UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.119672256_119677283del | CA1139532250 | BAG3 | c.509_*1del | |
| 10 | g.119674392_119683124del | CA2580082473 | ClinVar | ||
| 10 | g.119675031_119678711del | CA2580082474 | ClinVar | ||
| 10 | g.119676642_119677262del | CA2573145588 | BAG3 | c.1088_1708del (p.Glu363_Pro569del) c.1085_1705del (p.Glu362_Pro568del) | ClinVar dbSNP |
| 10 | g.119676819_119676829delinsTGCTGAAAGTG | CA1940196715 | BAG3 | c.1265_1275delinsTGCTGAAAGTG (p.Val422=) c.1262_1272delinsTGCTGAAAGTG (p.Val421=) | |
| 10 | g.119676821_119676830del | CA204624 | BAG3 | c.1267_1276del (p.Leu423LysfsTer14) c.1264_1273del (p.Leu422LysfsTer14) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.119676821C>A | CA378296948 | BAG3 | c.1267C>A (p.Leu423Met) c.1264C>A (p.Leu422Met) | |
| 10 | g.119676821C>G | CA378296949 | BAG3 | c.1267C>G (p.Leu423Val) c.1264C>G (p.Leu422Val) | |
| 10 | g.119676821C>T | CA471739434 | BAG3 | c.1267C>T (p.Leu423=) c.1264C>T (p.Leu422=) | |
| 10 | g.119676822T>A | CA378296950 | BAG3 | c.1268T>A (p.Leu423Gln) c.1265T>A (p.Leu422Gln) | |
| 10 | g.119676822T>C | CA378296951 | BAG3 | c.1268T>C (p.Leu423Pro) c.1265T>C (p.Leu422Pro) | |
| 10 | g.119676822T>G | CA378296952 | BAG3 | c.1268T>G (p.Leu423Arg) c.1265T>G (p.Leu422Arg) | |
| 10 | g.119676823G>A | CA471739437 | BAG3 | c.1269G>A (p.Leu423=) c.1266G>A (p.Leu422=) | |
| 10 | g.119676823G>C | CA471739438 | BAG3 | c.1269G>C (p.Leu423=) c.1266G>C (p.Leu422=) | dbSNP |
| 10 | g.119676823G= | CA1940196717 | BAG3 | c.1269G= (p.Leu423=) c.1266G= (p.Leu422=) | |
| 10 | g.119676823G>T | CA471739439 | BAG3 | c.1269G>T (p.Leu423=) c.1266G>T (p.Leu422=) | |
| 10 | g.119676824A>C | CA378296953 | BAG3 | c.1270A>C (p.Lys424Gln) c.1267A>C (p.Lys423Gln) | |
| 10 | g.119676824A>G | CA378296954 | BAG3 | c.1270A>G (p.Lys424Glu) c.1267A>G (p.Lys423Glu) | |
| 10 | g.119676824A>T | CA378296955 | BAG3 | c.1270A>T (p.Lys424Ter) c.1267A>T (p.Lys423Ter) | |
| 10 | g.119676825A>C | CA378296956 | BAG3 | c.1271A>C (p.Lys424Thr) c.1268A>C (p.Lys423Thr) | |
| 10 | g.119676825A>G | CA378296957 | BAG3 | c.1271A>G (p.Lys424Arg) c.1268A>G (p.Lys423Arg) | |
| 10 | g.119676825A>T | CA378296958 | BAG3 | c.1271A>T (p.Lys424Ile) c.1268A>T (p.Lys423Ile) | |
| 10 | g.119676826A>C | CA378296959 | BAG3 | c.1272A>C (p.Lys424Asn) c.1269A>C (p.Lys423Asn) | |
| 10 | g.119676826A>G | CA471739441 | BAG3 | c.1272A>G (p.Lys424=) c.1269A>G (p.Lys423=) | gnomAD v4 |
| 10 | g.119676826A>T | CA378296960 | BAG3 | c.1272A>T (p.Lys424Asn) c.1269A>T (p.Lys423Asn) | |
| 10 | g.119676827G>A | CA378296961 | BAG3 | c.1273G>A (p.Val425Met) c.1270G>A (p.Val424Met) | |
| 10 | g.119676827G>C | CA378296963 | BAG3 | c.1273G>C (p.Val425Leu) c.1270G>C (p.Val424Leu) | |
| 10 | g.119676827G>T | CA378296962 | BAG3 | c.1273G>T (p.Val425Leu) c.1270G>T (p.Val424Leu) | |
| 10 | g.119676828T>A | CA175313 | BAG3 | c.1274T>A (p.Val425Glu) c.1271T>A (p.Val424Glu) | ClinVar dbSNP gnomAD v4 |
| 10 | g.119676828T>C | CA378296964 | BAG3 | c.1274T>C (p.Val425Ala) c.1271T>C (p.Val424Ala) | |
| 10 | g.119676828T>G | CA378296965 | BAG3 | c.1274T>G (p.Val425Gly) c.1271T>G (p.Val424Gly) | |
| 10 | g.119676828T= | CA1940196718 | BAG3 | c.1274T= (p.Val425=) c.1271T= (p.Val424=) | |
| 10 | g.119676829G>A | CA471739446 | BAG3 | c.1275G>A (p.Val425=) c.1272G>A (p.Val424=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.119676829G>C | CA471739447 | BAG3 | c.1275G>C (p.Val425=) c.1272G>C (p.Val424=) | |
| 10 | g.119676829G= | CA1940196719 | BAG3 | c.1275G= (p.Val425=) c.1272G= (p.Val424=) | |
| 10 | g.119676829G>T | CA471739448 | BAG3 | c.1275G>T (p.Val425=) c.1272G>T (p.Val424=) | |
| 10 | g.119676830del | CA2580082437 | BAG3 | c.1276del (p.Glu426LysfsTer14) c.1273del (p.Glu425LysfsTer14) | ClinVar |
| 10 | g.119676830G>A | CA378296966 | BAG3 | c.1276G>A (p.Glu426Lys) c.1273G>A (p.Glu425Lys) | COSMIC |
| 10 | g.119676830G>C | CA378296967 | BAG3 | c.1276G>C (p.Glu426Gln) c.1273G>C (p.Glu425Gln) | |
| 10 | g.119676830G>T | CA378296968 | BAG3 | c.1276G>T (p.Glu426Ter) c.1273G>T (p.Glu425Ter) | |
| 10 | g.119676831A>C | CA378296969 | BAG3 | c.1277A>C (p.Glu426Ala) c.1274A>C (p.Glu425Ala) | |
| 10 | g.119676831A>G | CA378296970 | BAG3 | c.1277A>G (p.Glu426Gly) c.1274A>G (p.Glu425Gly) | |
| 10 | g.119676831A>T | CA378296971 | BAG3 | c.1277A>T (p.Glu426Val) c.1274A>T (p.Glu425Val) | |
| 10 | g.119676832A>C | CA378296972 | BAG3 | c.1278A>C (p.Glu426Asp) c.1275A>C (p.Glu425Asp) | |
| 10 | g.119676832A>G | CA471739451 | BAG3 | c.1278A>G (p.Glu426=) c.1275A>G (p.Glu425=) | |
| 10 | g.119676832A>T | CA378296973 | BAG3 | c.1278A>T (p.Glu426Asp) c.1275A>T (p.Glu425Asp) | dbSNP |
| 10 | g.119676833G>A | CA378296976 | BAG3 | c.1279G>A (p.Ala427Thr) c.1276G>A (p.Ala426Thr) | |
| 10 | g.119676833G>C | CA378296974 | BAG3 | c.1279G>C (p.Ala427Pro) c.1276G>C (p.Ala426Pro) | gnomAD v4 |
| 10 | g.119676833G>T | CA378296975 | BAG3 | c.1279G>T (p.Ala427Ser) c.1276G>T (p.Ala426Ser) | |
| 10 | g.119676834C>A | CA378296977 | BAG3 | c.1280C>A (p.Ala427Asp) c.1277C>A (p.Ala426Asp) |