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.119676850A= | CA1940196730 | BAG3 | c.1296A= (p.Val432=) c.1293A= (p.Val431=) | |
10 | g.119676850A>C | CA471739473 | BAG3 | c.1296A>C (p.Val432=) c.1293A>C (p.Val431=) | |
10 | g.119676850A>G | CA282458 | BAG3 | c.1296A>G (p.Val432=) c.1293A>G (p.Val431=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.119676850A>T | CA471739474 | BAG3 | c.1296A>T (p.Val432=) c.1293A>T (p.Val431=) | |
10 | g.119676850_119676851delinsGT | CA658656099 | BAG3 | c.1296_1297delinsGT (p.Val433Ter) c.1293_1294delinsGT (p.Val432Ter) | ClinVar |
10 | g.119676850_119676852delinsGCG | CA2580082438 | BAG3 | c.1296_1298delinsGCG (p.Gln433Arg) c.1293_1295delinsGCG (p.Gln432Arg) | ClinVar |
10 | g.119676851C>A | CA378297012 | BAG3 | c.1297C>A (p.Gln433Lys) c.1294C>A (p.Gln432Lys) | |
10 | g.119676851C= | CA1940196731 | BAG3 | c.1297C= (p.Gln433=) c.1294C= (p.Gln432=) | |
10 | g.119676851C>G | CA378297013 | BAG3 | c.1297C>G (p.Gln433Glu) c.1294C>G (p.Gln432Glu) | |
10 | g.119676851C>T | CA346200 | BAG3 | c.1297C>T (p.Gln433Ter) c.1294C>T (p.Gln432Ter) | ClinVar dbSNP |
10 | g.119676852A= | CA1940196732 | BAG3 | c.1298A= (p.Gln433=) c.1295A= (p.Gln432=) | |
10 | g.119676852A>C | CA378297015 | BAG3 | c.1298A>C (p.Gln433Pro) c.1295A>C (p.Gln432Pro) | |
10 | g.119676852A>G | CA10634766 | BAG3 | c.1298A>G (p.Gln433Arg) c.1295A>G (p.Gln432Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
10 | g.119676852A>T | CA378297014 | BAG3 | c.1298A>T (p.Gln433Leu) c.1295A>T (p.Gln432Leu) | |
10 | g.119676853G>A | CA214225130 | BAG3 | c.1299G>A (p.Gln433=) c.1296G>A (p.Gln432=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
10 | g.119676853G>C | CA378297016 | BAG3 | c.1299G>C (p.Gln433His) c.1296G>C (p.Gln432His) | |
10 | g.119676853G= | CA1940196733 | BAG3 | c.1299G= (p.Gln433=) c.1296G= (p.Gln432=) | |
10 | g.119676853G>T | CA378297017 | BAG3 | c.1299G>T (p.Gln433His) c.1296G>T (p.Gln432His) | |
10 | g.119676854G>A | CA378297018 | BAG3 | c.1300G>A (p.Gly434Arg) c.1297G>A (p.Gly433Arg) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
10 | g.119676854G>C | CA378297019 | BAG3 | c.1300G>C (p.Gly434Arg) c.1297G>C (p.Gly433Arg) | |
10 | g.119676854G= | CA1940196734 | BAG3 | c.1300G= (p.Gly434=) c.1297G= (p.Gly433=) | |
10 | g.119676854G>T | CA378297020 | BAG3 | c.1300G>T (p.Gly434Trp) c.1297G>T (p.Gly433Trp) | |
10 | g.119676854_119676863dup | CA1139532248 | BAG3 | c.1300_1309dup (p.Gln437ArgfsTer10) c.1297_1306dup (p.Gln436ArgfsTer10) | dbSNP |
10 | g.119676855G>A | CA378297021 | BAG3 | c.1301G>A (p.Gly434Glu) c.1298G>A (p.Gly433Glu) | gnomAD v4 |
10 | g.119676855G>C | CA378297022 | BAG3 | c.1301G>C (p.Gly434Ala) c.1298G>C (p.Gly433Ala) | |
10 | g.119676855G>T | CA378297023 | BAG3 | c.1301G>T (p.Gly434Val) c.1298G>T (p.Gly433Val) | |
10 | g.119676856G>A | CA471739479 | BAG3 | c.1302G>A (p.Gly434=) c.1299G>A (p.Gly433=) | ClinVar dbSNP gnomAD v4 |
10 | g.119676856G>C | CA471739480 | BAG3 | c.1302G>C (p.Gly434=) c.1299G>C (p.Gly433=) | |
10 | g.119676856G= | CA1940196735 | BAG3 | c.1302G= (p.Gly434=) c.1299G= (p.Gly433=) | |
10 | g.119676856G>T | CA471739481 | BAG3 | c.1302G>T (p.Gly434=) c.1299G>T (p.Gly433=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
10 | g.119676857C>A | CA378297024 | BAG3 | c.1303C>A (p.Leu435Met) c.1300C>A (p.Leu434Met) | gnomAD v4 |
10 | g.119676857C= | CA1940196736 | BAG3 | c.1303C= (p.Leu435=) c.1300C= (p.Leu434=) | |
10 | g.119676857C>G | CA378297025 | BAG3 | c.1303C>G (p.Leu435Val) c.1300C>G (p.Leu434Val) | |
10 | g.119676857C>T | CA5716530 | BAG3 | c.1303C>T (p.Leu435=) c.1300C>T (p.Leu434=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.119676858T>A | CA378297027 | BAG3 | c.1304T>A (p.Leu435Gln) c.1301T>A (p.Leu434Gln) | |
10 | g.119676858T>C | CA378297028 | BAG3 | c.1304T>C (p.Leu435Pro) c.1301T>C (p.Leu434Pro) | |
10 | g.119676858T>G | CA378297026 | BAG3 | c.1304T>G (p.Leu435Arg) c.1301T>G (p.Leu434Arg) | |
10 | g.119676859G>A | CA471739483 | BAG3 | c.1305G>A (p.Leu435=) c.1302G>A (p.Leu434=) | |
10 | g.119676859G>C | CA471739485 | BAG3 | c.1305G>C (p.Leu435=) c.1302G>C (p.Leu434=) | |
10 | g.119676859G>T | CA471739486 | BAG3 | c.1305G>T (p.Leu435=) c.1302G>T (p.Leu434=) | COSMIC |
10 | g.119676860G>A | CA378297029 | BAG3 | c.1306G>A (p.Glu436Lys) c.1303G>A (p.Glu435Lys) | |
10 | g.119676860G>C | CA378297030 | BAG3 | c.1306G>C (p.Glu436Gln) c.1303G>C (p.Glu435Gln) | |
10 | g.119676860G>T | CA378297031 | BAG3 | c.1306G>T (p.Glu436Ter) c.1303G>T (p.Glu435Ter) | ClinVar |
10 | g.119676861A= | CA1940196737 | BAG3 | c.1307A= (p.Glu436=) c.1304A= (p.Glu435=) | |
10 | g.119676861A>C | CA378297032 | BAG3 | c.1307A>C (p.Glu436Ala) c.1304A>C (p.Glu435Ala) | |
10 | g.119676861A>G | CA378297033 | BAG3 | c.1307A>G (p.Glu436Gly) c.1304A>G (p.Glu435Gly) | ClinVar dbSNP |