C (p.Ile356Leu) c.866A>C (n.866A>C) c.805A>C (p.Ile269Leu) c.745A>C (p.Ile249Leu) | |
| 17 | g.61799152T= | CA2269178646 | BRIP1 | c.781A= (p.Ile261=) c.1288A= (p.Ile430=) n.3029A= c.1066A= (p.Ile356=) c.866A= (n.866A=) c.805A= (p.Ile269=) c.745A= (p.Ile249=) | |
| 17 | g.61799156_61799158del | CA2580613195 | BRIP1 | c.779_781del (p.Asn260del) c.1286_1288del (p.Asn429del) n.3027_3029del c.1064_1066del (p.Asn355del) c.864_866del (n.864_866del) c.803_805del (p.Asn268del) c.743_745del (p.Asn248del) | ClinVar |
| 17 | g.61799153A= | CA2269178647 | BRIP1 | c.780T= (p.Asn260=) c.1287T= (p.Asn429=) n.3028T= c.1065T= (p.Asn355=) c.865T= (n.865T=) c.804T= (p.Asn268=) c.744T= (p.Asn248=) | |
| 17 | g.61799153A>C | CA400483520 | BRIP1 | c.780T>G (p.Asn260Lys) c.1287T>G (p.Asn429Lys) n.3028T>G c.1065T>G (p.Asn355Lys) c.865T>G (n.865T>G) c.804T>G (p.Asn268Lys) c.744T>G (p.Asn248Lys) | |
| 17 | g.61799153A>G | CA336691 | BRIP1 | c.780T>C (p.Asn260=) c.1287T>C (p.Asn429=) n.3028T>C c.1065T>C (p.Asn355=) c.865T>C (n.865T>C) c.804T>C (p.Asn268=) c.744T>C (p.Asn248=) | ClinVar dbSNP gnomAD v4 |
| 17 | g.61799153A>T | CA400483521 | BRIP1 | c.780T>A (p.Asn260Lys) c.1287T>A (p.Asn429Lys) n.3028T>A c.1065T>A (p.Asn355Lys) c.865T>A (n.865T>A) c.804T>A (p.Asn268Lys) c.744T>A (p.Asn248Lys) | |
| 17 | g.61799154T>A | CA400483522 | BRIP1 | c.779A>T (p.Asn260Ile) c.1286A>T (p.Asn429Ile) n.3027A>T c.1064A>T (p.Asn355Ile) c.864A>T (n.864A>T) c.803A>T (p.Asn268Ile) c.743A>T (p.Asn248Ile) | dbSNP |
| 17 | g.61799154T>C | CA400483523 | BRIP1 | c.779A>G (p.Asn260Ser) c.1286A>G (p.Asn429Ser) n.3027A>G c.1064A>G (p.Asn355Ser) c.864A>G (n.864A>G) c.803A>G (p.Asn268Ser) c.743A>G (p.Asn248Ser) | ClinVar dbSNP |
| 17 | g.61799154T>G | CA164347 | BRIP1 | c.779A>C (p.Asn260Thr) c.1286A>C (p.Asn429Thr) n.3027A>C c.1064A>C (p.Asn355Thr) c.864A>C (n.864A>C) c.803A>C (p.Asn268Thr) c.743A>C (p.Asn248Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.61799154T= | CA2269178648 | BRIP1 | c.779A= (p.Asn260=) c.1286A= (p.Asn429=) n.3027A= c.1064A= (p.Asn355=) c.864A= (n.864A=) c.803A= (p.Asn268=) c.743A= (p.Asn248=) | |
| 17 | g.61799155del | CA2733907790 | BRIP1 | c.779del (p.Asn260IlefsTer2) c.1286del (p.Asn429IlefsTer2) n.3027del c.1064del (p.Asn355IlefsTer2) c.864del (n.864del) c.803del (p.Asn268IlefsTer2) c.743del (p.Asn248IlefsTer2) | dbSNP |
| 17 | g.61799155T>A | CA400483524 | BRIP1 | c.778A>T (p.Asn260Tyr) c.1285A>T (p.Asn429Tyr) n.3026A>T c.1063A>T (p.Asn355Tyr) c.863A>T (n.863A>T) c.802A>T (p.Asn268Tyr) c.742A>T (p.Asn248Tyr) | dbSNP |
| 17 | g.61799155T>C | CA400483526 | BRIP1 | c.778A>G (p.Asn260Asp) c.1285A>G (p.Asn429Asp) n.3026A>G c.1063A>G (p.Asn355Asp) c.863A>G (n.863A>G) c.802A>G (p.Asn268Asp) c.742A>G (p.Asn248Asp) | ClinVar dbSNP gnomAD v4 |
| 17 | g.61799155T>G | CA400483525 | BRIP1 | c.778A>C (p.Asn260His) c.1285A>C (p.Asn429His) n.3026A>C c.1063A>C (p.Asn355His) c.863A>C (n.863A>C) c.802A>C (p.Asn268His) c.742A>C (p.Asn248His) | ClinVar |
| 17 | g.61799155T= | CA2269178649 | BRIP1 | c.778A= (p.Asn260=) c.1285A= (p.Asn429=) n.3026A= c.1063A= (p.Asn355=) c.863A= (n.863A=) c.802A= (p.Asn268=) c.742A= (p.Asn248=) | |
| 17 | g.61799156A>C | CA400483527 | BRIP1 | c.777T>G (p.Asn259Lys) c.1284T>G (p.Asn428Lys) n.3025T>G c.1062T>G (p.Asn354Lys) c.862T>G (n.862T>G) c.801T>G (p.Asn267Lys) c.741T>G (p.Asn247Lys) | |
| 17 | g.61799156A>G | CA501151493 | BRIP1 | c.777T>C (p.Asn259=) c.1284T>C (p.Asn428=) n.3025T>C c.1062T>C (p.Asn354=) c.862T>C (n.862T>C) c.801T>C (p.Asn267=) c.741T>C (p.Asn247=) | ClinVar |
| 17 | g.61799156A>T | CA400483528 | BRIP1 | c.777T>A (p.Asn259Lys) c.1284T>A (p.Asn428Lys) n.3025T>A c.1062T>A (p.Asn354Lys) c.862T>A (n.862T>A) c.801T>A (p.Asn267Lys) c.741T>A (p.Asn247Lys) | dbSNP |
| 17 | g.61799157T>A | CA400483529 | BRIP1 | c.776A>T (p.Asn259Ile) c.1283A>T (p.Asn428Ile) n.3024A>T c.1061A>T (p.Asn354Ile) c.861A>T (n.861A>T) c.800A>T (p.Asn267Ile) c.740A>T (p.Asn247Ile) | |
| 17 | g.61799157T>C | CA400483530 | BRIP1 | c.776A>G (p.Asn259Ser) c.1283A>G (p.Asn428Ser) n.3024A>G c.1061A>G (p.Asn354Ser) c.861A>G (n.861A>G) c.800A>G (p.Asn267Ser) c.740A>G (p.Asn247Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.61799157T>G | CA8690768 | BRIP1 | c.776A>C (p.Asn259Thr) c.1283A>C (p.Asn428Thr) n.3024A>C c.1061A>C (p.Asn354Thr) c.861A>C (n.861A>C) c.800A>C (p.Asn267Thr) c.740A>C (p.Asn247Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.61799157T= | CA2269178650 | BRIP1 | c.776A= (p.Asn259=) c.1283A= (p.Asn428=) n.3024A= c.1061A= (p.Asn354=) c.861A= (n.861A=) c.800A= (p.Asn267=) c.740A= (p.Asn247=) | |
| 17 | g.61799158T>A | CA400483531 | BRIP1 | c.775A>T (p.Asn259Tyr) c.1282A>T (p.Asn428Tyr) n.3023A>T c.1060A>T (p.Asn354Tyr) c.860A>T (n.860A>T) c.799A>T (p.Asn267Tyr) c.739A>T (p.Asn247Tyr) | |
| 17 | g.61799158T>C | CA400483532 | BRIP1 | c.775A>G (p.Asn259Asp) c.1282A>G (p.Asn428Asp) n.3023A>G c.1060A>G (p.Asn354Asp) c.860A>G (n.860A>G) c.799A>G (p.Asn267Asp) c.739A>G (p.Asn247Asp) | ClinVar |
| 17 | g.61799158T>G | CA400483533 | BRIP1 | c.775A>C (p.Asn259His) c.1282A>C (p.Asn428His) n.3023A>C c.1060A>C (p.Asn354His) c.860A>C (n.860A>C) c.799A>C (p.Asn267His) c.739A>C (p.Asn247His) | |
| 17 | g.61799159G>A | CA501151494 | BRIP1 | c.774C>T (p.Asn258=) c.1281C>T (p.Asn427=) n.3022C>T c.1059C>T (p.Asn353=) c.859C>T (n.859C>T) c.798C>T (p.Asn266=) c.738C>T (p.Asn246=) | ClinVar dbSNP gnomAD v4 |
| 17 | g.61799159G>C | CA400483534 | BRIP1 | c.774C>G (p.Asn258Lys) c.1281C>G (p.Asn427Lys) n.3022C>G c.1059C>G (p.Asn353Lys) c.859C>G (n.859C>G) c.798C>G (p.Asn266Lys) c.738C>G (p.Asn246Lys) | dbSNP |
| 17 | g.61799159G>T | CA400483535 | BRIP1 | c.774C>A (p.Asn258Lys) c.1281C>A (p.Asn427Lys) n.3022C>A c.1059C>A (p.Asn353Lys) c.859C>A (n.859C>A) c.798C>A (p.Asn266Lys) c.738C>A (p.Asn246Lys) | |
| 17 | g.61799160T>A | CA400483536 | BRIP1 | c.773A>T (p.Asn258Ile) c.1280A>T (p.Asn427Ile) n.3021A>T c.1058A>T (p.Asn353Ile) c.858A>T (n.858A>T) c.797A>T (p.Asn266Ile) c.737A>T (p.Asn246Ile) | dbSNP |
| 17 | g.61799160T>C | CA400483537 | BRIP1 | c.773A>G (p.Asn258Ser) c.1280A>G (p.Asn427Ser) n.3021A>G c.1058A>G (p.Asn353Ser) c.858A>G (n.858A>G) c.797A>G (p.Asn266Ser) c.737A>G (p.Asn246Ser) | ClinVar dbSNP COSMIC COSMIC |
| 17 | g.61799160T>G | CA400483538 | BRIP1 | c.773A>C (p.Asn258Thr) c.1280A>C (p.Asn427Thr) n.3021A>C c.1058A>C (p.Asn353Thr) c.858A>C (n.858A>C) c.797A>C (p.Asn266Thr) c.737A>C (p.Asn246Thr) | |
| 17 | g.61799160T= | CA2269178651 | BRIP1 | c.773A= (p.Asn258=) c.1280A= (p.Asn427=) n.3021A= c.1058A= (p.Asn353=) c.858A= (n.858A=) c.797A= (p.Asn266=) c.737A= (p.Asn246=) | |
| 17 | g.61799161T>A | CA400483541 | BRIP1 | c.772A>T (p.Asn258Tyr) c.1279A>T (p.Asn427Tyr) n.3020A>T c.1057A>T (p.Asn353Tyr) c.857A>T (n.857A>T) c.796A>T (p.Asn266Tyr) c.736A>T (p.Asn246Tyr) | |
| 17 | g.61799161T>C | CA400483539 | BRIP1 | c.772A>G (p.Asn258Asp) c.1279A>G (p.Asn427Asp) n.3020A>G c.1057A>G (p.Asn353Asp) c.857A>G (n.857A>G) c.796A>G (p.Asn266Asp) c.736A>G (p.Asn246Asp) | |
| 17 | g.61799161T>G | CA400483540 | BRIP1 | c.772A>C (p.Asn258His) c.1279A>C (p.Asn427His) n.3020A>C c.1057A>C (p.Asn353His) c.857A>C (n.857A>C) c.796A>C (p.Asn266His) c.736A>C (p.Asn246His) | |
| 17 | g.61799161T= | CA2269178652 | BRIP1 | c.772A= (p.Asn258=) c.1279A= (p.Asn427=) n.3020A= c.1057A= (p.Asn353=) c.857A= (n.857A=) c.796A= (p.Asn266=) c.736A= (p.Asn246=) | |
| 17 | g.61799162G>A | CA501151497 | BRIP1 | c.771C>T (p.Val257=) c.1278C>T (p.Val426=) n.3019C>T c.1056C>T (p.Val352=) c.856C>T (n.856C>T) c.795C>T (p.Val265=) c.735C>T (p.Val245=) | dbSNP |
| 17 | g.61799162G>C | CA501151498 | BRIP1 | c.771C>G (p.Val257=) c.1278C>G (p.Val426=) n.3019C>G c.1056C>G (p.Val352=) c.856C>G (n.856C>G) c.795C>G (p.Val265=) c.735C>G (p.Val245=) | dbSNP |
| 17 | g.61799162G= | CA2269178653 | BRIP1 | c.771C= (p.Val257=) c.1278C= (p.Val426=) n.3019C= c.1056C= (p.Val352=) c.856C= (n.856C=) c.795C= (p.Val265=) c.735C= (p.Val245=) | |
| 17 | g.61799162G>T | CA501151499 | BRIP1 | c.771C>A (p.Val257=) c.1278C>A (p.Val426=) n.3019C>A c.1056C>A (p.Val352=) c.856C>A (n.856C>A) c.795C>A (p.Val265=) c.735C>A (p.Val245=) | dbSNP |
| 17 | g.61799164_61799186dup | CA2269178654 | BRIP1 | c.749_771dup (p.Asn258GlyfsTer4) c.1256_1278dup (p.Asn427GlyfsTer4) n.2997_3019dup c.1034_1056dup (p.Asn353GlyfsTer4) c.834_856dup (n.834_856dup) c.773_795dup (p.Asn266GlyfsTer4) c.713_735dup (p.Asn246GlyfsTer4) | ClinVar dbSNP |
| 17 | g.61799163A= | CA2269178655 | BRIP1 | c.770T= (p.Val257=) c.1277T= (p.Val426=) n.3018T= c.1055T= (p.Val352=) c.855T= (n.855T=) c.794T= (p.Val265=) c.734T= (p.Val245=) | |
| 17 | g.61799163A>C | CA400483542 | BRIP1 | c.770T>G (p.Val257Gly) c.1277T>G (p.Val426Gly) n.3018T>G c.1055T>G (p.Val352Gly) c.855T>G (n.855T>G) c.794T>G (p.Val265Gly) c.734T>G (p.Val245Gly) | ClinVar dbSNP |
| 17 | g.61799163A>G | CA400483543 | BRIP1 | c.770T>C (p.Val257Ala) c.1277T>C (p.Val426Ala) n.3018T>C c.1055T>C (p.Val352Ala) c.855T>C (n.855T>C) c.794T>C (p.Val265Ala) c.734T>C (p.Val245Ala) | |
| 17 | g.61799163A>T | CA400483544 | BRIP1 | c.770T>A (p.Val257Asp) c.1277T>A (p.Val426Asp) n.3018T>A c.1055T>A (p.Val352Asp) c.855T>A (n.855T>A) c.794T>A (p.Val265Asp) c.734T>A (p.Val245Asp) | ClinVar |
| 17 | g.61799164C>A | CA400483545 | BRIP1 | c.769G>T (p.Val257Phe) c.1276G>T (p.Val426Phe) n.3017G>T c.1054G>T (p.Val352Phe) c.854G>T (n.854G>T) c.793G>T (p.Val265Phe) c.733G>T (p.Val245Phe) | dbSNP |
| 17 | g.61799164C>G | CA400483546 | BRIP1 | c.769G>C (p.Val257Leu) c.1276G>C (p.Val426Leu) n.3017G>C c.1054G>C (p.Val352Leu) c.854G>C (n.854G>C) c.793G>C (p.Val265Leu) c.733G>C (p.Val245Leu) | dbSNP |
| 17 | g.61799164C>T | CA400483547 | BRIP1 | c.769G>A (p.Val257Ile) c.1276G>A (p.Val426Ile) n.3017G>A c.1054G>A (p.Val352Ile) c.854G>A (n.854G>A) c.793G>A (p.Val265Ile) c.733G>A (p.Val245Ile) | dbSNP |
| 17 | g.61799165del | CA2733907792 | BRIP1 | c.769del (p.Val257SerfsTer5) c.1276del (p.Val426SerfsTer5) n.3017del c.1054del (p.Val352SerfsTer5) c.854del (n.854del) c.793del (p.Val265SerfsTer5) c.733del (p.Val245SerfsTer5) | dbSNP |
| 17 | g.61799165C>A | CA400483548 | BRIP1 | c.768G>T (p.Met256Ile) c.1275G>T (p.Met425Ile) n.3016G>T c.1053G>T (p.Met351Ile) c.853G>T (n.853G>T) c.792G>T (p.Met264Ile) c.732G>T (p.Met244Ile) | |
| 17 | g.61799165C= | CA2269178656 | BRIP1 | c.768G= (p.Met256=) c.1275G= (p.Met425=) n.3016G= c.1053G= (p.Met351=) c.853G= (n.853G=) c.792G= (p.Met264=) c.732G= (p.Met244=) | |
| 17 | g.61799165C>G | CA400483549 | BRIP1 | c.768G>C (p.Met256Ile) c.1275G>C (p.Met425Ile) n.3016G>C c.1053G>C (p.Met351Ile) c.853G>C (n.853G>C) c.792G>C (p.Met264Ile) c.732G>C (p.Met244Ile) | dbSNP |
| 17 | g.61799165C>T | CA400483550 | BRIP1 | c.768G>A (p.Met256Ile) c.1275G>A (p.Met425Ile) n.3016G>A c.1053G>A (p.Met351Ile) c.853G>A (n.853G>A) c.792G>A (p.Met264Ile) c.732G>A (p.Met244Ile) | ClinVar dbSNP |
| 17 | g.61799166A= | CA2269178657 | BRIP1 | c.767T= (p.Met256=) c.1274T= (p.Met425=) n.3015T= c.1052T= (p.Met351=) c.852T= (n.852T=) c.791T= (p.Met264=) c.731T= (p.Met244=) | |
| 17 | g.61799166A>C | CA400483551 | BRIP1 | c.767T>G (p.Met256Arg) c.1274T>G (p.Met425Arg) n.3015T>G c.1052T>G (p.Met351Arg) c.852T>G (n.852T>G) c.791T>G (p.Met264Arg) c.731T>G (p.Met244Arg) | |
| 17 | g.61799166A>G | CA400483552 | BRIP1 | c.767T>C (p.Met256Thr) c.1274T>C (p.Met425Thr) n.3015T>C c.1052T>C (p.Met351Thr) c.852T>C (n.852T>C) c.791T>C (p.Met264Thr) c.731T>C (p.Met244Thr) | ClinVar |
| 17 | g.61799166A>T | CA400483553 | BRIP1 | c.767T>A (p.Met256Lys) c.1274T>A (p.Met425Lys) n.3015T>A c.1052T>A (p.Met351Lys) c.852T>A (n.852T>A) c.791T>A (p.Met264Lys) c.731T>A (p.Met244Lys) | ClinVar dbSNP gnomAD v4 |
| 17 | g.61799167T>A | CA400483554 | BRIP1 | c.766A>T (p.Met256Leu) c.1273A>T (p.Met425Leu) n.3014A>T c.1051A>T (p.Met351Leu) c.851A>T (n.851A>T) c.790A>T (p.Met264Leu) c.730A>T (p.Met244Leu) | dbSNP |
| 17 | g.61799167T>C | CA400483556 | BRIP1 | c.766A>G (p.Met256Val) c.1273A>G (p.Met425Val) n.3014A>G c.1051A>G (p.Met351Val) c.851A>G (n.851A>G) c.790A>G (p.Met264Val) c.730A>G (p.Met244Val) | ClinVar dbSNP gnomAD v4 |
| 17 | g.61799167T>G | CA400483555 | BRIP1 | c.766A>C (p.Met256Leu) c.1273A>C (p.Met425Leu) n.3014A>C c.1051A>C (p.Met351Leu) c.851A>C (n.851A>C) c.790A>C (p.Met264Leu) c.730A>C (p.Met244Leu) | |
| 17 | g.61799167T= | CA2269178658 | BRIP1 | c.766A= (p.Met256=) c.1273A= (p.Met425=) n.3014A= c.1051A= (p.Met351=) c.851A= (n.851A=) c.790A= (p.Met264=) c.730A= (p.Met244=) | |
| 17 | g.61799168A>C | CA400483557 | BRIP1 | c.765T>G (p.Ser255Arg) c.1272T>G (p.Ser424Arg) n.3013T>G c.1050T>G (p.Ser350Arg) c.850T>G (n.850T>G) c.789T>G (p.Ser263Arg) c.729T>G (p.Ser243Arg) | |
| 17 | g.61799168A>G | CA501151503 | BRIP1 | c.765T>C (p.Ser255=) c.1272T>C (p.Ser424=) n.3013T>C c.1050T>C (p.Ser350=) c.850T>C (n.850T>C) c.789T>C (p.Ser263=) c.729T>C (p.Ser243=) | ClinVar |
| 17 | g.61799168A>T | CA400483558 | BRIP1 | c.765T>A (p.Ser255Arg) c.1272T>A (p.Ser424Arg) n.3013T>A c.1050T>A (p.Ser350Arg) c.850T>A (n.850T>A) c.789T>A (p.Ser263Arg) c.729T>A (p.Ser243Arg) | dbSNP |
| 17 | g.61799169C>A | CA400483559 | BRIP1 | c.764G>T (p.Ser255Ile) c.1271G>T (p.Ser424Ile) n.3012G>T c.1049G>T (p.Ser350Ile) c.849G>T (n.849G>T) c.788G>T (p.Ser263Ile) c.728G>T (p.Ser243Ile) | dbSNP |
| 17 | g.61799169C= | CA2269178659 | BRIP1 | c.764G= (p.Ser255=) c.1271G= (p.Ser424=) n.3012G= c.1049G= (p.Ser350=) c.849G= (n.849G=) c.788G= (p.Ser263=) c.728G= (p.Ser243=) | |
| 17 | g.61799169C>G | CA400483560 | BRIP1 | c.764G>C (p.Ser255Thr) c.1271G>C (p.Ser424Thr) n.3012G>C c.1049G>C (p.Ser350Thr) c.849G>C (n.849G>C) c.788G>C (p.Ser263Thr) c.728G>C (p.Ser243Thr) | dbSNP |
| 17 | g.61799169C>T | CA400483561 | BRIP1 | c.764G>A (p.Ser255Asn) c.1271G>A (p.Ser424Asn) n.3012G>A c.1049G>A (p.Ser350Asn) c.849G>A (n.849G>A) c.788G>A (p.Ser263Asn) c.728G>A (p.Ser243Asn) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.61799169_61799170del | CA2573154310 | BRIP1 | c.763_764del (p.Ser255TyrfsTer5) c.1270_1271del (p.Ser424TyrfsTer5) n.3011_3012del c.1048_1049del (p.Ser350TyrfsTer5) c.848_849del (n.848_849del) c.787_788del (p.Ser263TyrfsTer5) c.727_728del (p.Ser243TyrfsTer5) | ClinVar dbSNP |
| 17 | g.61799170T>A | CA400483562 | BRIP1 | c.763A>T (p.Ser255Cys) c.1270A>T (p.Ser424Cys) n.3011A>T c.1048A>T (p.Ser350Cys) c.848A>T (n.848A>T) c.787A>T (p.Ser263Cys) c.727A>T (p.Ser243Cys) | dbSNP |
| 17 | g.61799170T>C | CA292285674 | BRIP1 | c.763A>G (p.Ser255Gly) c.1270A>G (p.Ser424Gly) n.3011A>G c.1048A>G (p.Ser350Gly) c.848A>G (n.848A>G) c.787A>G (p.Ser263Gly) c.727A>G (p.Ser243Gly) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.61799170T>G | CA400483563 | BRIP1 | c.763A>C (p.Ser255Arg) c.1270A>C (p.Ser424Arg) n.3011A>C c.1048A>C (p.Ser350Arg) c.848A>C (n.848A>C) c.787A>C (p.Ser263Arg) c.727A>C (p.Ser243Arg) | ClinVar dbSNP |
| 17 | g.61799170T= | CA2269178660 | BRIP1 | c.763A= (p.Ser255=) c.1270A= (p.Ser424=) n.3011A= c.1048A= (p.Ser350=) c.848A= (n.848A=) c.787A= (p.Ser263=) c.727A= (p.Ser243=) | |
| 17 | g.61799171A= | CA2269178661 | BRIP1 | c.762T= (p.Asp254=) c.1269T= (p.Asp423=) n.3010T= c.1047T= (p.Asp349=) c.847T= (n.847T=) c.786T= (p.Asp262=) c.726T= (p.Asp242=) | |
| 17 | g.61799171A>C | CA400483565 | BRIP1 | c.762T>G (p.Asp254Glu) c.1269T>G (p.Asp423Glu) n.3010T>G c.1047T>G (p.Asp349Glu) c.847T>G (n.847T>G) c.786T>G (p.Asp262Glu) c.726T>G (p.Asp242Glu) | |
| 17 | g.61799171A>G | CA292285676 | BRIP1 | c.762T>C (p.Asp254=) c.1269T>C (p.Asp423=) n.3010T>C c.1047T>C (p.Asp349=) c.847T>C (n.847T>C) c.786T>C (p.Asp262=) c.726T>C (p.Asp242=) | ClinVar dbSNP |
| 17 | g.61799171A>T | CA400483564 | BRIP1 | c.762T>A (p.Asp254Glu) c.1269T>A (p.Asp423Glu) n.3010T>A c.1047T>A (p.Asp349Glu) c.847T>A (n.847T>A) c.786T>A (p.Asp262Glu) c.726T>A (p.Asp242Glu) | dbSNP |
| 17 | g.61799172T>A | CA400483566 | BRIP1 | c.761A>T (p.Asp254Val) c.1268A>T (p.Asp423Val) n.3009A>T c.1046A>T (p.Asp349Val) c.846A>T (n.846A>T) c.785A>T (p.Asp262Val) c.725A>T (p.Asp242Val) | |
| 17 | g.61799172T>C | CA8690769 | BRIP1 | c.761A>G (p.Asp254Gly) c.1268A>G (p.Asp423Gly) n.3009A>G c.1046A>G (p.Asp349Gly) c.846A>G (n.846A>G) c.785A>G (p.Asp262Gly) c.725A>G (p.Asp242Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.61799172T>G | CA400483567 | BRIP1 | c.761A>C (p.Asp254Ala) c.1268A>C (p.Asp423Ala) n.3009A>C c.1046A>C (p.Asp349Ala) c.846A>C (n.846A>C) c.785A>C (p.Asp262Ala) c.725A>C (p.Asp242Ala) | ClinVar dbSNP gnomAD v4 |
| 17 | g.61799172T= | CA2269178662 | BRIP1 | c.761A= (p.Asp254=) c.1268A= (p.Asp423=) n.3009A= c.1046A= (p.Asp349=) c.846A= (n.846A=) c.785A= (p.Asp262=) c.725A= (p.Asp242=) | |
| 17 | g.61799173C>A | CA400483568 | BRIP1 | c.760G>T (p.Asp254Tyr) c.1267G>T (p.Asp423Tyr) n.3008G>T c.1045G>T (p.Asp349Tyr) c.845G>T (n.845G>T) c.784G>T (p.Asp262Tyr) c.724G>T (p.Asp242Tyr) | |
| 17 | g.61799173C= | CA2269178663 | BRIP1 | c.760G= (p.Asp254=) c.1267G= (p.Asp423=) n.3008G= c.1045G= (p.Asp349=) c.845G= (n.845G=) c.784G= (p.Asp262=) c.724G= (p.Asp242=) | |
| 17 | g.61799173C>G | CA400483569 | BRIP1 | c.760G>C (p.Asp254His) c.1267G>C (p.Asp423His) n.3008G>C c.1045G>C (p.Asp349His) c.845G>C (n.845G>C) c.784G>C (p.Asp262His) c.724G>C (p.Asp242His) | ClinVar dbSNP |
| 17 | g.61799173C>T | CA400483570 | BRIP1 | c.760G>A (p.Asp254Asn) c.1267G>A (p.Asp423Asn) n.3008G>A c.1045G>A (p.Asp349Asn) c.845G>A (n.845G>A) c.784G>A (p.Asp262Asn) c.724G>A (p.Asp242Asn) | dbSNP |
| 17 | g.61799174T>A | CA501151506 | BRIP1 | c.759A>T (p.Leu253=) c.1266A>T (p.Leu422=) n.3007A>T c.1044A>T (p.Leu348=) c.844A>T (n.844A>T) c.783A>T (p.Leu261=) c.723A>T (p.Leu241=) | ClinVar dbSNP gnomAD v4 |
| 17 | g.61799174T>C | CA501151507 | BRIP1 | c.759A>G (p.Leu253=) c.1266A>G (p.Leu422=) n.3007A>G c.1044A>G (p.Leu348=) c.844A>G (n.844A>G) c.783A>G (p.Leu261=) c.723A>G (p.Leu241=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.61799174T>G | CA501151508 | BRIP1 | c.759A>C (p.Leu253=) c.1266A>C (p.Leu422=) n.3007A>C c.1044A>C (p.Leu348=) c.844A>C (n.844A>C) c.783A>C (p.Leu261=) c.723A>C (p.Leu241=) | ClinVar dbSNP |
| 17 | g.61799174T= | CA2269178664 | BRIP1 | c.759A= (p.Leu253=) c.1266A= (p.Leu422=) n.3007A= c.1044A= (p.Leu348=) c.844A= (n.844A=) c.783A= (p.Leu261=) c.723A= (p.Leu241=) | |
| 17 | g.61799175A>C | CA400483571 | BRIP1 | c.758T>G (p.Leu253Arg) c.1265T>G (p.Leu422Arg) n.3006T>G c.1043T>G (p.Leu348Arg) c.843T>G (n.843T>G) c.782T>G (p.Leu261Arg) c.722T>G (p.Leu241Arg) | |
| 17 | g.61799175A>G | CA400483573 | BRIP1 | c.758T>C (p.Leu253Pro) c.1265T>C (p.Leu422Pro) n.3006T>C c.1043T>C (p.Leu348Pro) c.843T>C (n.843T>C) c.782T>C (p.Leu261Pro) c.722T>C (p.Leu241Pro) | |
| 17 | g.61799175A>T | CA400483572 | BRIP1 | c.758T>A (p.Leu253Gln) c.1265T>A (p.Leu422Gln) n.3006T>A c.1043T>A (p.Leu348Gln) c.843T>A (n.843T>A) c.782T>A (p.Leu261Gln) c.722T>A (p.Leu241Gln) | dbSNP |
| 17 | g.61799176G>A | CA501151509 | BRIP1 | c.757C>T (p.Leu253=) c.1264C>T (p.Leu422=) n.3005C>T c.1042C>T (p.Leu348=) c.842C>T (n.842C>T) c.781C>T (p.Leu261=) c.721C>T (p.Leu241=) | ClinVar dbSNP gnomAD v4 |
| 17 | g.61799176G>C | CA400483574 | BRIP1 | c.757C>G (p.Leu253Val) c.1264C>G (p.Leu422Val) n.3005C>G c.1042C>G (p.Leu348Val) c.842C>G (n.842C>G) c.781C>G (p.Leu261Val) c.721C>G (p.Leu241Val) | ClinVar dbSNP |
| 17 | g.61799176G= | CA2269178665 | BRIP1 | c.757C= (p.Leu253=) c.1264C= (p.Leu422=) n.3005C= c.1042C= (p.Leu348=) c.842C= (n.842C=) c.781C= (p.Leu261=) c.721C= (p.Leu241=) | |
| 17 | g.61799176G>T | CA8690770 | BRIP1 | c.757C>A (p.Leu253Ile) c.1264C>A (p.Leu422Ile) n.3005C>A c.1042C>A (p.Leu348Ile) c.842C>A (n.842C>A) c.781C>A (p.Leu261Ile) c.721C>A (p.Leu241Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.61799177T>A | CA400483575 | BRIP1 | c.756A>T (p.Glu252Asp) c.1263A>T (p.Glu421Asp) n.3004A>T c.1041A>T (p.Glu347Asp) c.841A>T (n.841A>T) c.780A>T (p.Glu260Asp) c.720A>T (p.Glu240Asp) | dbSNP |
| 17 | g.61799177T>C | CA350521 | BRIP1 | c.756A>G (p.Glu252=) c.1263A>G (p.Glu421=) n.3004A>G c.1041A>G (p.Glu347=) c.841A>G (n.841A>G) c.780A>G (p.Glu260=) c.720A>G (p.Glu240=) | ClinVar dbSNP gnomAD v4 |
| 17 | g.61799177T>G | CA400483576 | BRIP1 | c.756A>C (p.Glu252Asp) c.1263A>C (p.Glu421Asp) n.3004A>C c.1041A>C (p.Glu347Asp) c.841A>C (n.841A>C) c.780A>C (p.Glu260Asp) c.720A>C (p.Glu240Asp) | |
| 17 | g.61799177T= | CA2269178666 | BRIP1 | c.756A= (p.Glu252=) c.1263A= (p.Glu421=) n.3004A= c.1041A= (p.Glu347=) c.841A= (n.841A=) c.780A= (p.Glu260=) c.720A= (p.Glu240=) | |
| 17 | g.61799178T>A | CA400483577 | BRIP1 | c.755A>T (p.Glu252Val) c.1262A>T (p.Glu421Val) n.3003A>T c.1040A>T (p.Glu347Val) c.840A>T (n.840A>T) c.779A>T (p.Glu260Val) c.719A>T (p.Glu240Val) | ClinVar dbSNP |
| 17 | g.61799178T>C | CA400483578 | BRIP1 | c.755A>G (p.Glu252Gly) c.1262A>G (p.Glu421Gly) n.3003A>G c.1040A>G (p.Glu347Gly) c.840A>G (n.840A>G) c.779A>G (p.Glu260Gly) c.719A>G (p.Glu240Gly) | |
| 17 | g.61799178T>G | CA400483579 | BRIP1 | c.755A>C (p.Glu252Ala) c.1262A>C (p.Glu421Ala) n.3003A>C c.1040A>C (p.Glu347Ala) c.840A>C (n.840A>C) c.779A>C (p.Glu260Ala) c.719A>C (p.Glu240Ala) | |
| 17 | g.61799178T= | CA2269178667 | BRIP1 | c.755A= (p.Glu252=) c.1262A= (p.Glu421=) n.3003A= c.1040A= (p.Glu347=) c.840A= (n.840A=) c.779A= (p.Glu260=) c.719A= (p.Glu240=) | |
| 17 | g.61799179del | CA2582342228 | BRIP1 | c.754del (p.Glu252AsnfsTer2) c.1261del (p.Glu421AsnfsTer2) n.3002del c.1039del (p.Glu347AsnfsTer2) c.839del (n.839del) c.778del (p.Glu260AsnfsTer2) c.718del (p.Glu240AsnfsTer2) | ClinVar |
| 17 | g.61799179C>A | CA400483580 | BRIP1 | c.754G>T (p.Glu252Ter) c.1261G>T (p.Glu421Ter) n.3002G>T c.1039G>T (p.Glu347Ter) c.839G>T (n.839G>T) c.778G>T (p.Glu260Ter) c.718G>T (p.Glu240Ter) | |
| 17 | g.61799179C= | CA2269178668 | BRIP1 | c.754G= (p.Glu252=) c.1261G= (p.Glu421=) n.3002G= c.1039G= (p.Glu347=) c.839G= (n.839G=) c.778G= (p.Glu260=) c.718G= (p.Glu240=) | |
| 17 | g.61799179C>G | CA400483581 | BRIP1 | c.754G>C (p.Glu252Gln) c.1261G>C (p.Glu421Gln) n.3002G>C c.1039G>C (p.Glu347Gln) c.839G>C (n.839G>C) c.778G>C (p.Glu260Gln) c.718G>C (p.Glu240Gln) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
| 17 | g.61799179C>T | CA400483582 | BRIP1 | c.754G>A (p.Glu252Lys) c.1261G>A (p.Glu421Lys) n.3002G>A c.1039G>A (p.Glu347Lys) c.839G>A (n.839G>A) c.778G>A (p.Glu260Lys) c.718G>A (p.Glu240Lys) | ClinVar dbSNP |
| 17 | g.61799180A>C | CA400483583 | BRIP1 | c.753T>G (p.Asp251Glu) c.1260T>G (p.Asp420Glu) n.3001T>G c.1038T>G (p.Asp346Glu) c.838T>G (n.838T>G) c.777T>G (p.Asp259Glu) c.717T>G (p.Asp239Glu) | dbSNP |
| 17 | g.61799180A>G | CA501151513 | BRIP1 | c.753T>C (p.Asp251=) c.1260T>C (p.Asp420=) n.3001T>C c.1038T>C (p.Asp346=) c.838T>C (n.838T>C) c.777T>C (p.Asp259=) c.717T>C (p.Asp239=) | ClinVar gnomAD v4 |
| 17 | g.61799180A>T | CA400483584 | BRIP1 | c.753T>A (p.Asp251Glu) c.1260T>A (p.Asp420Glu) n.3001T>A c.1038T>A (p.Asp346Glu) c.838T>A (n.838T>A) c.777T>A (p.Asp259Glu) c.717T>A (p.Asp239Glu) | |
| 17 | g.61799181T>A | CA400483585 | BRIP1 | c.752A>T (p.Asp251Val) c.1259A>T (p.Asp420Val) n.3000A>T c.1037A>T (p.Asp346Val) c.837A>T (n.837A>T) c.776A>T (p.Asp259Val) c.716A>T (p.Asp239Val) | dbSNP |
| 17 | g.61799181T>C | CA400483586 | BRIP1 | c.752A>G (p.Asp251Gly) c.1259A>G (p.Asp420Gly) n.3000A>G c.1037A>G (p.Asp346Gly) c.837A>G (n.837A>G) c.776A>G (p.Asp259Gly) c.716A>G (p.Asp239Gly) | |
| 17 | g.61799181T>G | CA400483587 | BRIP1 | c.752A>C (p.Asp251Ala) c.1259A>C (p.Asp420Ala) n.3000A>C c.1037A>C (p.Asp346Ala) c.837A>C (n.837A>C) c.776A>C (p.Asp259Ala) c.716A>C (p.Asp239Ala) | |
| 17 | g.61799182C>A | CA400483588 | BRIP1 | c.751G>T (p.Asp251Tyr) c.1258G>T (p.Asp420Tyr) n.2999G>T c.1036G>T (p.Asp346Tyr) c.836G>T (n.836G>T) c.775G>T (p.Asp259Tyr) c.715G>T (p.Asp239Tyr) | dbSNP |
| 17 | g.61799182C= | CA2269178669 | BRIP1 | c.751G= (p.Asp251=) c.1258G= (p.Asp420=) n.2999G= c.1036G= (p.Asp346=) c.836G= (n.836G=) c.775G= (p.Asp259=) c.715G= (p.Asp239=) | |
| 17 | g.61799182C>G | CA400483589 | BRIP1 | c.751G>C (p.Asp251His) c.1258G>C (p.Asp420His) n.2999G>C c.1036G>C (p.Asp346His) c.836G>C (n.836G>C) c.775G>C (p.Asp259His) c.715G>C (p.Asp239His) | dbSNP |
| 17 | g.61799182C>T | CA400483590 | BRIP1 | c.751G>A (p.Asp251Asn) c.1258G>A (p.Asp420Asn) n.2999G>A c.1036G>A (p.Asp346Asn) c.836G>A (n.836G>A) c.775G>A (p.Asp259Asn) c.715G>A (p.Asp239Asn) | ClinVar dbSNP |
| 17 | g.61799184del | CA2695226759 | BRIP1 | c.751del (p.Asp251MetfsTer3) c.1258del (p.Asp420MetfsTer3) n.2999del c.1036del (p.Asp346MetfsTer3) c.836del (n.836del) c.775del (p.Asp259MetfsTer3) c.715del (p.Asp239MetfsTer3) | |
| 17 | g.61799183C>A | CA501151517 | BRIP1 | c.750G>T (p.Arg250=) c.1257G>T (p.Arg419=) n.2998G>T c.1035G>T (p.Arg345=) c.835G>T (n.835G>T) c.774G>T (p.Arg258=) c.714G>T (p.Arg238=) | ClinVar dbSNP |
| 17 | g.61799183C= | CA2269178670 | BRIP1 | c.750G= (p.Arg250=) c.1257G= (p.Arg419=) n.2998G= c.1035G= (p.Arg345=) c.835G= (n.835G=) c.774G= (p.Arg258=) c.714G= (p.Arg238=) | |
| 17 | g.61799183C>G | CA501151518 | BRIP1 | c.750G>C (p.Arg250=) c.1257G>C (p.Arg419=) n.2998G>C c.1035G>C (p.Arg345=) c.835G>C (n.835G>C) c.774G>C (p.Arg258=) c.714G>C (p.Arg238=) | dbSNP |
| 17 | g.61799183C>T | CA298908 | BRIP1 | c.750G>A (p.Arg250=) c.1257G>A (p.Arg419=) n.2998G>A c.1035G>A (p.Arg345=) c.835G>A (n.835G>A) c.774G>A (p.Arg258=) c.714G>A (p.Arg238=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.61799184C>A | CA400483591 | BRIP1 | c.749G>T (p.Arg250Leu) c.1256G>T (p.Arg419Leu) n.2997G>T c.1034G>T (p.Arg345Leu) c.834G>T (n.834G>T) c.773G>T (p.Arg258Leu) c.713G>T (p.Arg238Leu) | dbSNP gnomAD v4 |
| 17 | g.61799184C= | CA2269178671 | BRIP1 | c.749G= (p.Arg250=) c.1256G= (p.Arg419=) n.2997G= c.1034G= (p.Arg345=) c.834G= (n.834G=) c.773G= (p.Arg258=) c.713G= (p.Arg238=) | |
| 17 | g.61799184C>G | CA400483592 | BRIP1 | c.749G>C (p.Arg250Pro) c.1256G>C (p.Arg419Pro) n.2997G>C c.1034G>C (p.Arg345Pro) c.834G>C (n.834G>C) c.773G>C (p.Arg258Pro) c.713G>C (p.Arg238Pro) | ClinVar dbSNP |
| 17 | g.61799184C>T | CA8690771 | BRIP1 | c.749G>A (p.Arg250Gln) c.1256G>A (p.Arg419Gln) n.2997G>A c.1034G>A (p.Arg345Gln) c.834G>A (n.834G>A) c.773G>A (p.Arg258Gln) c.713G>A (p.Arg238Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.61799185G>A | CA157738 | BRIP1 | c.748C>T (p.Arg250Trp) c.1255C>T (p.Arg419Trp) n.2996C>T c.1033C>T (p.Arg345Trp) c.833C>T (n.833C>T) c.772C>T (p.Arg258Trp) c.712C>T (p.Arg238Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.61799185G>C | CA400483593 | BRIP1 | c.748C>G (p.Arg250Gly) c.1255C>G (p.Arg419Gly) n.2996C>G c.1033C>G (p.Arg345Gly) c.833C>G (n.833C>G) c.772C>G (p.Arg258Gly) c.712C>G (p.Arg238Gly) | ClinVar dbSNP |
| 17 | g.61799185G= | CA2269178672 | BRIP1 | c.748C= (p.Arg250=) c.1255C= (p.Arg419=) n.2996C= c.1033C= (p.Arg345=) c.833C= (n.833C=) c.772C= (p.Arg258=) c.712C= (p.Arg238=) | |
| 17 | g.61799185G>T | CA501151522 | BRIP1 | c.748C>A (p.Arg250=) c.1255C>A (p.Arg419=) n.2996C>A c.1033C>A (p.Arg345=) c.833C>A (n.833C>A) c.772C>A (p.Arg258=) c.712C>A (p.Arg238=) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.61799186_61799187del | CA2580094488 | BRIP1 | c.747_748del (p.Arg250GlyfsTer2) c.1254_1255del (p.Arg419GlyfsTer2) n.2995_2996del c.1032_1033del (p.Arg345GlyfsTer2) c.832_833del (n.832_833del) c.771_772del (p.Arg258GlyfsTer2) c.711_712del (p.Arg238GlyfsTer2) | ClinVar |
| 17 | g.61799186A>C | CA501151524 | BRIP1 | c.747T>G (p.Ala249=) c.1254T>G (p.Ala418=) n.2995T>G c.1032T>G (p.Ala344=) c.832T>G (n.832T>G) c.771T>G (p.Ala257=) c.711T>G (p.Ala237=) | |
| 17 | g.61799186A>G | CA501151525 | BRIP1 | c.747T>C (p.Ala249=) c.1254T>C (p.Ala418=) n.2995T>C c.1032T>C (p.Ala344=) c.832T>C (n.832T>C) c.771T>C (p.Ala257=) c.711T>C (p.Ala237=) | |
| 17 | g.61799186A>T | CA501151526 | BRIP1 | c.747T>A (p.Ala249=) c.1254T>A (p.Ala418=) n.2995T>A c.1032T>A (p.Ala344=) c.832T>A (n.832T>A) c.771T>A (p.Ala257=) c.711T>A (p.Ala237=) | dbSNP |
| 17 | g.61799187G>A | CA400483596 | BRIP1 | c.746C>T (p.Ala249Val) c.1253C>T (p.Ala418Val) n.2994C>T c.1031C>T (p.Ala344Val) c.831C>T (n.831C>T) c.770C>T (p.Ala257Val) c.710C>T (p.Ala237Val) | dbSNP |
| 17 | g.61799187G>C | CA400483595 | BRIP1 | c.746C>G (p.Ala249Gly) c.1253C>G (p.Ala418Gly) n.2994C>G c.1031C>G (p.Ala344Gly) c.831C>G (n.831C>G) c.770C>G (p.Ala257Gly) c.710C>G (p.Ala237Gly) | dbSNP |
| 17 | g.61799187G>T | CA400483594 | BRIP1 | c.746C>A (p.Ala249Asp) c.1253C>A (p.Ala418Asp) n.2994C>A c.1031C>A (p.Ala344Asp) c.831C>A (n.831C>A) c.770C>A (p.Ala257Asp) c.710C>A (p.Ala237Asp) | gnomAD v4 |
| 17 | g.61799188C>A | CA400483597 | BRIP1 | c.745G>T (p.Ala249Ser) c.1252G>T (p.Ala418Ser) n.2993G>T c.1030G>T (p.Ala344Ser) c.830G>T (n.830G>T) c.769G>T (p.Ala257Ser) c.709G>T (p.Ala237Ser) | ClinVar dbSNP |
| 17 | g.61799188C= | CA2269178674 | BRIP1 | c.745G= (p.Ala249=) c.1252G= (p.Ala418=) n.2993G= c.1030G= (p.Ala344=) c.830G= (n.830G=) c.769G= (p.Ala257=) c.709G= (p.Ala237=) | |
| 17 | g.61799188C>G | CA400483598 | BRIP1 | c.745G>C (p.Ala249Pro) c.1252G>C (p.Ala418Pro) n.2993G>C c.1030G>C (p.Ala344Pro) c.830G>C (n.830G>C) c.769G>C (p.Ala257Pro) c.709G>C (p.Ala237Pro) | |
| 17 | g.61799188C>T | CA400483599 | BRIP1 | c.745G>A (p.Ala249Thr) c.1252G>A (p.Ala418Thr) n.2993G>A c.1030G>A (p.Ala344Thr) c.830G>A (n.830G>A) c.769G>A (p.Ala257Thr) c.709G>A (p.Ala237Thr) | ClinVar dbSNP |
| 17 | g.61799188_61799210delinsCAAACCGAAGCTGAACTTCTGTT | CA2269178673 | BRIP1 | c.723_745delinsAACAGAAGTTCAGCTTCGGTTTG (p.Val241=) c.1230_1252delinsAACAGAAGTTCAGCTTCGGTTTG (p.Val410=) n.2971_2993delinsAACAGAAGTTCAGCTTCGGTTTG c.1008_1030delinsAACAGAAGTTCAGCTTCGGTTTG (p.Val336=) c.808_830delinsAACAGAAGTTCAGCTTCGGTTTG (n.808_830delinsAACAGAAGTTCAGCTTCGGTTTG) c.747_769delinsAACAGAAGTTCAGCTTCGGTTTG (p.Val249=) c.687_709delinsAACAGAAGTTCAGCTTCGGTTTG (p.Val229=) | |
| 17 | g.61799189A= | CA2269178675 | BRIP1 | c.744T= (p.Phe248=) c.1251T= (p.Phe417=) n.2992T= c.1029T= (p.Phe343=) c.829T= (n.829T=) c.768T= (p.Phe256=) c.708T= (p.Phe236=) | |
| 17 | g.61799189A>C | CA400483600 | BRIP1 | c.744T>G (p.Phe248Leu) c.1251T>G (p.Phe417Leu) n.2992T>G c.1029T>G (p.Phe343Leu) c.829T>G (n.829T>G) c.768T>G (p.Phe256Leu) c.708T>G (p.Phe236Leu) | |
| 17 | g.61799189A>G | CA501151527 | BRIP1 | c.744T>C (p.Phe248=) c.1251T>C (p.Phe417=) n.2992T>C c.1029T>C (p.Phe343=) c.829T>C (n.829T>C) c.768T>C (p.Phe256=) c.708T>C (p.Phe236=) | |
| 17 | g.61799189A>T | CA400483601 | BRIP1 | c.744T>A (p.Phe248Leu) c.1251T>A (p.Phe417Leu) n.2992T>A c.1029T>A (p.Phe343Leu) c.829T>A (n.829T>A) c.768T>A (p.Phe256Leu) c.708T>A (p.Phe236Leu) | ClinVar dbSNP |
| 17 | g.61799191dup | CA2695200313 | BRIP1 | c.744dup (p.Ala249CysfsTer4) c.1251dup (p.Ala418CysfsTer4) n.2992dup c.1029dup (p.Ala344CysfsTer4) c.829dup (n.829dup) c.768dup (p.Ala257CysfsTer4) c.708dup (p.Ala237CysfsTer4) | ClinVar |
| 17 | g.61799190_61799211del | CA192794 | BRIP1 | c.723_744del (p.Thr242LeufsTer5) c.1230_1251del (p.Thr411LeufsTer5) n.2971_2992del c.1008_1029del (p.Thr337LeufsTer5) c.808_829del (n.808_829del) c.747_768del (p.Thr250LeufsTer5) c.687_708del (p.Thr230LeufsTer5) | ClinVar dbSNP |
| 17 | g.61799190A>C | CA400483602 | BRIP1 | c.743T>G (p.Phe248Cys) c.1250T>G (p.Phe417Cys) n.2991T>G c.1028T>G (p.Phe343Cys) c.828T>G (n.828T>G) c.767T>G (p.Phe256Cys) c.707T>G (p.Phe236Cys) | dbSNP |
| 17 | g.61799190A>G | CA400483603 | BRIP1 | c.743T>C (p.Phe248Ser) c.1250T>C (p.Phe417Ser) n.2991T>C c.1028T>C (p.Phe343Ser) c.828T>C (n.828T>C) c.767T>C (p.Phe256Ser) c.707T>C (p.Phe236Ser) | |
| 17 | g.61799190A>T | CA400483604 | BRIP1 | c.743T>A (p.Phe248Tyr) c.1250T>A (p.Phe417Tyr) n.2991T>A c.1028T>A (p.Phe343Tyr) c.828T>A (n.828T>A) c.767T>A (p.Phe256Tyr) c.707T>A (p.Phe236Tyr) | ClinVar dbSNP |
| 17 | g.61799191A>C | CA400483605 | BRIP1 | c.742T>G (p.Phe248Val) c.1249T>G (p.Phe417Val) n.2990T>G c.1027T>G (p.Phe343Val) c.827T>G (n.827T>G) c.766T>G (p.Phe256Val) c.706T>G (p.Phe236Val) | dbSNP |
| 17 | g.61799191A>G | CA400483606 | BRIP1 | c.742T>C (p.Phe248Leu) c.1249T>C (p.Phe417Leu) n.2990T>C c.1027T>C (p.Phe343Leu) c.827T>C (n.827T>C) c.766T>C (p.Phe256Leu) c.706T>C (p.Phe236Leu) | |
| 17 | g.61799191A>T | CA400483607 | BRIP1 | c.742T>A (p.Phe248Ile) c.1249T>A (p.Phe417Ile) n.2990T>A c.1027T>A (p.Phe343Ile) c.827T>A (n.827T>A) c.766T>A (p.Phe256Ile) c.706T>A (p.Phe236Ile) | dbSNP |
| 17 | g.61799192C>A | CA501151530 | BRIP1 | c.741G>T (p.Arg247=) c.1248G>T (p.Arg416=) n.2989G>T c.1026G>T (p.Arg342=) c.826G>T (n.826G>T) c.765G>T (p.Arg255=) c.705G>T (p.Arg235=) | dbSNP |
| 17 | g.61799192C= | CA2269178676 | BRIP1 | c.741G= (p.Arg247=) c.1248G= (p.Arg416=) n.2989G= c.1026G= (p.Arg342=) c.826G= (n.826G=) c.765G= (p.Arg255=) c.705G= (p.Arg235=) | |
| 17 | g.61799192C>G | CA501151531 | BRIP1 | c.741G>C (p.Arg247=) c.1248G>C (p.Arg416=) n.2989G>C c.1026G>C (p.Arg342=) c.826G>C (n.826G>C) c.765G>C (p.Arg255=) c.705G>C (p.Arg235=) | dbSNP COSMIC |
| 17 | g.61799192C>T | CA501151529 | BRIP1 | c.741G>A (p.Arg247=) c.1248G>A (p.Arg416=) n.2989G>A c.1026G>A (p.Arg342=) c.826G>A (n.826G>A) c.765G>A (p.Arg255=) c.705G>A (p.Arg235=) | dbSNP |
| 17 | g.61799193C>A | CA400483609 | BRIP1 | c.740G>T (p.Arg247Leu) c.1247G>T (p.Arg416Leu) n.2988G>T c.1025G>T (p.Arg342Leu) c.825G>T (n.825G>T) c.764G>T (p.Arg255Leu) c.704G>T (p.Arg235Leu) | ClinVar dbSNP gnomAD v4 |
| 17 | g.61799193C= | CA2269178677 | BRIP1 | c.740G= (p.Arg247=) c.1247G= (p.Arg416=) n.2988G= c.1025G= (p.Arg342=) c.825G= (n.825G=) c.764G= (p.Arg255=) c.704G= (p.Arg235=) | |
| 17 | g.61799193C>G | CA400483608 | BRIP1 | c.740G>C (p.Arg247Pro) c.1247G>C (p.Arg416Pro) n.2988G>C c.1025G>C (p.Arg342Pro) c.825G>C (n.825G>C) c.764G>C (p.Arg255Pro) c.704G>C (p.Arg235Pro) | dbSNP |
| 17 | g.61799193C>T | CA8690772 | BRIP1 | c.740G>A (p.Arg247Gln) c.1247G>A (p.Arg416Gln) n.2988G>A c.1025G>A (p.Arg342Gln) c.825G>A (n.825G>A) c.764G>A (p.Arg255Gln) c.704G>A (p.Arg235Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.61799194G>A | CA288508 | BRIP1 | c.739C>T (p.Arg247Trp) c.1246C>T (p.Arg416Trp) n.2987C>T c.1024C>T (p.Arg342Trp) c.824C>T (n.824C>T) c.763C>T (p.Arg255Trp) c.703C>T (p.Arg235Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.61799194G>C | CA400483610 | BRIP1 | c.739C>G (p.Arg247Gly) c.1246C>G (p.Arg416Gly) n.2987C>G c.1024C>G (p.Arg342Gly) c.824C>G (n.824C>G) c.763C>G (p.Arg255Gly) c.703C>G (p.Arg235Gly) | dbSNP |
| 17 | g.61799194G= | CA2269178678 | BRIP1 | c.739C= (p.Arg247=) c.1246C= (p.Arg416=) n.2987C= c.1024C= (p.Arg342=) c.824C= (n.824C=) c.763C= (p.Arg255=) c.703C= (p.Arg235=) | |
| 17 | g.61799194G>T | CA501151534 | BRIP1 | c.739C>A (p.Arg247=) c.1246C>A (p.Arg416=) n.2987C>A c.1024C>A (p.Arg342=) c.824C>A (n.824C>A) c.763C>A (p.Arg255=) c.703C>A (p.Arg235=) | dbSNP |
| 17 | g.61799195A= | CA2269178679 | BRIP1 | c.738T= (p.Leu246=) c.1245T= (p.Leu415=) n.2986T= c.1023T= (p.Leu341=) c.823T= (n.823T=) c.762T= (p.Leu254=) c.702T= (p.Leu234=) | |
| 17 | g.61799195A>C | CA501151535 | BRIP1 | c.738T>G (p.Leu246=) c.1245T>G (p.Leu415=) n.2986T>G c.1023T>G (p.Leu341=) c.823T>G (n.823T>G) c.762T>G (p.Leu254=) c.702T>G (p.Leu234=) | |
| 17 | g.61799195A>G | CA501151536 | BRIP1 | c.738T>C (p.Leu246=) c.1245T>C (p.Leu415=) n.2986T>C c.1023T>C (p.Leu341=) c.823T>C (n.823T>C) c.762T>C (p.Leu254=) c.702T>C (p.Leu234=) | |
| 17 | g.61799195A>T | CA501151537 | BRIP1 | c.738T>A (p.Leu246=) c.1245T>A (p.Leu415=) n.2986T>A c.1023T>A (p.Leu341=) c.823T>A (n.823T>A) c.762T>A (p.Leu254=) c.702T>A (p.Leu234=) | |
| 17 | g.61799196A>C | CA400483611 | BRIP1 | c.737T>G (p.Leu246Arg) c.1244T>G (p.Leu415Arg) n.2985T>G c.1022T>G (p.Leu341Arg) c.822T>G (n.822T>G) c.761T>G (p.Leu254Arg) c.701T>G (p.Leu234Arg) | |
| 17 | g.61799196A>G | CA400483613 | BRIP1 | c.737T>C (p.Leu246Pro) c.1244T>C (p.Leu415Pro) n.2985T>C c.1022T>C (p.Leu341Pro) c.822T>C (n.822T>C) c.761T>C (p.Leu254Pro) c.701T>C (p.Leu234Pro) | |
| 17 | g.61799196A>T | CA400483612 | BRIP1 | c.737T>A (p.Leu246His) c.1244T>A (p.Leu415His) n.2985T>A c.1022T>A (p.Leu341His) c.822T>A (n.822T>A) c.761T>A (p.Leu254His) c.701T>A (p.Leu234His) | dbSNP |
| 17 | g.61799197_61799201dup | CA1139665790 | BRIP1 | c.733_737dup (p.Arg247SerfsTer9) c.1240_1244dup (p.Arg416SerfsTer9) n.2981_2985dup c.1018_1022dup (p.Arg342SerfsTer9) c.818_822dup (n.818_822dup) c.757_761dup (p.Arg255SerfsTer9) c.697_701dup (p.Arg235SerfsTer9) | ClinVar dbSNP |
| 17 | g.61799197G>A | CA400483614 | BRIP1 | c.736C>T (p.Leu246Phe) c.1243C>T (p.Leu415Phe) n.2984C>T c.1021C>T (p.Leu341Phe) c.821C>T (n.821C>T) c.760C>T (p.Leu254Phe) c.700C>T (p.Leu234Phe) | dbSNP |
| 17 | g.61799197G>C | CA400483615 | BRIP1 | c.736C>G (p.Leu246Val) c.1243C>G (p.Leu415Val) n.2984C>G c.1021C>G (p.Leu341Val) c.821C>G (n.821C>G) c.760C>G (p.Leu254Val) c.700C>G (p.Leu234Val) | dbSNP |
| 17 | g.61799197G>T | CA400483616 | BRIP1 | c.736C>A (p.Leu246Ile) c.1243C>A (p.Leu415Ile) n.2984C>A c.1021C>A (p.Leu341Ile) c.821C>A (n.821C>A) c.760C>A (p.Leu254Ile) c.700C>A (p.Leu234Ile) | |
| 17 | g.61799198C>A | CA400483617 | BRIP1 | c.735G>T (p.Gln245His) c.1242G>T (p.Gln414His) n.2983G>T c.1020G>T (p.Gln340His) c.820G>T (n.820G>T) c.759G>T (p.Gln253His) c.699G>T (p.Gln233His) | dbSNP |
| 17 | g.61799198C= | CA2269178680 | BRIP1 | c.735G= (p.Gln245=) c.1242G= (p.Gln414=) n.2983G= c.1020G= (p.Gln340=) c.820G= (n.820G=) c.759G= (p.Gln253=) c.699G= (p.Gln233=) | |
| 17 | g.61799198C>G | CA400483618 | BRIP1 | c.735G>C (p.Gln245His) c.1242G>C (p.Gln414His) n.2983G>C c.1020G>C (p.Gln340His) c.820G>C (n.820G>C) c.759G>C (p.Gln253His) c.699G>C (p.Gln233His) | ClinVar dbSNP |
| 17 | g.61799198C>T | CA501151538 | BRIP1 | c.735G>A (p.Gln245=) c.1242G>A (p.Gln414=) n.2983G>A c.1020G>A (p.Gln340=) c.820G>A (n.820G>A) c.759G>A (p.Gln253=) c.699G>A (p.Gln233=) | ClinVar dbSNP |
| 17 | g.61799199T>A | CA400483619 | BRIP1 | c.734A>T (p.Gln245Leu) c.1241A>T (p.Gln414Leu) n.2982A>T c.1019A>T (p.Gln340Leu) c.819A>T (n.819A>T) c.758A>T (p.Gln253Leu) c.698A>T (p.Gln233Leu) | |
| 17 | g.61799199T>C | CA400483620 | BRIP1 | c.734A>G (p.Gln245Arg) c.1241A>G (p.Gln414Arg) n.2982A>G c.1019A>G (p.Gln340Arg) c.819A>G (n.819A>G) c.758A>G (p.Gln253Arg) c.698A>G (p.Gln233Arg) | dbSNP |
| 17 | g.61799199T>G | CA400483621 | BRIP1 | c.734A>C (p.Gln245Pro) c.1241A>C (p.Gln414Pro) n.2982A>C c.1019A>C (p.Gln340Pro) c.819A>C (n.819A>C) c.758A>C (p.Gln253Pro) c.698A>C (p.Gln233Pro) | |
| 17 | g.61799200G>A | CA165277 | BRIP1 | c.733C>T (p.Gln245Ter) c.1240C>T (p.Gln414Ter) n.2981C>T c.1018C>T (p.Gln340Ter) c.818C>T (n.818C>T) c.757C>T (p.Gln253Ter) c.697C>T (p.Gln233Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.61799200G>C | CA400483622 | BRIP1 | c.733C>G (p.Gln245Glu) c.1240C>G (p.Gln414Glu) n.2981C>G c.1018C>G (p.Gln340Glu) c.818C>G (n.818C>G) c.757C>G (p.Gln253Glu) c.697C>G (p.Gln233Glu) | dbSNP |
| 17 | g.61799200G= | CA2269178681 | BRIP1 | c.733C= (p.Gln245=) c.1240C= (p.Gln414=) n.2981C= c.1018C= (p.Gln340=) c.818C= (n.818C=) c.757C= (p.Gln253=) c.697C= (p.Gln233=) | |
| 17 | g.61799200G>T | CA400483623 | BRIP1 | c.733C>A (p.Gln245Lys) c.1240C>A (p.Gln414Lys) n.2981C>A c.1018C>A (p.Gln340Lys) c.818C>A (n.818C>A) c.757C>A (p.Gln253Lys) c.697C>A (p.Gln233Lys) |