WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.32359467_32364093del | CA2580087377 | BRCA2 | c.7805+1538_8331+560del c.7436+1538_7962+560del c.272+1538_798+560del c.7805+1538_8339+560del c.370+1538_896+560del c.7709+1538_8235+560del | ClinVar |
| 13 | g.32363270_32363271del | CA025436 | BRCA2 | c.8068_8069del (p.Val2690PhefsTer2) c.7699_7700del (p.Val2567PhefsTer2) c.535_536del (p.Val179PhefsTer2) c.8076_8077del (n.8076_8077del) c.633_634del c.7972_7973del (p.Val2658PhefsTer2) | ClinVar dbSNP |
| 13 | g.32363268_32363269delinsGT | CA2082835036 | BRCA2 | c.8066_8067delinsGT (p.Cys2689=) c.7697_7698delinsGT (p.Cys2566=) c.533_534delinsGT (p.Cys178=) c.8074_8075delinsGT (n.8074_8075delinsGT) c.631_632delinsGT c.7970_7971delinsGT (p.Cys2657=) | |
| 13 | g.32363269del | CA025434 | BRCA2 | c.8067del (p.Cys2689TrpfsTer5) c.7698del (p.Cys2566TrpfsTer5) c.534del (p.Cys178TrpfsTer5) c.8075del (n.8075del) c.632del c.7971del (p.Cys2657TrpfsTer5) | ClinVar dbSNP |
| 13 | g.32363269T>A | CA025435 | BRCA2 | c.8067T>A (p.Cys2689Ter) c.7698T>A (p.Cys2566Ter) c.534T>A (p.Cys178Ter) c.8075T>A (n.8075T>A) c.632T>A c.7971T>A (p.Cys2657Ter) | ClinVar dbSNP |
| 13 | g.32363269T>C | CA483439544 | BRCA2 | c.8067T>C (p.Cys2689=) c.7698T>C (p.Cys2566=) c.534T>C (p.Cys178=) c.8075T>C (n.8075T>C) c.632T>C c.7971T>C (p.Cys2657=) | ClinVar dbSNP |
| 13 | g.32363269T>G | CA387749145 | BRCA2 | c.8067T>G (p.Cys2689Trp) c.7698T>G (p.Cys2566Trp) c.534T>G (p.Cys178Trp) c.8075T>G (n.8075T>G) c.632T>G c.7971T>G (p.Cys2657Trp) | dbSNP |
| 13 | g.32363269T= | CA2082835057 | BRCA2 | c.8067T= (p.Cys2689=) c.7698T= (p.Cys2566=) c.534T= (p.Cys178=) c.8075T= (n.8075T=) c.632T= c.7971T= (p.Cys2657=) | |
| 13 | g.32363269_32363270insTT | CA10589467 | BRCA2 | c.8067_8068insTT (p.Val2690LeufsTer5) c.7698_7699insTT (p.Val2567LeufsTer5) c.534_535insTT (p.Val179LeufsTer5) c.8075_8076insTT (n.8075_8076insTT) c.632_633insTT c.7971_7972insTT (p.Val2658LeufsTer5) | ClinVar dbSNP |
| 13 | g.32363270G>A | CA025437 | BRCA2 | c.8068G>A (p.Val2690Ile) c.7699G>A (p.Val2567Ile) c.535G>A (p.Val179Ile) c.8076G>A (n.8076G>A) c.633G>A c.7972G>A (p.Val2658Ile) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32363270G>C | CA387749152 | BRCA2 | c.8068G>C (p.Val2690Leu) c.7699G>C (p.Val2567Leu) c.535G>C (p.Val179Leu) c.8076G>C (n.8076G>C) c.633G>C c.7972G>C (p.Val2658Leu) | ClinVar dbSNP |
| 13 | g.32363270G= | CA2082835073 | BRCA2 | c.8068G= (p.Val2690=) c.7699G= (p.Val2567=) c.535G= (p.Val179=) c.8076G= (n.8076G=) c.633G= c.7972G= (p.Val2658=) | |
| 13 | g.32363270G>T | CA387749156 | BRCA2 | c.8068G>T (p.Val2690Phe) c.7699G>T (p.Val2567Phe) c.535G>T (p.Val179Phe) c.8076G>T (n.8076G>T) c.633G>T c.7972G>T (p.Val2658Phe) | |
| 13 | g.32363271T>A | CA387749158 | BRCA2 | c.8069T>A (p.Val2690Asp) c.7700T>A (p.Val2567Asp) c.536T>A (p.Val179Asp) c.8077T>A (n.8077T>A) c.634T>A c.7973T>A (p.Val2658Asp) | dbSNP |
| 13 | g.32363271T>C | CA387749160 | BRCA2 | c.8069T>C (p.Val2690Ala) c.7700T>C (p.Val2567Ala) c.536T>C (p.Val179Ala) c.8077T>C (n.8077T>C) c.634T>C c.7973T>C (p.Val2658Ala) | |
| 13 | g.32363271T>G | CA387749161 | BRCA2 | c.8069T>G (p.Val2690Gly) c.7700T>G (p.Val2567Gly) c.536T>G (p.Val179Gly) c.8077T>G (n.8077T>G) c.634T>G c.7973T>G (p.Val2658Gly) | |
| 13 | g.32363272_32363273dup | CA025438 | BRCA2 | c.8070_8071dup (p.Ser2691PhefsTer4) c.7701_7702dup (p.Ser2568PhefsTer4) c.537_538dup (p.Ser180PhefsTer4) c.8078_8079dup (n.8078_8079dup) c.635_636dup c.7974_7975dup (p.Ser2659PhefsTer4) | ClinVar dbSNP |
| 13 | g.32363272T>A | CA483439551 | BRCA2 | c.8070T>A (p.Val2690=) c.7701T>A (p.Val2567=) c.537T>A (p.Val179=) c.8078T>A (n.8078T>A) c.635T>A c.7974T>A (p.Val2658=) | dbSNP |
| 13 | g.32363272T>C | CA483439552 | BRCA2 | c.8070T>C (p.Val2690=) c.7701T>C (p.Val2567=) c.537T>C (p.Val179=) c.8078T>C (n.8078T>C) c.635T>C c.7974T>C (p.Val2658=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32363272T>G | CA483439553 | BRCA2 | c.8070T>G (p.Val2690=) c.7701T>G (p.Val2567=) c.537T>G (p.Val179=) c.8078T>G (n.8078T>G) c.635T>G c.7974T>G (p.Val2658=) | |
| 13 | g.32363272T= | CA2082835103 | BRCA2 | c.8070T= (p.Val2690=) c.7701T= (p.Val2567=) c.537T= (p.Val179=) c.8078T= (n.8078T=) c.635T= c.7974T= (p.Val2658=) | |
| 13 | g.32363272_32363274delinsTTC | CA2082835099 | BRCA2 | c.8070_8072delinsTTC (p.Val2690=) c.7701_7703delinsTTC (p.Val2567=) c.537_539delinsTTC (p.Val179=) c.8078_8080delinsTTC (n.8078_8080delinsTTC) c.635_637delinsTTC c.7974_7976delinsTTC (p.Val2658=) | |
| 13 | g.32363273T>A | CA387749165 | BRCA2 | c.8071T>A (p.Ser2691Thr) c.7702T>A (p.Ser2568Thr) c.538T>A (p.Ser180Thr) c.8079T>A (n.8079T>A) c.636T>A c.7975T>A (p.Ser2659Thr) | |
| 13 | g.32363273T>C | CA387749167 | BRCA2 | c.8071T>C (p.Ser2691Pro) c.7702T>C (p.Ser2568Pro) c.538T>C (p.Ser180Pro) c.8079T>C (n.8079T>C) c.636T>C c.7975T>C (p.Ser2659Pro) | |
| 13 | g.32363273T>G | CA387749170 | BRCA2 | c.8071T>G (p.Ser2691Ala) c.7702T>G (p.Ser2568Ala) c.538T>G (p.Ser180Ala) c.8079T>G (n.8079T>G) c.636T>G c.7975T>G (p.Ser2659Ala) | |
| 13 | g.32363274_32363275del | CA025439 | BRCA2 | c.8072_8073del (p.Ser2691Ter) c.7703_7704del (p.Ser2568Ter) c.539_540del (p.Ser180Ter) c.8080_8081del (n.8080_8081del) c.637_638del c.7976_7977del (p.Ser2659Ter) | ClinVar dbSNP |
| 13 | g.32363274C>A | CA387749179 | BRCA2 | c.8072C>A (p.Ser2691Tyr) c.7703C>A (p.Ser2568Tyr) c.539C>A (p.Ser180Tyr) c.8080C>A (n.8080C>A) c.637C>A c.7976C>A (p.Ser2659Tyr) | dbSNP |
| 13 | g.32363274C= | CA2082835125 | BRCA2 | c.8072C= (p.Ser2691=) c.7703C= (p.Ser2568=) c.539C= (p.Ser180=) c.8080C= (n.8080C=) c.637C= c.7976C= (p.Ser2659=) | |
| 13 | g.32363274C>G | CA387749182 | BRCA2 | c.8072C>G (p.Ser2691Cys) c.7703C>G (p.Ser2568Cys) c.539C>G (p.Ser180Cys) c.8080C>G (n.8080C>G) c.637C>G c.7976C>G (p.Ser2659Cys) | dbSNP |
| 13 | g.32363274C>T | CA025440 | BRCA2 | c.8072C>T (p.Ser2691Phe) c.7703C>T (p.Ser2568Phe) c.539C>T (p.Ser180Phe) c.8080C>T (n.8080C>T) c.637C>T c.7976C>T (p.Ser2659Phe) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32363275T>A | CA483439559 | BRCA2 | c.8073T>A (p.Ser2691=) c.7704T>A (p.Ser2568=) c.540T>A (p.Ser180=) c.8081T>A (n.8081T>A) c.638T>A c.7977T>A (p.Ser2659=) | dbSNP |
| 13 | g.32363275T>C | CA483439561 | BRCA2 | c.8073T>C (p.Ser2691=) c.7704T>C (p.Ser2568=) c.540T>C (p.Ser180=) c.8081T>C (n.8081T>C) c.638T>C c.7977T>C (p.Ser2659=) | |
| 13 | g.32363275T>G | CA483439562 | BRCA2 | c.8073T>G (p.Ser2691=) c.7704T>G (p.Ser2568=) c.540T>G (p.Ser180=) c.8081T>G (n.8081T>G) c.638T>G c.7977T>G (p.Ser2659=) | |
| 13 | g.32363276del | CA2695199718 | BRCA2 | c.8074del (p.Asp2692ThrfsTer2) c.7705del (p.Asp2569ThrfsTer2) c.541del (p.Asp181ThrfsTer2) c.8082del (n.8082del) c.639del c.7978del (p.Asp2660ThrfsTer2) | ClinVar |
| 13 | g.32363276G>A | CA387749195 | BRCA2 | c.8074G>A (p.Asp2692Asn) c.7705G>A (p.Asp2569Asn) c.541G>A (p.Asp181Asn) c.8082G>A (n.8082G>A) c.639G>A c.7978G>A (p.Asp2660Asn) | dbSNP |
| 13 | g.32363276G>C | CA387749191 | BRCA2 | c.8074G>C (p.Asp2692His) c.7705G>C (p.Asp2569His) c.541G>C (p.Asp181His) c.8082G>C (n.8082G>C) c.639G>C c.7978G>C (p.Asp2660His) | dbSNP |
| 13 | g.32363276G>T | CA387749193 | BRCA2 | c.8074G>T (p.Asp2692Tyr) c.7705G>T (p.Asp2569Tyr) c.541G>T (p.Asp181Tyr) c.8082G>T (n.8082G>T) c.639G>T c.7978G>T (p.Asp2660Tyr) | dbSNP |
| 13 | g.32363277A>C | CA387749197 | BRCA2 | c.8075A>C (p.Asp2692Ala) c.7706A>C (p.Asp2569Ala) c.542A>C (p.Asp181Ala) c.8083A>C (n.8083A>C) c.640A>C c.7979A>C (p.Asp2660Ala) | |
| 13 | g.32363277A>G | CA387749199 | BRCA2 | c.8075A>G (p.Asp2692Gly) c.7706A>G (p.Asp2569Gly) c.542A>G (p.Asp181Gly) c.8083A>G (n.8083A>G) c.640A>G c.7979A>G (p.Asp2660Gly) | ClinVar dbSNP |
| 13 | g.32363277A>T | CA387749201 | BRCA2 | c.8075A>T (p.Asp2692Val) c.7706A>T (p.Asp2569Val) c.542A>T (p.Asp181Val) c.8083A>T (n.8083A>T) c.640A>T c.7979A>T (p.Asp2660Val) | dbSNP |
| 13 | g.32363278C>A | CA387749206 | BRCA2 | c.8076C>A (p.Asp2692Glu) c.7707C>A (p.Asp2569Glu) c.543C>A (p.Asp181Glu) c.8084C>A (n.8084C>A) c.641C>A c.7980C>A (p.Asp2660Glu) | dbSNP gnomAD v4 |
| 13 | g.32363278C>G | CA387749207 | BRCA2 | c.8076C>G (p.Asp2692Glu) c.7707C>G (p.Asp2569Glu) c.543C>G (p.Asp181Glu) c.8084C>G (n.8084C>G) c.641C>G c.7980C>G (p.Asp2660Glu) | dbSNP |
| 13 | g.32363278C>T | CA483439567 | BRCA2 | c.8076C>T (p.Asp2692=) c.7707C>T (p.Asp2569=) c.543C>T (p.Asp181=) c.8084C>T (n.8084C>T) c.641C>T c.7980C>T (p.Asp2660=) | ClinVar dbSNP |
| 13 | g.32363279A= | CA2082835133 | BRCA2 | c.8077A= (p.Ile2693=) c.7708A= (p.Ile2570=) c.544A= (p.Ile182=) c.8085A= (n.8085A=) c.642A= c.7981A= (p.Ile2661=) | |
| 13 | g.32363279A>C | CA387749213 | BRCA2 | c.8077A>C (p.Ile2693Leu) c.7708A>C (p.Ile2570Leu) c.544A>C (p.Ile182Leu) c.8085A>C (n.8085A>C) c.642A>C c.7981A>C (p.Ile2661Leu) | |
| 13 | g.32363279A>G | CA16614227 | BRCA2 | c.8077A>G (p.Ile2693Val) c.7708A>G (p.Ile2570Val) c.544A>G (p.Ile182Val) c.8085A>G (n.8085A>G) c.642A>G c.7981A>G (p.Ile2661Val) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32363279A>T | CA387749214 | BRCA2 | c.8077A>T (p.Ile2693Leu) c.7708A>T (p.Ile2570Leu) c.544A>T (p.Ile182Leu) c.8085A>T (n.8085A>T) c.642A>T c.7981A>T (p.Ile2661Leu) | dbSNP |
| 13 | g.32363280T>A | CA025441 | BRCA2 | c.8078T>A (p.Ile2693Lys) c.7709T>A (p.Ile2570Lys) c.545T>A (p.Ile182Lys) c.8086T>A (n.8086T>A) c.643T>A c.7982T>A (p.Ile2661Lys) | ClinVar dbSNP |
| 13 | g.32363280T>C | CA387749216 | BRCA2 | c.8078T>C (p.Ile2693Thr) c.7709T>C (p.Ile2570Thr) c.545T>C (p.Ile182Thr) c.8086T>C (n.8086T>C) c.643T>C c.7982T>C (p.Ile2661Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32363280T>G | CA387749218 | BRCA2 | c.8078T>G (p.Ile2693Arg) c.7709T>G (p.Ile2570Arg) c.545T>G (p.Ile182Arg) c.8086T>G (n.8086T>G) c.643T>G c.7982T>G (p.Ile2661Arg) |