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.32370402_32370557del | CA2580087346 | BRCA2 | c.8332_8487del c.7963_8118del c.799_954del c.8340_8495del c.897_1052del c.8236_8391del | ClinVar |
| 13 | g.32370402_32380145del | CA2581463483 | BRCA2 | c.8332_9256del c.8332_*623del c.7963_8887del c.8332_*818del c.8332_9205del c.799_1672del c.8340_9264del c.897_2134del c.8236_9160del | |
| 13 | g.32370401_32370455dup | CA2727916131 | BRCA2 | c.8332-1_8385dup c.7963-1_8016dup c.799-1_852dup c.8340-1_8393dup c.897-1_950dup c.8236-1_8289dup | dbSNP |
| 13 | g.32370401_32370703dup | CA2499222326 | BRCA2 | c.8332-1_8487+146dup c.7963-1_8118+146dup c.799-1_954+146dup c.8340-1_8495+146dup c.897-1_1052+146dup c.8236-1_8391+146dup | ClinVar |
| 13 | g.32370443_32370454delinsACTTGGATTCTT | CA2082813380 | BRCA2 | c.8373_8384delinsACTTGGATTCTT (p.Lys2791=) c.8004_8015delinsACTTGGATTCTT (p.Lys2668=) c.840_851delinsACTTGGATTCTT (p.Lys280=) c.8381_8392delinsACTTGGATTCTT (n.8381_8392delinsACTTGGATTCTT) c.938_949delinsACTTGGATTCTT c.8277_8288delinsACTTGGATTCTT (p.Lys2759=) | |
| 13 | g.32370444_32370454delinsA | CA10589489 | BRCA2 | c.8374_8384delinsA (p.Leu2792IlefsTer26) c.8005_8015delinsA (p.Leu2669IlefsTer26) c.841_851delinsA (p.Leu281IlefsTer26) c.8382_8392delinsA (n.8382_8392delinsA) c.939_949delinsA c.8278_8288delinsA (p.Leu2760IlefsTer26) | ClinVar dbSNP |
| 13 | g.32370444_32370454delinsAAG | CA658823575 | BRCA2 | c.8374_8384delinsAAG (p.Leu2792LysfsTer3) c.8005_8015delinsAAG (p.Leu2669LysfsTer3) c.841_851delinsAAG (p.Leu281LysfsTer3) c.8382_8392delinsAAG (n.8382_8392delinsAAG) c.939_949delinsAAG c.8278_8288delinsAAG (p.Leu2760LysfsTer3) | ClinVar dbSNP |
| 13 | g.32370444_32370454delinsAGG | CA658653814 | BRCA2 | c.8374_8384delinsAGG (p.Leu2792ArgfsTer3) c.8005_8015delinsAGG (p.Leu2669ArgfsTer3) c.841_851delinsAGG (p.Leu281ArgfsTer3) c.8382_8392delinsAGG (n.8382_8392delinsAGG) c.939_949delinsAGG c.8278_8288delinsAGG (p.Leu2760ArgfsTer3) | ClinVar dbSNP |
| 13 | g.32370445T>A | CA387752449 | BRCA2 | c.8375T>A (p.Leu2792His) c.8006T>A (p.Leu2669His) c.842T>A (p.Leu281His) c.8383T>A (n.8383T>A) c.940T>A c.8279T>A (p.Leu2760His) | dbSNP |
| 13 | g.32370445T>C | CA025612 | BRCA2 | c.8375T>C (p.Leu2792Pro) c.8006T>C (p.Leu2669Pro) c.842T>C (p.Leu281Pro) c.8383T>C (n.8383T>C) c.940T>C c.8279T>C (p.Leu2760Pro) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.32370445T>G | CA387752450 | BRCA2 | c.8375T>G (p.Leu2792Arg) c.8006T>G (p.Leu2669Arg) c.842T>G (p.Leu281Arg) c.8383T>G (n.8383T>G) c.940T>G c.8279T>G (p.Leu2760Arg) | ClinVar dbSNP |
| 13 | g.32370445T= | CA2082813422 | BRCA2 | c.8375T= (p.Leu2792=) c.8006T= (p.Leu2669=) c.842T= (p.Leu281=) c.8383T= (n.8383T=) c.940T= c.8279T= (p.Leu2760=) | |
| 13 | g.32370446T>A | CA483261187 | BRCA2 | c.8376T>A (p.Leu2792=) c.8007T>A (p.Leu2669=) c.843T>A (p.Leu281=) c.8384T>A (n.8384T>A) c.941T>A c.8280T>A (p.Leu2760=) | |
| 13 | g.32370446T>C | CA483261189 | BRCA2 | c.8376T>C (p.Leu2792=) c.8007T>C (p.Leu2669=) c.843T>C (p.Leu281=) c.8384T>C (n.8384T>C) c.941T>C c.8280T>C (p.Leu2760=) | |
| 13 | g.32370446T>G | CA483261188 | BRCA2 | c.8376T>G (p.Leu2792=) c.8007T>G (p.Leu2669=) c.843T>G (p.Leu281=) c.8384T>G (n.8384T>G) c.941T>G c.8280T>G (p.Leu2760=) | gnomAD v4 |
| 13 | g.32370447G>A | CA025613 | BRCA2 | c.8377G>A (p.Gly2793Arg) c.8008G>A (p.Gly2670Arg) c.844G>A (p.Gly282Arg) c.8385G>A (n.8385G>A) c.942G>A c.8281G>A (p.Gly2761Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32370447G>C | CA387752451 | BRCA2 | c.8377G>C (p.Gly2793Arg) c.8008G>C (p.Gly2670Arg) c.844G>C (p.Gly282Arg) c.8385G>C (n.8385G>C) c.942G>C c.8281G>C (p.Gly2761Arg) | dbSNP |
| 13 | g.32370447G= | CA2082813438 | BRCA2 | c.8377G= (p.Gly2793=) c.8008G= (p.Gly2670=) c.844G= (p.Gly282=) c.8385G= (n.8385G=) c.942G= c.8281G= (p.Gly2761=) | |
| 13 | g.32370447G>T | CA10586588 | BRCA2 | c.8377G>T (p.Gly2793Ter) c.8008G>T (p.Gly2670Ter) c.844G>T (p.Gly282Ter) c.8385G>T (n.8385G>T) c.942G>T c.8281G>T (p.Gly2761Ter) | ClinVar dbSNP |
| 13 | g.32370447_32370448delinsGG | CA2082813440 | BRCA2 | c.8377_8378delinsGG (p.Gly2793=) c.8008_8009delinsGG (p.Gly2670=) c.844_845delinsGG (p.Gly282=) c.8385_8386delinsGG (n.8385_8386delinsGG) c.942_943delinsGG c.8281_8282delinsGG (p.Gly2761=) | |
| 13 | g.32370448dup | CA2580087358 | BRCA2 | c.8378dup (p.Phe2794IlefsTer4) c.8009dup (p.Phe2671IlefsTer4) c.845dup (p.Phe283IlefsTer4) c.8386dup (n.8386dup) c.943dup c.8282dup (p.Phe2762IlefsTer4) | ClinVar |
| 13 | g.32370448G>A | CA025614 | BRCA2 | c.8378G>A (p.Gly2793Glu) c.8009G>A (p.Gly2670Glu) c.845G>A (p.Gly282Glu) c.8386G>A (n.8386G>A) c.943G>A c.8282G>A (p.Gly2761Glu) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32370448G>C | CA387752452 | BRCA2 | c.8378G>C (p.Gly2793Ala) c.8009G>C (p.Gly2670Ala) c.845G>C (p.Gly282Ala) c.8386G>C (n.8386G>C) c.943G>C c.8282G>C (p.Gly2761Ala) | dbSNP |
| 13 | g.32370448G= | CA2082813467 | BRCA2 | c.8378G= (p.Gly2793=) c.8009G= (p.Gly2670=) c.845G= (p.Gly282=) c.8386G= (n.8386G=) c.943G= c.8282G= (p.Gly2761=) | |
| 13 | g.32370448G>T | CA025615 | BRCA2 | c.8378G>T (p.Gly2793Val) c.8009G>T (p.Gly2670Val) c.845G>T (p.Gly282Val) c.8386G>T (n.8386G>T) c.943G>T c.8282G>T (p.Gly2761Val) | ClinVar dbSNP |
| 13 | g.32370448delinsAA | CA10586589 | BRCA2 | c.8378delinsAA (p.Gly2793GlufsTer5) c.8009delinsAA (p.Gly2670GlufsTer5) c.845delinsAA (p.Gly282GlufsTer5) c.8386delinsAA (n.8386delinsAA) c.943delinsAA c.8282delinsAA (p.Gly2761GlufsTer5) | ClinVar dbSNP |
| 13 | g.32370449A= | CA2082813475 | BRCA2 | c.8379A= (p.Gly2793=) c.8010A= (p.Gly2670=) c.846A= (p.Gly282=) c.8387A= (n.8387A=) c.944A= c.8283A= (p.Gly2761=) | |
| 13 | g.32370449A>C | CA483261190 | BRCA2 | c.8379A>C (p.Gly2793=) c.8010A>C (p.Gly2670=) c.846A>C (p.Gly282=) c.8387A>C (n.8387A>C) c.944A>C c.8283A>C (p.Gly2761=) | dbSNP |
| 13 | g.32370449A>G | CA483261191 | BRCA2 | c.8379A>G (p.Gly2793=) c.8010A>G (p.Gly2670=) c.846A>G (p.Gly282=) c.8387A>G (n.8387A>G) c.944A>G c.8283A>G (p.Gly2761=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32370449A>T | CA483261192 | BRCA2 | c.8379A>T (p.Gly2793=) c.8010A>T (p.Gly2670=) c.846A>T (p.Gly282=) c.8387A>T (n.8387A>T) c.944A>T c.8283A>T (p.Gly2761=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32370450T>A | CA387752453 | BRCA2 | c.8380T>A (p.Phe2794Ile) c.8011T>A (p.Phe2671Ile) c.847T>A (p.Phe283Ile) c.8388T>A (n.8388T>A) c.945T>A c.8284T>A (p.Phe2762Ile) | ClinVar dbSNP |
| 13 | g.32370450T>C | CA387752454 | BRCA2 | c.8380T>C (p.Phe2794Leu) c.8011T>C (p.Phe2671Leu) c.847T>C (p.Phe283Leu) c.8388T>C (n.8388T>C) c.945T>C c.8284T>C (p.Phe2762Leu) | |
| 13 | g.32370450T>G | CA387752455 | BRCA2 | c.8380T>G (p.Phe2794Val) c.8011T>G (p.Phe2671Val) c.847T>G (p.Phe283Val) c.8388T>G (n.8388T>G) c.945T>G c.8284T>G (p.Phe2762Val) | |
| 13 | g.32370450T= | CA2082813483 | BRCA2 | c.8380T= (p.Phe2794=) c.8011T= (p.Phe2671=) c.847T= (p.Phe283=) c.8388T= (n.8388T=) c.945T= c.8284T= (p.Phe2762=) | |
| 13 | g.32370451T>A | CA387752458 | BRCA2 | c.8381T>A (p.Phe2794Tyr) c.8012T>A (p.Phe2671Tyr) c.848T>A (p.Phe283Tyr) c.8389T>A (n.8389T>A) c.946T>A c.8285T>A (p.Phe2762Tyr) | dbSNP |
| 13 | g.32370451T>C | CA387752456 | BRCA2 | c.8381T>C (p.Phe2794Ser) c.8012T>C (p.Phe2671Ser) c.848T>C (p.Phe283Ser) c.8389T>C (n.8389T>C) c.946T>C c.8285T>C (p.Phe2762Ser) | dbSNP |
| 13 | g.32370451T>G | CA387752457 | BRCA2 | c.8381T>G (p.Phe2794Cys) c.8012T>G (p.Phe2671Cys) c.848T>G (p.Phe283Cys) c.8389T>G (n.8389T>G) c.946T>G c.8285T>G (p.Phe2762Cys) | |
| 13 | g.32370452C>A | CA387752459 | BRCA2 | c.8382C>A (p.Phe2794Leu) c.8013C>A (p.Phe2671Leu) c.849C>A (p.Phe283Leu) c.8390C>A (n.8390C>A) c.947C>A c.8286C>A (p.Phe2762Leu) | |
| 13 | g.32370452C= | CA2082813485 | BRCA2 | c.8382C= (p.Phe2794=) c.8013C= (p.Phe2671=) c.849C= (p.Phe283=) c.8390C= (n.8390C=) c.947C= c.8286C= (p.Phe2762=) | |
| 13 | g.32370452C>G | CA025617 | BRCA2 | c.8382C>G (p.Phe2794Leu) c.8013C>G (p.Phe2671Leu) c.849C>G (p.Phe283Leu) c.8390C>G (n.8390C>G) c.947C>G c.8286C>G (p.Phe2762Leu) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
| 13 | g.32370452C>T | CA483261193 | BRCA2 | c.8382C>T (p.Phe2794=) c.8013C>T (p.Phe2671=) c.849C>T (p.Phe283=) c.8390C>T (n.8390C>T) c.947C>T c.8286C>T (p.Phe2762=) | dbSNP |
| 13 | g.32370452_32370453delinsCT | CA2082813489 | BRCA2 | c.8382_8383delinsCT (p.Phe2794=) c.8013_8014delinsCT (p.Phe2671=) c.849_850delinsCT (p.Phe283=) c.8390_8391delinsCT (n.8390_8391delinsCT) c.947_948delinsCT c.8286_8287delinsCT (p.Phe2762=) | |
| 13 | g.32370453T>A | CA6941225 | BRCA2 | c.8383T>A (p.Phe2795Ile) c.8014T>A (p.Phe2672Ile) c.850T>A (p.Phe284Ile) c.8391T>A (n.8391T>A) c.948T>A c.8287T>A (p.Phe2763Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32370453T>C | CA387752460 | BRCA2 | c.8383T>C (p.Phe2795Leu) c.8014T>C (p.Phe2672Leu) c.850T>C (p.Phe284Leu) c.8391T>C (n.8391T>C) c.948T>C c.8287T>C (p.Phe2763Leu) | dbSNP |
| 13 | g.32370453T>G | CA387752461 | BRCA2 | c.8383T>G (p.Phe2795Val) c.8014T>G (p.Phe2672Val) c.850T>G (p.Phe284Val) c.8391T>G (n.8391T>G) c.948T>G c.8287T>G (p.Phe2763Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32370453T= | CA2082813505 | BRCA2 | c.8383T= (p.Phe2795=) c.8014T= (p.Phe2672=) c.850T= (p.Phe284=) c.8391T= (n.8391T=) c.948T= c.8287T= (p.Phe2763=) | |
| 13 | g.32370455del | CA10589490 | BRCA2 | c.8385del (p.Pro2796LeufsTer25) c.8016del (p.Pro2673LeufsTer25) c.852del (p.Pro285LeufsTer25) c.8393del (n.8393del) c.950del c.8289del (p.Pro2764LeufsTer25) | ClinVar dbSNP |
| 13 | g.32370453_32370465delinsTTTCCTGACCCTA | CA2082813502 | BRCA2 | c.8383_8395delinsTTTCCTGACCCTA (p.Phe2795=) c.8014_8026delinsTTTCCTGACCCTA (p.Phe2672=) c.850_862delinsTTTCCTGACCCTA (p.Phe284=) c.8391_8403delinsTTTCCTGACCCTA (n.8391_8403delinsTTTCCTGACCCTA) c.948_960delinsTTTCCTGACCCTA c.8287_8299delinsTTTCCTGACCCTA (p.Phe2763=) | |
| 13 | g.32370454T>A | CA387752462 | BRCA2 | c.8384T>A (p.Phe2795Tyr) c.8015T>A (p.Phe2672Tyr) c.851T>A (p.Phe284Tyr) c.8392T>A (n.8392T>A) c.949T>A c.8288T>A (p.Phe2763Tyr) | |
| 13 | g.32370454T>C | CA387752463 | BRCA2 | c.8384T>C (p.Phe2795Ser) c.8015T>C (p.Phe2672Ser) c.851T>C (p.Phe284Ser) c.8392T>C (n.8392T>C) c.949T>C c.8288T>C (p.Phe2763Ser) |