| 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) | 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) | |
| 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) |