Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.119672256_119677283del | CA1139532250 | BAG3 | c.509_*1del | |
10 | g.119672520_119672525del | CA2611160109 | BAG3 | c.773_778del (p.Arg258_Pro259del) c.599_604del (p.Arg200_Pro201del) | gnomAD v4 |
10 | g.119672519C>A | CA471740089 | BAG3 | c.772C>A (p.Arg258=) c.598C>A (p.Arg200=) | |
10 | g.119672519C= | CA1940193433 | BAG3 | c.772C= (p.Arg258=) c.598C= (p.Arg200=) | |
10 | g.119672519C>G | CA378295779 | BAG3 | c.772C>G (p.Arg258Gly) c.598C>G (p.Arg200Gly) | |
10 | g.119672519C>T | CA135025 | BAG3 | c.772C>T (p.Arg258Trp) c.598C>T (p.Arg200Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
10 | g.119672520G>A | CA5716408 | BAG3 | c.773G>A (p.Arg258Gln) c.599G>A (p.Arg200Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.119672520G>C | CA378295780 | BAG3 | c.773G>C (p.Arg258Pro) c.599G>C (p.Arg200Pro) | |
10 | g.119672520G= | CA1940193434 | BAG3 | c.773G= (p.Arg258=) c.599G= (p.Arg200=) | |
10 | g.119672520G>T | CA378295781 | BAG3 | c.773G>T (p.Arg258Leu) c.599G>T (p.Arg200Leu) | |
10 | g.119672521G>A | CA471740099 | BAG3 | c.774G>A (p.Arg258=) c.600G>A (p.Arg200=) | |
10 | g.119672521G>C | CA471740097 | BAG3 | c.774G>C (p.Arg258=) c.600G>C (p.Arg200=) | |
10 | g.119672521G>T | CA471740093 | BAG3 | c.774G>T (p.Arg258=) c.600G>T (p.Arg200=) | |
10 | g.119672522C>A | CA378295782 | BAG3 | c.775C>A (p.Pro259Thr) c.601C>A (p.Pro201Thr) | |
10 | g.119672522C= | CA1940193435 | BAG3 | c.775C= (p.Pro259=) c.601C= (p.Pro201=) | |
10 | g.119672522C>G | CA378295783 | BAG3 | c.775C>G (p.Pro259Ala) c.601C>G (p.Pro201Ala) | |
10 | g.119672522C>T | CA214221961 | BAG3 | c.775C>T (p.Pro259Ser) c.601C>T (p.Pro201Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.119672523C>A | CA378295784 | BAG3 | c.776C>A (p.Pro259His) c.602C>A (p.Pro201His) | |
10 | g.119672523C= | CA1940193438 | BAG3 | c.776C= (p.Pro259=) c.602C= (p.Pro201=) | |
10 | g.119672523C>G | CA378295785 | BAG3 | c.776C>G (p.Pro259Arg) c.602C>G (p.Pro201Arg) | |
10 | g.119672523C>T | CA5716409 | BAG3 | c.776C>T (p.Pro259Leu) c.602C>T (p.Pro201Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.119672524C>A | CA471740108 | BAG3 | c.777C>A (p.Pro259=) c.603C>A (p.Pro201=) | |
10 | g.119672524C= | CA1940193441 | BAG3 | c.777C= (p.Pro259=) c.603C= (p.Pro201=) | |
10 | g.119672524C>G | CA471740110 | BAG3 | c.777C>G (p.Pro259=) c.603C>G (p.Pro201=) | |
10 | g.119672524C>T | CA471740113 | BAG3 | c.777C>T (p.Pro259=) c.603C>T (p.Pro201=) | ClinVar dbSNP |
10 | g.119672525C>A | CA378295786 | BAG3 | c.778C>A (p.Leu260Met) c.604C>A (p.Leu202Met) | |
10 | g.119672525C= | CA1940193443 | BAG3 | c.778C= (p.Leu260=) c.604C= (p.Leu202=) | |
10 | g.119672525C>G | CA378295787 | BAG3 | c.778C>G (p.Leu260Val) c.604C>G (p.Leu202Val) | |
10 | g.119672525C>T | CA471740116 | BAG3 | c.778C>T (p.Leu260=) c.604C>T (p.Leu202=) | dbSNP |
10 | g.119672526T>A | CA378295788 | BAG3 | c.779T>A (p.Leu260Gln) c.605T>A (p.Leu202Gln) | |
10 | g.119672526T>C | CA378295789 | BAG3 | c.779T>C (p.Leu260Pro) c.605T>C (p.Leu202Pro) | gnomAD v4 |
10 | g.119672526T>G | CA378295790 | BAG3 | c.779T>G (p.Leu260Arg) c.605T>G (p.Leu202Arg) | |
10 | g.119672526_119672541delinsTGCGGGCGGCATCCCC | CA1940193445 | BAG3 | c.779_794delinsTGCGGGCGGCATCCCC (p.Leu260=) c.605_620delinsTGCGGGCGGCATCCCC (p.Leu202=) | |
10 | g.119672527G>A | CA471740121 | BAG3 | c.780G>A (p.Leu260=) c.606G>A (p.Leu202=) | ClinVar |
10 | g.119672527G>C | CA471740126 | BAG3 | c.780G>C (p.Leu260=) c.606G>C (p.Leu202=) | |
10 | g.119672527G>T | CA471740125 | BAG3 | c.780G>T (p.Leu260=) c.606G>T (p.Leu202=) | |
10 | g.119672528_119672533del | CA2611160110 | BAG3 | c.781_786del (p.Arg261_Ala262del) c.607_612del (p.Arg203_Ala204del) | gnomAD v4 |
10 | g.119672528_119672542del | CA1940193446 | BAG3 | c.781_795del (p.Arg261_Pro265del) c.607_621del (p.Arg203_Pro207del) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
10 | g.119672528C>A | CA471740127 | BAG3 | c.781C>A (p.Arg261=) c.607C>A (p.Arg203=) | gnomAD v4 |
10 | g.119672528C= | CA1940193448 | BAG3 | c.781C= (p.Arg261=) c.607C= (p.Arg203=) | |
10 | g.119672528C>G | CA378295791 | BAG3 | c.781C>G (p.Arg261Gly) c.607C>G (p.Arg203Gly) | gnomAD v4 |
10 | g.119672528C>T | CA175297 | BAG3 | c.781C>T (p.Arg261Trp) c.607C>T (p.Arg203Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
10 | g.119672529G>A | CA5716410 | BAG3 | c.782G>A (p.Arg261Gln) c.608G>A (p.Arg203Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
10 | g.119672529G>C | CA378295792 | BAG3 | c.782G>C (p.Arg261Pro) c.608G>C (p.Arg203Pro) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.119672529G= | CA1940193449 | BAG3 | c.782G= (p.Arg261=) c.608G= (p.Arg203=) | |
10 | g.119672529G>T | CA378295793 | BAG3 | c.782G>T (p.Arg261Leu) c.608G>T (p.Arg203Leu) | |
10 | g.119672530G>A | CA471740130 | BAG3 | c.783G>A (p.Arg261=) c.609G>A (p.Arg203=) | gnomAD v4 |
10 | g.119672530G>C | CA471740133 | BAG3 | c.783G>C (p.Arg261=) c.609G>C (p.Arg203=) | |
10 | g.119672530G>T | CA471740135 | BAG3 | c.783G>T (p.Arg261=) c.609G>T (p.Arg203=) | |
10 | g.119672531G>A | CA10581155 | BAG3 | c.784G>A (p.Ala262Thr) c.610G>A (p.Ala204Thr) | ClinVar dbSNP gnomAD v4 |