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.119676718G>A | CA471739325 | BAG3 | c.1164G>A (p.Lys388=) c.1161G>A (p.Lys387=) | |
10 | g.119676718G>C | CA378296751 | BAG3 | c.1164G>C (p.Lys388Asn) c.1161G>C (p.Lys387Asn) | |
10 | g.119676718G>T | CA378296752 | BAG3 | c.1164G>T (p.Lys388Asn) c.1161G>T (p.Lys387Asn) | |
10 | g.119676719A= | CA1940196662 | BAG3 | c.1165A= (p.Ser389=) c.1162A= (p.Ser388=) | |
10 | g.119676719A>C | CA378296753 | BAG3 | c.1165A>C (p.Ser389Arg) c.1162A>C (p.Ser388Arg) | |
10 | g.119676719A>G | CA5716501 | BAG3 | c.1165A>G (p.Ser389Gly) c.1162A>G (p.Ser388Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.119676719A>T | CA378296754 | BAG3 | c.1165A>T (p.Ser389Cys) c.1162A>T (p.Ser388Cys) | |
10 | g.119676720G>A | CA308218 | BAG3 | c.1166G>A (p.Ser389Asn) c.1163G>A (p.Ser388Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.119676720G>C | CA378296756 | BAG3 | c.1166G>C (p.Ser389Thr) c.1163G>C (p.Ser388Thr) | |
10 | g.119676720G= | CA1940196663 | BAG3 | c.1166G= (p.Ser389=) c.1163G= (p.Ser388=) | |
10 | g.119676720G>T | CA378296755 | BAG3 | c.1166G>T (p.Ser389Ile) c.1163G>T (p.Ser388Ile) | |
10 | g.119676721T>A | CA378296757 | BAG3 | c.1167T>A (p.Ser389Arg) c.1164T>A (p.Ser388Arg) | |
10 | g.119676721T>C | CA471739327 | BAG3 | c.1167T>C (p.Ser389=) c.1164T>C (p.Ser388=) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.119676721T>G | CA5716502 | BAG3 | c.1167T>G (p.Ser389Arg) c.1164T>G (p.Ser388Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.119676721T= | CA1940196664 | BAG3 | c.1167T= (p.Ser389=) c.1164T= (p.Ser388=) | |
10 | g.119676722G>A | CA378296758 | BAG3 | c.1168G>A (p.Val390Met) c.1165G>A (p.Val389Met) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
10 | g.119676722G>C | CA378296759 | BAG3 | c.1168G>C (p.Val390Leu) c.1165G>C (p.Val389Leu) | |
10 | g.119676722G= | CA1940196665 | BAG3 | c.1168G= (p.Val390=) c.1165G= (p.Val389=) | |
10 | g.119676722G>T | CA378296760 | BAG3 | c.1168G>T (p.Val390Leu) c.1165G>T (p.Val389Leu) | |
10 | g.119676723T>A | CA378296761 | BAG3 | c.1169T>A (p.Val390Glu) c.1166T>A (p.Val389Glu) | |
10 | g.119676723T>C | CA378296762 | BAG3 | c.1169T>C (p.Val390Ala) c.1166T>C (p.Val389Ala) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
10 | g.119676723T>G | CA378296763 | BAG3 | c.1169T>G (p.Val390Gly) c.1166T>G (p.Val389Gly) | ClinVar |
10 | g.119676723T= | CA1940196666 | BAG3 | c.1169T= (p.Val390=) c.1166T= (p.Val389=) | |
10 | g.119676724G>A | CA471739330 | BAG3 | c.1170G>A (p.Val390=) c.1167G>A (p.Val389=) | |
10 | g.119676724G>C | CA471739332 | BAG3 | c.1170G>C (p.Val390=) c.1167G>C (p.Val389=) | |
10 | g.119676724G>T | CA471739333 | BAG3 | c.1170G>T (p.Val390=) c.1167G>T (p.Val389=) | |
10 | g.119676725G>A | CA378296764 | BAG3 | c.1171G>A (p.Ala391Thr) c.1168G>A (p.Ala390Thr) | |
10 | g.119676725G>C | CA378296765 | BAG3 | c.1171G>C (p.Ala391Pro) c.1168G>C (p.Ala390Pro) | gnomAD v4 |
10 | g.119676725G>T | CA378296766 | BAG3 | c.1171G>T (p.Ala391Ser) c.1168G>T (p.Ala390Ser) | |
10 | g.119676726C>A | CA378296767 | BAG3 | c.1172C>A (p.Ala391Asp) c.1169C>A (p.Ala390Asp) | |
10 | g.119676726C= | CA1940196667 | BAG3 | c.1172C= (p.Ala391=) c.1169C= (p.Ala390=) | |
10 | g.119676726C>G | CA5716503 | BAG3 | c.1172C>G (p.Ala391Gly) c.1169C>G (p.Ala390Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.119676726C>T | CA237058 | BAG3 | c.1172C>T (p.Ala391Val) c.1169C>T (p.Ala390Val) | ClinVar dbSNP gnomAD v4 |
10 | g.119676727T>A | CA471739336 | BAG3 | c.1173T>A (p.Ala391=) c.1170T>A (p.Ala390=) | |
10 | g.119676727T>C | CA471739339 | BAG3 | c.1173T>C (p.Ala391=) c.1170T>C (p.Ala390=) | |
10 | g.119676727T>G | CA471739338 | BAG3 | c.1173T>G (p.Ala391=) c.1170T>G (p.Ala390=) | ClinVar |
10 | g.119676728A>C | CA378296770 | BAG3 | c.1174A>C (p.Thr392Pro) c.1171A>C (p.Thr391Pro) | |
10 | g.119676728A>G | CA378296769 | BAG3 | c.1174A>G (p.Thr392Ala) c.1171A>G (p.Thr391Ala) | ClinVar dbSNP gnomAD v4 |
10 | g.119676728A>T | CA378296768 | BAG3 | c.1174A>T (p.Thr392Ser) c.1171A>T (p.Thr391Ser) | |
10 | g.119676729C>A | CA378296771 | BAG3 | c.1175C>A (p.Thr392Lys) c.1172C>A (p.Thr391Lys) | dbSNP |
10 | g.119676729C= | CA1940196668 | BAG3 | c.1175C= (p.Thr392=) c.1172C= (p.Thr391=) | |
10 | g.119676729C>G | CA378296772 | BAG3 | c.1175C>G (p.Thr392Arg) c.1172C>G (p.Thr391Arg) | |
10 | g.119676729C>T | CA5716504 | BAG3 | c.1175C>T (p.Thr392Ile) c.1172C>T (p.Thr391Ile) | dbSNP ExAC gnomAD v4 |
10 | g.119676729_119676732delinsCAGA | CA1940196669 | BAG3 | c.1175_1178delinsCAGA (p.Thr392=) c.1172_1175delinsCAGA (p.Thr391=) | |
10 | g.119676730A>C | CA471739340 | BAG3 | c.1176A>C (p.Thr392=) c.1173A>C (p.Thr391=) | |
10 | g.119676730A>G | CA471739342 | BAG3 | c.1176A>G (p.Thr392=) c.1173A>G (p.Thr391=) | ClinVar gnomAD v4 |