| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.61801238_61801272dup | CA8690797 | BRIP1 | c.615_633+16dup c.1122_1140+16dup n.2863_2881+16dup c.919-1972_919-1938dup (n.919-1972_919-1938dup) c.700_718+16dup c.639_657+16dup c.579_597+16dup | dbSNP ExAC gnomAD v4 |
| 17 | g.61801268_61801269del | CA288507 | BRIP1 | c.619_620del (p.Gln207AsnfsTer18) c.1126_1127del (p.Gln376AsnfsTer18) n.2867_2868del c.919-1968_919-1967del (n.919-1968_919-1967del) c.704_705del (n.704_705del) c.643_644del (p.Gln215AsnfsTer18) c.583_584del (p.Gln195AsnfsTer18) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.61801268T>A | CA501151749 | BRIP1 | c.618A>T (p.Ala206=) c.1125A>T (p.Ala375=) n.2866A>T c.919-1969A>T (n.919-1969A>T) c.703A>T (n.703A>T) c.642A>T (p.Ala214=) c.582A>T (p.Ala194=) | dbSNP |
| 17 | g.61801268T>C | CA501151750 | BRIP1 | c.618A>G (p.Ala206=) c.1125A>G (p.Ala375=) n.2866A>G c.919-1969A>G (n.919-1969A>G) c.703A>G (n.703A>G) c.642A>G (p.Ala214=) c.582A>G (p.Ala194=) | |
| 17 | g.61801268T>G | CA501151751 | BRIP1 | c.618A>C (p.Ala206=) c.1125A>C (p.Ala375=) n.2866A>C c.919-1969A>C (n.919-1969A>C) c.703A>C (n.703A>C) c.642A>C (p.Ala214=) c.582A>C (p.Ala194=) | ClinVar dbSNP |
| 17 | g.61801269G>A | CA192031 | BRIP1 | c.617C>T (p.Ala206Val) c.1124C>T (p.Ala375Val) n.2865C>T c.919-1970C>T (n.919-1970C>T) c.702C>T (n.702C>T) c.641C>T (p.Ala214Val) c.581C>T (p.Ala194Val) | ClinVar dbSNP gnomAD v4 |
| 17 | g.61801269G>C | CA400483882 | BRIP1 | c.617C>G (p.Ala206Gly) c.1124C>G (p.Ala375Gly) n.2865C>G c.919-1970C>G (n.919-1970C>G) c.702C>G (n.702C>G) c.641C>G (p.Ala214Gly) c.581C>G (p.Ala194Gly) | dbSNP |
| 17 | g.61801269G= | CA2269179527 | BRIP1 | c.617C= (p.Ala206=) c.1124C= (p.Ala375=) n.2865C= c.919-1970C= (n.919-1970C=) c.702C= (n.702C=) c.641C= (p.Ala214=) c.581C= (p.Ala194=) | |
| 17 | g.61801269G>T | CA400483883 | BRIP1 | c.617C>A (p.Ala206Glu) c.1124C>A (p.Ala375Glu) n.2865C>A c.919-1970C>A (n.919-1970C>A) c.702C>A (n.702C>A) c.641C>A (p.Ala214Glu) c.581C>A (p.Ala194Glu) | |
| 17 | g.61801270C>A | CA400483884 | BRIP1 | c.616G>T (p.Ala206Ser) c.1123G>T (p.Ala375Ser) n.2864G>T c.919-1971G>T (n.919-1971G>T) c.701G>T (n.701G>T) c.640G>T (p.Ala214Ser) c.580G>T (p.Ala194Ser) | ClinVar |
| 17 | g.61801270C= | CA2269179528 | BRIP1 | c.616G= (p.Ala206=) c.1123G= (p.Ala375=) n.2864G= c.919-1971G= (n.919-1971G=) c.701G= (n.701G=) c.640G= (p.Ala214=) c.580G= (p.Ala194=) | |
| 17 | g.61801270C>G | CA400483885 | BRIP1 | c.616G>C (p.Ala206Pro) c.1123G>C (p.Ala375Pro) n.2864G>C c.919-1971G>C (n.919-1971G>C) c.701G>C (n.701G>C) c.640G>C (p.Ala214Pro) c.580G>C (p.Ala194Pro) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.61801270C>T | CA10583635 | BRIP1 | c.616G>A (p.Ala206Thr) c.1123G>A (p.Ala375Thr) n.2864G>A c.919-1971G>A (n.919-1971G>A) c.701G>A (n.701G>A) c.640G>A (p.Ala214Thr) c.580G>A (p.Ala194Thr) | ClinVar dbSNP |
| 17 | g.61801271A>C | CA400483886 | BRIP1 | c.615T>G (p.Asp205Glu) c.1122T>G (p.Asp374Glu) n.2863T>G c.919-1972T>G (n.919-1972T>G) c.700T>G (n.700T>G) c.639T>G (p.Asp213Glu) c.579T>G (p.Asp193Glu) | |
| 17 | g.61801271A>G | CA501151752 | BRIP1 | c.615T>C (p.Asp205=) c.1122T>C (p.Asp374=) n.2863T>C c.919-1972T>C (n.919-1972T>C) c.700T>C (n.700T>C) c.639T>C (p.Asp213=) c.579T>C (p.Asp193=) | dbSNP |
| 17 | g.61801271A>T | CA400483887 | BRIP1 | c.615T>A (p.Asp205Glu) c.1122T>A (p.Asp374Glu) n.2863T>A c.919-1972T>A (n.919-1972T>A) c.700T>A (n.700T>A) c.639T>A (p.Asp213Glu) c.579T>A (p.Asp193Glu) | ClinVar dbSNP |
| 17 | g.61801272T>A | CA400483888 | BRIP1 | c.614A>T (p.Asp205Val) c.1121A>T (p.Asp374Val) n.2862A>T c.919-1973A>T (n.919-1973A>T) c.699A>T (n.699A>T) c.638A>T (p.Asp213Val) c.578A>T (p.Asp193Val) | ClinVar |
| 17 | g.61801272T>C | CA400483889 | BRIP1 | c.614A>G (p.Asp205Gly) c.1121A>G (p.Asp374Gly) n.2862A>G c.919-1973A>G (n.919-1973A>G) c.699A>G (n.699A>G) c.638A>G (p.Asp213Gly) c.578A>G (p.Asp193Gly) | ClinVar dbSNP |
| 17 | g.61801272T>G | CA400483890 | BRIP1 | c.614A>C (p.Asp205Ala) c.1121A>C (p.Asp374Ala) n.2862A>C c.919-1973A>C (n.919-1973A>C) c.699A>C (n.699A>C) c.638A>C (p.Asp213Ala) c.578A>C (p.Asp193Ala) | |
| 17 | g.61801272T= | CA2269179529 | BRIP1 | c.614A= (p.Asp205=) c.1121A= (p.Asp374=) n.2862A= c.919-1973A= (n.919-1973A=) c.699A= (n.699A=) c.638A= (p.Asp213=) c.578A= (p.Asp193=) | |
| 17 | g.61801272_61805677del | CA1139665793 | BRIP1 | c.411+2790_614del c.918+2790_1121del n.2659+2790_2862del c.918+2790_919-1973del (n.918+2790_919-1973del) c.411+2790_699del c.435+2790_638del c.375+2790_578del | ClinVar |
| 17 | g.61801273C>A | CA400483891 | BRIP1 | c.613G>T (p.Asp205Tyr) c.1120G>T (p.Asp374Tyr) n.2861G>T c.919-1974G>T (n.919-1974G>T) c.698G>T (n.698G>T) c.637G>T (p.Asp213Tyr) c.577G>T (p.Asp193Tyr) | dbSNP |
| 17 | g.61801273C>G | CA400483892 | BRIP1 | c.613G>C (p.Asp205His) c.1120G>C (p.Asp374His) n.2861G>C c.919-1974G>C (n.919-1974G>C) c.698G>C (n.698G>C) c.637G>C (p.Asp213His) c.577G>C (p.Asp193His) | dbSNP gnomAD v4 |
| 17 | g.61801273C>T | CA400483893 | BRIP1 | c.613G>A (p.Asp205Asn) c.1120G>A (p.Asp374Asn) n.2861G>A c.919-1974G>A (n.919-1974G>A) c.698G>A (n.698G>A) c.637G>A (p.Asp213Asn) c.577G>A (p.Asp193Asn) | dbSNP |
| 17 | g.61801274T>A | CA501151753 | BRIP1 | c.612A>T (p.Leu204=) c.1119A>T (p.Leu373=) n.2860A>T c.919-1975A>T (n.919-1975A>T) c.697A>T (n.697A>T) c.636A>T (p.Leu212=) c.576A>T (p.Leu192=) | |
| 17 | g.61801274T>C | CA501151754 | BRIP1 | c.612A>G (p.Leu204=) c.1119A>G (p.Leu373=) n.2860A>G c.919-1975A>G (n.919-1975A>G) c.697A>G (n.697A>G) c.636A>G (p.Leu212=) c.576A>G (p.Leu192=) | ClinVar gnomAD v4 |
| 17 | g.61801274T>G | CA501151755 | BRIP1 | c.612A>C (p.Leu204=) c.1119A>C (p.Leu373=) n.2860A>C c.919-1975A>C (n.919-1975A>C) c.697A>C (n.697A>C) c.636A>C (p.Leu212=) c.576A>C (p.Leu192=) | |
| 17 | g.61801277_61801283del | CA2639156745 | BRIP1 | c.606_612del (p.Tyr202Ter) c.1113_1119del (p.Tyr371Ter) n.2854_2860del c.919-1981_919-1975del (n.919-1981_919-1975del) c.691_697del (n.691_697del) c.630_636del (p.Tyr210Ter) c.570_576del (p.Tyr190Ter) | gnomAD v4 |
| 17 | g.61801275A>C | CA400483894 | BRIP1 | c.611T>G (p.Leu204Arg) c.1118T>G (p.Leu373Arg) n.2859T>G c.919-1976T>G (n.919-1976T>G) c.696T>G (n.696T>G) c.635T>G (p.Leu212Arg) c.575T>G (p.Leu192Arg) | |
| 17 | g.61801275A>G | CA400483895 | BRIP1 | c.611T>C (p.Leu204Pro) c.1118T>C (p.Leu373Pro) n.2859T>C c.919-1976T>C (n.919-1976T>C) c.696T>C (n.696T>C) c.635T>C (p.Leu212Pro) c.575T>C (p.Leu192Pro) | ClinVar dbSNP |
| 17 | g.61801275A>T | CA400483896 | BRIP1 | c.611T>A (p.Leu204Gln) c.1118T>A (p.Leu373Gln) n.2859T>A c.919-1976T>A (n.919-1976T>A) c.696T>A (n.696T>A) c.635T>A (p.Leu212Gln) c.575T>A (p.Leu192Gln) | dbSNP |
| 17 | g.61801276G>A | CA8690801 | BRIP1 | c.610C>T (p.Leu204=) c.1117C>T (p.Leu373=) n.2858C>T c.919-1977C>T (n.919-1977C>T) c.695C>T (n.695C>T) c.634C>T (p.Leu212=) c.574C>T (p.Leu192=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.61801276G>C | CA400483898 | BRIP1 | c.610C>G (p.Leu204Val) c.1117C>G (p.Leu373Val) n.2858C>G c.919-1977C>G (n.919-1977C>G) c.695C>G (n.695C>G) c.634C>G (p.Leu212Val) c.574C>G (p.Leu192Val) | dbSNP |
| 17 | g.61801276G= | CA2269179530 | BRIP1 | c.610C= (p.Leu204=) c.1117C= (p.Leu373=) n.2858C= c.919-1977C= (n.919-1977C=) c.695C= (n.695C=) c.634C= (p.Leu212=) c.574C= (p.Leu192=) | |
| 17 | g.61801276G>T | CA400483897 | BRIP1 | c.610C>A (p.Leu204Ile) c.1117C>A (p.Leu373Ile) n.2858C>A c.919-1977C>A (n.919-1977C>A) c.695C>A (n.695C>A) c.634C>A (p.Leu212Ile) c.574C>A (p.Leu192Ile) | dbSNP |
| 17 | g.61801277A= | CA2269179532 | BRIP1 | c.609T= (p.Leu203=) c.1116T= (p.Leu372=) n.2857T= c.919-1978T= (n.919-1978T=) c.694T= (n.694T=) c.633T= (p.Leu211=) c.573T= (p.Leu191=) | |
| 17 | g.61801277A>C | CA501151756 | BRIP1 | c.609T>G (p.Leu203=) c.1116T>G (p.Leu372=) n.2857T>G c.919-1978T>G (n.919-1978T>G) c.694T>G (n.694T>G) c.633T>G (p.Leu211=) c.573T>G (p.Leu191=) | |
| 17 | g.61801277A>G | CA501151757 | BRIP1 | c.609T>C (p.Leu203=) c.1116T>C (p.Leu372=) n.2857T>C c.919-1978T>C (n.919-1978T>C) c.694T>C (n.694T>C) c.633T>C (p.Leu211=) c.573T>C (p.Leu191=) | ClinVar dbSNP gnomAD v4 |
| 17 | g.61801277A>T | CA501151758 | BRIP1 | c.609T>A (p.Leu203=) c.1116T>A (p.Leu372=) n.2857T>A c.919-1978T>A (n.919-1978T>A) c.694T>A (n.694T>A) c.633T>A (p.Leu211=) c.573T>A (p.Leu191=) | ClinVar dbSNP |
| 17 | g.61801278del | CA2639156746 | BRIP1 | c.609del (p.Leu204Ter) c.1116del (p.Leu373Ter) n.2857del c.919-1978del (n.919-1978del) c.694del (n.694del) c.633del (p.Leu212Ter) c.573del (p.Leu192Ter) | gnomAD v4 |
| 17 | g.61801277_61801279delinsAAG | CA2269179531 | BRIP1 | c.607_609delinsCTT (p.Leu203=) c.1114_1116delinsCTT (p.Leu372=) n.2855_2857delinsCTT c.919-1980_919-1978delinsCTT (n.919-1980_919-1978delinsCTT) c.692_694delinsCTT (n.692_694delinsCTT) c.631_633delinsCTT (p.Leu211=) c.571_573delinsCTT (p.Leu191=) | |
| 17 | g.61801278A>C | CA400483899 | BRIP1 | c.608T>G (p.Leu203Arg) c.1115T>G (p.Leu372Arg) n.2856T>G c.919-1979T>G (n.919-1979T>G) c.693T>G (n.693T>G) c.632T>G (p.Leu211Arg) c.572T>G (p.Leu191Arg) | |
| 17 | g.61801278A>G | CA400483900 | BRIP1 | c.608T>C (p.Leu203Pro) c.1115T>C (p.Leu372Pro) n.2856T>C c.919-1979T>C (n.919-1979T>C) c.693T>C (n.693T>C) c.632T>C (p.Leu211Pro) c.572T>C (p.Leu191Pro) | |
| 17 | g.61801278A>T | CA400483901 | BRIP1 | c.608T>A (p.Leu203His) c.1115T>A (p.Leu372His) n.2856T>A c.919-1979T>A (n.919-1979T>A) c.693T>A (n.693T>A) c.632T>A (p.Leu211His) c.572T>A (p.Leu191His) | dbSNP |
| 17 | g.61801278_61801279delinsT | CA167356 | BRIP1 | c.607_608delinsA (p.Leu203IlefsTer2) c.1114_1115delinsA (p.Leu372IlefsTer2) n.2855_2856delinsA c.919-1980_919-1979delinsA (n.919-1980_919-1979delinsA) c.692_693delinsA (n.692_693delinsA) c.631_632delinsA (p.Leu211IlefsTer2) c.571_572delinsA (p.Leu191IlefsTer2) | ClinVar dbSNP |
| 17 | g.61801279G>A | CA292286069 | BRIP1 | c.607C>T (p.Leu203Phe) c.1114C>T (p.Leu372Phe) n.2855C>T c.919-1980C>T (n.919-1980C>T) c.692C>T (n.692C>T) c.631C>T (p.Leu211Phe) c.571C>T (p.Leu191Phe) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.61801279G>C | CA400483902 | BRIP1 | c.607C>G (p.Leu203Val) c.1114C>G (p.Leu372Val) n.2855C>G c.919-1980C>G (n.919-1980C>G) c.692C>G (n.692C>G) c.631C>G (p.Leu211Val) c.571C>G (p.Leu191Val) | dbSNP |
| 17 | g.61801279G= | CA2269179533 | BRIP1 | c.607C= (p.Leu203=) c.1114C= (p.Leu372=) n.2855C= c.919-1980C= (n.919-1980C=) c.692C= (n.692C=) c.631C= (p.Leu211=) c.571C= (p.Leu191=) | |
| 17 | g.61801279G>T | CA193651 | BRIP1 | c.607C>A (p.Leu203Ile) c.1114C>A (p.Leu372Ile) n.2855C>A c.919-1980C>A (n.919-1980C>A) c.692C>A (n.692C>A) c.631C>A (p.Leu211Ile) c.571C>A (p.Leu191Ile) | ClinVar dbSNP gnomAD v4 |
| 17 | g.61801280A>C | CA400483903 | BRIP1 | c.606T>G (p.Tyr202Ter) c.1113T>G (p.Tyr371Ter) n.2854T>G c.919-1981T>G (n.919-1981T>G) c.691T>G (n.691T>G) c.630T>G (p.Tyr210Ter) c.570T>G (p.Tyr190Ter) |