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.119670048G>A | CA5716307 | BAG3 | c.378G>A (p.Ala126=) c.204G>A (p.Ala68=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 10 | g.119670048G>C | CA471634534 | BAG3 | c.378G>C (p.Ala126=) c.204G>C (p.Ala68=) | ClinVar |
| 10 | g.119670048G= | CA1940191134 | BAG3 | c.378G= (p.Ala126=) c.204G= (p.Ala68=) | |
| 10 | g.119670048G>T | CA471634533 | BAG3 | c.378G>T (p.Ala126=) c.204G>T (p.Ala68=) | |
| 10 | g.119670049G>A | CA378294974 | BAG3 | c.379G>A (p.Ala127Thr) c.205G>A (p.Ala69Thr) | COSMIC |
| 10 | g.119670049G>C | CA378294975 | BAG3 | c.379G>C (p.Ala127Pro) c.205G>C (p.Ala69Pro) | |
| 10 | g.119670049G>T | CA378294976 | BAG3 | c.379G>T (p.Ala127Ser) c.205G>T (p.Ala69Ser) | |
| 10 | g.119670050C>A | CA378294977 | BAG3 | c.380C>A (p.Ala127Glu) c.206C>A (p.Ala69Glu) | |
| 10 | g.119670050C>G | CA378294978 | BAG3 | c.380C>G (p.Ala127Gly) c.206C>G (p.Ala69Gly) | |
| 10 | g.119670050C>T | CA378294979 | BAG3 | c.380C>T (p.Ala127Val) c.206C>T (p.Ala69Val) | |
| 10 | g.119670051A= | CA1940191140 | BAG3 | c.381A= (p.Ala127=) c.207A= (p.Ala69=) | |
| 10 | g.119670051A>C | CA471634535 | BAG3 | c.381A>C (p.Ala127=) c.207A>C (p.Ala69=) | |
| 10 | g.119670051A>G | CA471634536 | BAG3 | c.381A>G (p.Ala127=) c.207A>G (p.Ala69=) | dbSNP gnomAD v4 |
| 10 | g.119670051A>T | CA5716308 | BAG3 | c.381A>T (p.Ala127=) c.207A>T (p.Ala69=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.119670051_119670052dup | CA1139532239 | BAG3 | c.381_382dup (p.Ala128GlufsTer?) c.207_208dup (p.Ala70GlufsTer?) | dbSNP |
| 10 | g.119670052G>A | CA378294980 | BAG3 | c.382G>A (p.Ala128Thr) c.208G>A (p.Ala70Thr) | |
| 10 | g.119670052G>C | CA378294981 | BAG3 | c.382G>C (p.Ala128Pro) c.208G>C (p.Ala70Pro) | |
| 10 | g.119670052G>T | CA378294982 | BAG3 | c.382G>T (p.Ala128Ser) c.208G>T (p.Ala70Ser) | |
| 10 | g.119670053C>A | CA214220007 | BAG3 | c.383C>A (p.Ala128Glu) c.209C>A (p.Ala70Glu) | dbSNP |
| 10 | g.119670053C= | CA1940191144 | BAG3 | c.383C= (p.Ala128=) c.209C= (p.Ala70=) | |
| 10 | g.119670053C>G | CA378294983 | BAG3 | c.383C>G (p.Ala128Gly) c.209C>G (p.Ala70Gly) | |
| 10 | g.119670053C>T | CA378294984 | BAG3 | c.383C>T (p.Ala128Val) c.209C>T (p.Ala70Val) | gnomAD v4 |
| 10 | g.119670054A>C | CA471634537 | BAG3 | c.384A>C (p.Ala128=) c.210A>C (p.Ala70=) | |
| 10 | g.119670054A>G | CA471634538 | BAG3 | c.384A>G (p.Ala128=) c.210A>G (p.Ala70=) | ClinVar gnomAD v4 |
| 10 | g.119670054A>T | CA471634539 | BAG3 | c.384A>T (p.Ala128=) c.210A>T (p.Ala70=) | |
| 10 | g.119670055G>A | CA378294985 | BAG3 | c.385G>A (p.Ala129Thr) c.211G>A (p.Ala71Thr) | |
| 10 | g.119670055G>C | CA378294987 | BAG3 | c.385G>C (p.Ala129Pro) c.211G>C (p.Ala71Pro) | |
| 10 | g.119670055G>T | CA378294986 | BAG3 | c.385G>T (p.Ala129Ser) c.211G>T (p.Ala71Ser) | |
| 10 | g.119670056C>A | CA378294988 | BAG3 | c.386C>A (p.Ala129Glu) c.212C>A (p.Ala71Glu) | |
| 10 | g.119670056C= | CA1940191147 | BAG3 | c.386C= (p.Ala129=) c.212C= (p.Ala71=) | |
| 10 | g.119670056C>G | CA378294989 | BAG3 | c.386C>G (p.Ala129Gly) c.212C>G (p.Ala71Gly) | |
| 10 | g.119670056C>T | CA10576776 | BAG3 | c.386C>T (p.Ala129Val) c.212C>T (p.Ala71Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 10 | g.119670057G>A | CA5716309 | BAG3 | c.387G>A (p.Ala129=) c.213G>A (p.Ala71=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.119670057G>C | CA471634540 | BAG3 | c.387G>C (p.Ala129=) c.213G>C (p.Ala71=) | |
| 10 | g.119670057G= | CA1940191152 | BAG3 | c.387G= (p.Ala129=) c.213G= (p.Ala71=) | |
| 10 | g.119670057G>T | CA471634541 | BAG3 | c.387G>T (p.Ala129=) c.213G>T (p.Ala71=) | |
| 10 | g.119670058G>A | CA378294990 | BAG3 | c.388G>A (p.Ala130Thr) c.214G>A (p.Ala72Thr) | |
| 10 | g.119670058G>C | CA378294991 | BAG3 | c.388G>C (p.Ala130Pro) c.214G>C (p.Ala72Pro) | |
| 10 | g.119670058G= | CA1940191156 | BAG3 | c.388G= (p.Ala130=) c.214G= (p.Ala72=) | |
| 10 | g.119670058G>T | CA378294992 | BAG3 | c.388G>T (p.Ala130Ser) c.214G>T (p.Ala72Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.119670059C>A | CA5716310 | BAG3 | c.389C>A (p.Ala130Asp) c.215C>A (p.Ala72Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.119670059C= | CA1940191160 | BAG3 | c.389C= (p.Ala130=) c.215C= (p.Ala72=) | |
| 10 | g.119670059C>G | CA378294993 | BAG3 | c.389C>G (p.Ala130Gly) c.215C>G (p.Ala72Gly) | |
| 10 | g.119670059C>T | CA378294994 | BAG3 | c.389C>T (p.Ala130Val) c.215C>T (p.Ala72Val) | gnomAD v4 |
| 10 | g.119670060T>A | CA471634542 | BAG3 | c.390T>A (p.Ala130=) c.216T>A (p.Ala72=) | |
| 10 | g.119670060T>C | CA471634543 | BAG3 | c.390T>C (p.Ala130=) c.216T>C (p.Ala72=) | gnomAD v4 |
| 10 | g.119670060T>G | CA471634544 | BAG3 | c.390T>G (p.Ala130=) c.216T>G (p.Ala72=) | |
| 10 | g.119670061C>A | CA378294995 | BAG3 | c.391C>A (p.Pro131Thr) c.217C>A (p.Pro73Thr) | |
| 10 | g.119670061C= | CA1940191162 | BAG3 | c.391C= (p.Pro131=) c.217C= (p.Pro73=) | |
| 10 | g.119670061C>G | CA5716311 | BAG3 | c.391C>G (p.Pro131Ala) c.217C>G (p.Pro73Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.119670061C>T | CA378294996 | BAG3 | c.391C>T (p.Pro131Ser) c.217C>T (p.Pro73Ser) | gnomAD v4 |
| 10 | g.119670062C>A | CA378294997 | BAG3 | c.392C>A (p.Pro131His) c.218C>A (p.Pro73His) | |
| 10 | g.119670062C= | CA1940191165 | BAG3 | c.392C= (p.Pro131=) c.218C= (p.Pro73=) | |
| 10 | g.119670062C>G | CA378294998 | BAG3 | c.392C>G (p.Pro131Arg) c.218C>G (p.Pro73Arg) | |
| 10 | g.119670062C>T | CA5716312 | BAG3 | c.392C>T (p.Pro131Leu) c.218C>T (p.Pro73Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.119670063T>A | CA471634545 | BAG3 | c.393T>A (p.Pro131=) c.219T>A (p.Pro73=) | |
| 10 | g.119670063T>C | CA471634546 | BAG3 | c.393T>C (p.Pro131=) c.219T>C (p.Pro73=) | |
| 10 | g.119670063T>G | CA471634547 | BAG3 | c.393T>G (p.Pro131=) c.219T>G (p.Pro73=) | |
| 10 | g.119670064C>A | CA378294999 | BAG3 | c.394C>A (p.Gln132Lys) c.220C>A (p.Gln74Lys) | |
| 10 | g.119670064C>G | CA378295000 | BAG3 | c.394C>G (p.Gln132Glu) c.220C>G (p.Gln74Glu) | |
| 10 | g.119670064C>T | CA378295001 | BAG3 | c.394C>T (p.Gln132Ter) c.220C>T (p.Gln74Ter) | ClinVar |
| 10 | g.119670065A>C | CA378295002 | BAG3 | c.395A>C (p.Gln132Pro) c.221A>C (p.Gln74Pro) | |
| 10 | g.119670065A>G | CA378295003 | BAG3 | c.395A>G (p.Gln132Arg) c.221A>G (p.Gln74Arg) | |
| 10 | g.119670065A>T | CA378295004 | BAG3 | c.395A>T (p.Gln132Leu) c.221A>T (p.Gln74Leu) | |
| 10 | g.119670066G>A | CA471634548 | BAG3 | c.396G>A (p.Gln132=) c.222G>A (p.Gln74=) | |
| 10 | g.119670066G>C | CA378295005 | BAG3 | c.396G>C (p.Gln132His) c.222G>C (p.Gln74His) | |
| 10 | g.119670066G>T | CA378295006 | BAG3 | c.396G>T (p.Gln132His) c.222G>T (p.Gln74His) | |
| 10 | g.119670067A>C | CA471634549 | BAG3 | c.397A>C (p.Arg133=) c.223A>C (p.Arg75=) | |
| 10 | g.119670067A>G | CA378295007 | BAG3 | c.397A>G (p.Arg133Gly) c.223A>G (p.Arg75Gly) | |
| 10 | g.119670067A>T | CA378295008 | BAG3 | c.397A>T (p.Arg133Trp) c.223A>T (p.Arg75Trp) | |
| 10 | g.119670068G>A | CA378295011 | BAG3 | c.398G>A (p.Arg133Lys) c.224G>A (p.Arg75Lys) | gnomAD v4 |
| 10 | g.119670068G>C | CA378295010 | BAG3 | c.398G>C (p.Arg133Thr) c.224G>C (p.Arg75Thr) | |
| 10 | g.119670068G>T | CA378295009 | BAG3 | c.398G>T (p.Arg133Met) c.224G>T (p.Arg75Met) | |
| 10 | g.119670069G>A | CA471634550 | BAG3 | c.399G>A (p.Arg133=) c.225G>A (p.Arg75=) | ClinVar dbSNP |
| 10 | g.119670069G>C | CA378295012 | BAG3 | c.399G>C (p.Arg133Ser) c.225G>C (p.Arg75Ser) | |
| 10 | g.119670069G>T | CA378295013 | BAG3 | c.399G>T (p.Arg133Ser) c.225G>T (p.Arg75Ser) | |
| 10 | g.119670070T>A | CA175288 | BAG3 | c.400T>A (p.Ser134Thr) c.226T>A (p.Ser76Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.119670070T>C | CA378295014 | BAG3 | c.400T>C (p.Ser134Pro) c.226T>C (p.Ser76Pro) | |
| 10 | g.119670070T>G | CA378295015 | BAG3 | c.400T>G (p.Ser134Ala) c.226T>G (p.Ser76Ala) | |
| 10 | g.119670070T= | CA1940191169 | BAG3 | c.400T= (p.Ser134=) c.226T= (p.Ser76=) | |
| 10 | g.119670071C>A | CA378295016 | BAG3 | c.401C>A (p.Ser134Tyr) c.227C>A (p.Ser76Tyr) | |
| 10 | g.119670071C>G | CA378295017 | BAG3 | c.401C>G (p.Ser134Cys) c.227C>G (p.Ser76Cys) | gnomAD v4 |
| 10 | g.119670071C>T | CA378295018 | BAG3 | c.401C>T (p.Ser134Phe) c.227C>T (p.Ser76Phe) | |
| 10 | g.119670072C>A | CA471634553 | BAG3 | c.402C>A (p.Ser134=) c.228C>A (p.Ser76=) | |
| 10 | g.119670072C>G | CA471634552 | BAG3 | c.402C>G (p.Ser134=) c.228C>G (p.Ser76=) | |
| 10 | g.119670072C>T | CA471634551 | BAG3 | c.402C>T (p.Ser134=) c.228C>T (p.Ser76=) | |
| 10 | g.119670073C>A | CA378295019 | BAG3 | c.403C>A (p.Gln135Lys) c.229C>A (p.Gln77Lys) | |
| 10 | g.119670073C= | CA1940191173 | BAG3 | c.403C= (p.Gln135=) c.229C= (p.Gln77=) | |
| 10 | g.119670073C>G | CA378295020 | BAG3 | c.403C>G (p.Gln135Glu) c.229C>G (p.Gln77Glu) | |
| 10 | g.119670073C>T | CA378295021 | BAG3 | c.403C>T (p.Gln135Ter) c.229C>T (p.Gln77Ter) | ClinVar dbSNP |
| 10 | g.119670074A>C | CA378295023 | BAG3 | c.404A>C (p.Gln135Pro) c.230A>C (p.Gln77Pro) | |
| 10 | g.119670074A>G | CA378295024 | BAG3 | c.404A>G (p.Gln135Arg) c.230A>G (p.Gln77Arg) | |
| 10 | g.119670074A>T | CA378295022 | BAG3 | c.404A>T (p.Gln135Leu) c.230A>T (p.Gln77Leu) | |
| 10 | g.119670075G>A | CA5716313 | BAG3 | c.405G>A (p.Gln135=) c.231G>A (p.Gln77=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.119670075G>C | CA378295025 | BAG3 | c.405G>C (p.Gln135His) c.231G>C (p.Gln77His) | dbSNP gnomAD v4 |
| 10 | g.119670075G= | CA1940191176 | BAG3 | c.405G= (p.Gln135=) c.231G= (p.Gln77=) | |
| 10 | g.119670075G>T | CA378295026 | BAG3 | c.405G>T (p.Gln135His) c.231G>T (p.Gln77His) | |
| 10 | g.119670076T>A | CA378295027 | BAG3 | c.406T>A (p.Ser136Thr) c.232T>A (p.Ser78Thr) | |
| 10 | g.119670076T>C | CA378295028 | BAG3 | c.406T>C (p.Ser136Pro) c.232T>C (p.Ser78Pro) | |
| 10 | g.119670076T>G | CA378295029 | BAG3 | c.406T>G (p.Ser136Ala) c.232T>G (p.Ser78Ala) | |
| 10 | g.119670077C>A | CA378295030 | BAG3 | c.407C>A (p.Ser136Ter) c.233C>A (p.Ser78Ter) | |
| 10 | g.119670077C>G | CA378295031 | BAG3 | c.407C>G (p.Ser136Ter) c.233C>G (p.Ser78Ter) | |
| 10 | g.119670077C>T | CA378295032 | BAG3 | c.407C>T (p.Ser136Leu) c.233C>T (p.Ser78Leu) | gnomAD v4 |
| 10 | g.119670078A>C | CA471634554 | BAG3 | c.408A>C (p.Ser136=) c.234A>C (p.Ser78=) | |
| 10 | g.119670078A>G | CA471634555 | BAG3 | c.408A>G (p.Ser136=) c.234A>G (p.Ser78=) | |
| 10 | g.119670078A>T | CA471634556 | BAG3 | c.408A>T (p.Ser136=) c.234A>T (p.Ser78=) | |
| 10 | g.119670078_119670084del | CA1139532240 | BAG3 | c.408_414del (p.Pro137GlyfsTer?) c.234_240del (p.Pro79GlyfsTer?) | dbSNP |
| 10 | g.119670079C>A | CA378295033 | BAG3 | c.409C>A (p.Pro137Thr) c.235C>A (p.Pro79Thr) | |
| 10 | g.119670079C>G | CA378295034 | BAG3 | c.409C>G (p.Pro137Ala) c.235C>G (p.Pro79Ala) | |
| 10 | g.119670079C>T | CA378295035 | BAG3 | c.409C>T (p.Pro137Ser) c.235C>T (p.Pro79Ser) | |
| 10 | g.119670080C>A | CA378295037 | BAG3 | c.410C>A (p.Pro137His) c.236C>A (p.Pro79His) | |
| 10 | g.119670080C= | CA1940191179 | BAG3 | c.410C= (p.Pro137=) c.236C= (p.Pro79=) | |
| 10 | g.119670080C>G | CA308222 | BAG3 | c.410C>G (p.Pro137Arg) c.236C>G (p.Pro79Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.119670080C>T | CA378295036 | BAG3 | c.410C>T (p.Pro137Leu) c.236C>T (p.Pro79Leu) | dbSNP |
| 10 | g.119670082_119670083del | CA645568588 | BAG3 | c.412_413del (p.Leu138AlafsTer11) c.238_239del (p.Leu80AlafsTer11) | COSMIC |
| 10 | g.119670081T>A | CA471634557 | BAG3 | c.411T>A (p.Pro137=) c.237T>A (p.Pro79=) | |
| 10 | g.119670081T>C | CA471634558 | BAG3 | c.411T>C (p.Pro137=) c.237T>C (p.Pro79=) | |
| 10 | g.119670081T>G | CA471634559 | BAG3 | c.411T>G (p.Pro137=) c.237T>G (p.Pro79=) | |
| 10 | g.119670082C>A | CA378295038 | BAG3 | c.412C>A (p.Leu138Met) c.238C>A (p.Leu80Met) | |
| 10 | g.119670082C>G | CA378295039 | BAG3 | c.412C>G (p.Leu138Val) c.238C>G (p.Leu80Val) | |
| 10 | g.119670082C>T | CA471634560 | BAG3 | c.412C>T (p.Leu138=) c.238C>T (p.Leu80=) | |
| 10 | g.119670083T>A | CA378295040 | BAG3 | c.413T>A (p.Leu138Gln) c.239T>A (p.Leu80Gln) | gnomAD v4 |
| 10 | g.119670083T>C | CA378295041 | BAG3 | c.413T>C (p.Leu138Pro) c.239T>C (p.Leu80Pro) | |
| 10 | g.119670083T>G | CA378295042 | BAG3 | c.413T>G (p.Leu138Arg) c.239T>G (p.Leu80Arg) | |
| 10 | g.119670084G>A | CA471634561 | BAG3 | c.414G>A (p.Leu138=) c.240G>A (p.Leu80=) | |
| 10 | g.119670084G>C | CA471634562 | BAG3 | c.414G>C (p.Leu138=) c.240G>C (p.Leu80=) | |
| 10 | g.119670084G>T | CA471634563 | BAG3 | c.414G>T (p.Leu138=) c.240G>T (p.Leu80=) | |
| 10 | g.119670085C>A | CA471634564 | BAG3 | c.415C>A (p.Arg139=) c.241C>A (p.Arg81=) | |
| 10 | g.119670085C= | CA1940191184 | BAG3 | c.415C= (p.Arg139=) c.241C= (p.Arg81=) | |
| 10 | g.119670085C>G | CA378295043 | BAG3 | c.415C>G (p.Arg139Gly) c.241C>G (p.Arg81Gly) | |
| 10 | g.119670085C>T | CA5716314 | BAG3 | c.415C>T (p.Arg139Trp) c.241C>T (p.Arg81Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 10 | g.119670086G>A | CA5716315 | BAG3 | c.416G>A (p.Arg139Gln) c.242G>A (p.Arg81Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.119670086G>C | CA378295044 | BAG3 | c.416G>C (p.Arg139Pro) c.242G>C (p.Arg81Pro) | |
| 10 | g.119670086G= | CA1940191188 | BAG3 | c.416G= (p.Arg139=) c.242G= (p.Arg81=) | |
| 10 | g.119670086G>T | CA378295045 | BAG3 | c.416G>T (p.Arg139Leu) c.242G>T (p.Arg81Leu) | |
| 10 | g.119670087G>A | CA471634565 | BAG3 | c.417G>A (p.Arg139=) c.243G>A (p.Arg81=) | |
| 10 | g.119670087G>C | CA471634566 | BAG3 | c.417G>C (p.Arg139=) c.243G>C (p.Arg81=) | |
| 10 | g.119670087G>T | CA471634567 | BAG3 | c.417G>T (p.Arg139=) c.243G>T (p.Arg81=) | |
| 10 | g.119670088G>A | CA5716316 | BAG3 | c.418G>A (p.Gly140Ser) c.244G>A (p.Gly82Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.119670088G>C | CA378295046 | BAG3 | c.418G>C (p.Gly140Arg) c.244G>C (p.Gly82Arg) | |
| 10 | g.119670088G= | CA1940191194 | BAG3 | c.418G= (p.Gly140=) c.244G= (p.Gly82=) | |
| 10 | g.119670088G>T | CA378295047 | BAG3 | c.418G>T (p.Gly140Cys) c.244G>T (p.Gly82Cys) | dbSNP |
| 10 | g.119670089G>A | CA5716317 | BAG3 | c.419G>A (p.Gly140Asp) c.245G>A (p.Gly82Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.119670089G>C | CA378295049 | BAG3 | c.419G>C (p.Gly140Ala) c.245G>C (p.Gly82Ala) | dbSNP |
| 10 | g.119670089G= | CA1940191196 | BAG3 | c.419G= (p.Gly140=) c.245G= (p.Gly82=) | |
| 10 | g.119670089G>T | CA378295048 | BAG3 | c.419G>T (p.Gly140Val) c.245G>T (p.Gly82Val) | gnomAD v4 |
| 10 | g.119670090C>A | CA471634568 | BAG3 | c.420C>A (p.Gly140=) c.246C>A (p.Gly82=) | |
| 10 | g.119670090C= | CA1940191200 | BAG3 | c.420C= (p.Gly140=) c.246C= (p.Gly82=) | |
| 10 | g.119670090C>G | CA471634570 | BAG3 | c.420C>G (p.Gly140=) c.246C>G (p.Gly82=) | |
| 10 | g.119670090C>T | CA471634569 | BAG3 | c.420C>T (p.Gly140=) c.246C>T (p.Gly82=) | ClinVar dbSNP gnomAD v4 |
| 10 | g.119670091A= | CA1940191203 | BAG3 | c.421A= (p.Met141=) c.247A= (p.Met83=) | |
| 10 | g.119670091A>C | CA378295050 | BAG3 | c.421A>C (p.Met141Leu) c.247A>C (p.Met83Leu) | |
| 10 | g.119670091A>G | CA378295052 | BAG3 | c.421A>G (p.Met141Val) c.247A>G (p.Met83Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.119670091A>T | CA378295051 | BAG3 | c.421A>T (p.Met141Leu) c.247A>T (p.Met83Leu) | |
| 10 | g.119670092T>A | CA378295053 | BAG3 | c.422T>A (p.Met141Lys) c.248T>A (p.Met83Lys) | |
| 10 | g.119670092T>C | CA378295055 | BAG3 | c.422T>C (p.Met141Thr) c.248T>C (p.Met83Thr) | |
| 10 | g.119670092T>G | CA378295054 | BAG3 | c.422T>G (p.Met141Arg) c.248T>G (p.Met83Arg) | |
| 10 | g.119670093G>A | CA378295056 | BAG3 | c.423G>A (p.Met141Ile) c.249G>A (p.Met83Ile) | |
| 10 | g.119670093G>C | CA378295057 | BAG3 | c.423G>C (p.Met141Ile) c.249G>C (p.Met83Ile) | |
| 10 | g.119670093G>T | CA378295058 | BAG3 | c.423G>T (p.Met141Ile) c.249G>T (p.Met83Ile) | COSMIC |
| 10 | g.119670094C>A | CA378295059 | BAG3 | c.424C>A (p.Pro142Thr) c.250C>A (p.Pro84Thr) | |
| 10 | g.119670094C= | CA1940191205 | BAG3 | c.424C= (p.Pro142=) c.250C= (p.Pro84=) | |
| 10 | g.119670094C>G | CA378295060 | BAG3 | c.424C>G (p.Pro142Ala) c.250C>G (p.Pro84Ala) | |
| 10 | g.119670094C>T | CA378295061 | BAG3 | c.424C>T (p.Pro142Ser) c.250C>T (p.Pro84Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.119670095C>A | CA378295062 | BAG3 | c.425C>A (p.Pro142Gln) c.251C>A (p.Pro84Gln) | |
| 10 | g.119670095C>G | CA378295063 | BAG3 | c.425C>G (p.Pro142Arg) c.251C>G (p.Pro84Arg) | |
| 10 | g.119670095C>T | CA378295064 | BAG3 | c.425C>T (p.Pro142Leu) c.251C>T (p.Pro84Leu) | ClinVar |
| 10 | g.119670096A>C | CA471634571 | BAG3 | c.426A>C (p.Pro142=) c.252A>C (p.Pro84=) | |
| 10 | g.119670096A>G | CA471634572 | BAG3 | c.426A>G (p.Pro142=) c.252A>G (p.Pro84=) | |
| 10 | g.119670096A>T | CA471634573 | BAG3 | c.426A>T (p.Pro142=) c.252A>T (p.Pro84=) | |
| 10 | g.119670097G>A | CA5716318 | BAG3 | c.427G>A (p.Glu143Lys) c.253G>A (p.Glu85Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.119670097G>C | CA378295065 | BAG3 | c.427G>C (p.Glu143Gln) c.253G>C (p.Glu85Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.119670097G= | CA1940191209 | BAG3 | c.427G= (p.Glu143=) c.253G= (p.Glu85=) | |
| 10 | g.119670097G>T | CA378295066 | BAG3 | c.427G>T (p.Glu143Ter) c.253G>T (p.Glu85Ter) | dbSNP |
| 10 | g.119670098A>C | CA378295067 | BAG3 | c.428A>C (p.Glu143Ala) c.254A>C (p.Glu85Ala) | |
| 10 | g.119670098A>G | CA378295069 | BAG3 | c.428A>G (p.Glu143Gly) c.254A>G (p.Glu85Gly) | |
| 10 | g.119670098A>T | CA378295068 | BAG3 | c.428A>T (p.Glu143Val) c.254A>T (p.Glu85Val) | COSMIC |
| 10 | g.119670099A>C | CA378295070 | BAG3 | c.429A>C (p.Glu143Asp) c.255A>C (p.Glu85Asp) | |
| 10 | g.119670099A>G | CA471634574 | BAG3 | c.429A>G (p.Glu143=) c.255A>G (p.Glu85=) | |
| 10 | g.119670099A>T | CA378295071 | BAG3 | c.429A>T (p.Glu143Asp) c.255A>T (p.Glu85Asp) | |
| 10 | g.119670100A= | CA1940191211 | BAG3 | c.430A= (p.Thr144=) c.256A= (p.Thr86=) | |
| 10 | g.119670100A>C | CA378295072 | BAG3 | c.430A>C (p.Thr144Pro) c.256A>C (p.Thr86Pro) | |
| 10 | g.119670100A>G | CA214220089 | BAG3 | c.430A>G (p.Thr144Ala) c.256A>G (p.Thr86Ala) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.119670100A>T | CA378295073 | BAG3 | c.430A>T (p.Thr144Ser) c.256A>T (p.Thr86Ser) | |
| 10 | g.119670101_119670115dup | CA2573145585 | BAG3 | c.431_445dup (p.Asp148_Lys149insThrThrGlnProAsp) c.257_271dup (p.Asp90_Lys91insThrThrGlnProAsp) | ClinVar dbSNP |
| 10 | g.119670101C>A | CA378295074 | BAG3 | c.431C>A (p.Thr144Asn) c.257C>A (p.Thr86Asn) | |
| 10 | g.119670101C>G | CA378295075 | BAG3 | c.431C>G (p.Thr144Ser) c.257C>G (p.Thr86Ser) | |
| 10 | g.119670101C>T | CA378295076 | BAG3 | c.431C>T (p.Thr144Ile) c.257C>T (p.Thr86Ile) | |
| 10 | g.119670102C>A | CA5716319 | BAG3 | c.432C>A (p.Thr144=) c.258C>A (p.Thr86=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.119670102C= | CA1940191213 | BAG3 | c.432C= (p.Thr144=) c.258C= (p.Thr86=) | |
| 10 | g.119670102C>G | CA471634575 | BAG3 | c.432C>G (p.Thr144=) c.258C>G (p.Thr86=) | gnomAD v4 |
| 10 | g.119670102C>T | CA471634576 | BAG3 | c.432C>T (p.Thr144=) c.258C>T (p.Thr86=) | |
| 10 | g.119670104_119670107del | CA2580082416 | BAG3 | c.434_437del (p.Thr145SerfsTer?) c.260_263del (p.Thr87SerfsTer?) | ClinVar |
| 10 | g.119670103A>C | CA378295078 | BAG3 | c.433A>C (p.Thr145Pro) c.259A>C (p.Thr87Pro) | |
| 10 | g.119670103A>G | CA378295079 | BAG3 | c.433A>G (p.Thr145Ala) c.259A>G (p.Thr87Ala) | |
| 10 | g.119670103A>T | CA378295077 | BAG3 | c.433A>T (p.Thr145Ser) c.259A>T (p.Thr87Ser) | |
| 10 | g.119670104C>A | CA378295080 | BAG3 | c.434C>A (p.Thr145Asn) c.260C>A (p.Thr87Asn) | |
| 10 | g.119670104C>G | CA378295081 | BAG3 | c.434C>G (p.Thr145Ser) c.260C>G (p.Thr87Ser) | |
| 10 | g.119670104C>T | CA378295082 | BAG3 | c.434C>T (p.Thr145Ile) c.260C>T (p.Thr87Ile) | gnomAD v4 COSMIC |
| 10 | g.119670105T>A | CA471634577 | BAG3 | c.435T>A (p.Thr145=) c.261T>A (p.Thr87=) | |
| 10 | g.119670105T>C | CA471634578 | BAG3 | c.435T>C (p.Thr145=) c.261T>C (p.Thr87=) | |
| 10 | g.119670105T>G | CA471634579 | BAG3 | c.435T>G (p.Thr145=) c.261T>G (p.Thr87=) | |
| 10 | g.119670106C>A | CA378295083 | BAG3 | c.436C>A (p.Gln146Lys) c.262C>A (p.Gln88Lys) | |
| 10 | g.119670106C>G | CA378295084 | BAG3 | c.436C>G (p.Gln146Glu) c.262C>G (p.Gln88Glu) | |
| 10 | g.119670106C>T | CA378295085 | BAG3 | c.436C>T (p.Gln146Ter) c.262C>T (p.Gln88Ter) | gnomAD v4 COSMIC |
| 10 | g.119670107A>C | CA378295088 | BAG3 | c.437A>C (p.Gln146Pro) c.263A>C (p.Gln88Pro) | |
| 10 | g.119670107A>G | CA378295086 | BAG3 | c.437A>G (p.Gln146Arg) c.263A>G (p.Gln88Arg) | |
| 10 | g.119670107A>T | CA378295087 | BAG3 | c.437A>T (p.Gln146Leu) c.263A>T (p.Gln88Leu) | |
| 10 | g.119670108G>A | CA471634580 | BAG3 | c.438G>A (p.Gln146=) c.264G>A (p.Gln88=) | gnomAD v4 |
| 10 | g.119670108G>C | CA378295089 | BAG3 | c.438G>C (p.Gln146His) c.264G>C (p.Gln88His) | gnomAD v4 |
| 10 | g.119670108G>T | CA378295090 | BAG3 | c.438G>T (p.Gln146His) c.264G>T (p.Gln88His) | gnomAD v4 |
| 10 | g.119670109C>A | CA378295091 | BAG3 | c.439C>A (p.Pro147Thr) c.265C>A (p.Pro89Thr) | |
| 10 | g.119670109C>G | CA378295092 | BAG3 | c.439C>G (p.Pro147Ala) c.265C>G (p.Pro89Ala) | |
| 10 | g.119670109C>T | CA378295093 | BAG3 | c.439C>T (p.Pro147Ser) c.265C>T (p.Pro89Ser) | |
| 10 | g.119670110C>A | CA378295094 | BAG3 | c.440C>A (p.Pro147Gln) c.266C>A (p.Pro89Gln) | |
| 10 | g.119670110C= | CA1940191217 | BAG3 | c.440C= (p.Pro147=) c.266C= (p.Pro89=) | |
| 10 | g.119670110C>G | CA378295096 | BAG3 | c.440C>G (p.Pro147Arg) c.266C>G (p.Pro89Arg) | |
| 10 | g.119670110C>T | CA378295095 | BAG3 | c.440C>T (p.Pro147Leu) c.266C>T (p.Pro89Leu) | ClinVar dbSNP |
| 10 | g.119670111A= | CA1940191220 | BAG3 | c.441A= (p.Pro147=) c.267A= (p.Pro89=) | |
| 10 | g.119670111A>C | CA471634582 | BAG3 | c.441A>C (p.Pro147=) c.267A>C (p.Pro89=) | |
| 10 | g.119670111A>G | CA471634583 | BAG3 | c.441A>G (p.Pro147=) c.267A>G (p.Pro89=) | dbSNP |
| 10 | g.119670111A>T | CA471634581 | BAG3 | c.441A>T (p.Pro147=) c.267A>T (p.Pro89=) | |
| 10 | g.119670112G>A | CA378295097 | BAG3 | c.442G>A (p.Asp148Asn) c.268G>A (p.Asp90Asn) | |
| 10 | g.119670112G>C | CA378295098 | BAG3 | c.442G>C (p.Asp148His) c.268G>C (p.Asp90His) | |
| 10 | g.119670112G>T | CA378295099 | BAG3 | c.442G>T (p.Asp148Tyr) c.268G>T (p.Asp90Tyr) | |
| 10 | g.119670113A>C | CA378295100 | BAG3 | c.443A>C (p.Asp148Ala) c.269A>C (p.Asp90Ala) | |
| 10 | g.119670113A>G | CA378295101 | BAG3 | c.443A>G (p.Asp148Gly) c.269A>G (p.Asp90Gly) | |
| 10 | g.119670113A>T | CA378295102 | BAG3 | c.443A>T (p.Asp148Val) c.269A>T (p.Asp90Val) | |
| 10 | g.119670114T>A | CA378295103 | BAG3 | c.444T>A (p.Asp148Glu) c.270T>A (p.Asp90Glu) | |
| 10 | g.119670114T>C | CA471634584 | BAG3 | c.444T>C (p.Asp148=) c.270T>C (p.Asp90=) | |
| 10 | g.119670114T>G | CA378295104 | BAG3 | c.444T>G (p.Asp148Glu) c.270T>G (p.Asp90Glu) | |
| 10 | g.119670115A>C | CA378295105 | BAG3 | c.445A>C (p.Lys149Gln) c.271A>C (p.Lys91Gln) | |
| 10 | g.119670115A>G | CA378295106 | BAG3 | c.445A>G (p.Lys149Glu) c.271A>G (p.Lys91Glu) | ClinVar dbSNP |
| 10 | g.119670115A>T | CA378295107 | BAG3 | c.445A>T (p.Lys149Ter) c.271A>T (p.Lys91Ter) | |
| 10 | g.119670117dup | CA2580082417 | BAG3 | c.447dup (p.Gln150ThrfsTer20) c.273dup (p.Gln92ThrfsTer20) | ClinVar |
| 10 | g.119670116A>C | CA378295110 | BAG3 | c.446A>C (p.Lys149Thr) c.272A>C (p.Lys91Thr) | |
| 10 | g.119670116A>G | CA378295109 | BAG3 | c.446A>G (p.Lys149Arg) c.272A>G (p.Lys91Arg) | |
| 10 | g.119670116A>T | CA378295108 | BAG3 | c.446A>T (p.Lys149Ile) c.272A>T (p.Lys91Ile) | |
| 10 | g.119670117A>C | CA378295111 | BAG3 | c.447A>C (p.Lys149Asn) c.273A>C (p.Lys91Asn) | |
| 10 | g.119670117A>G | CA471634585 | BAG3 | c.447A>G (p.Lys149=) c.273A>G (p.Lys91=) | |
| 10 | g.119670117A>T | CA378295112 | BAG3 | c.447A>T (p.Lys149Asn) c.273A>T (p.Lys91Asn) | |
| 10 | g.119670118_119670119del | CA2580082418 | BAG3 | c.448_449del (p.Gln150ValfsTer19) c.274_275del (p.Gln92ValfsTer19) | ClinVar |
| 10 | g.119670118C>A | CA378295113 | BAG3 | c.448C>A (p.Gln150Lys) c.274C>A (p.Gln92Lys) | |
| 10 | g.119670118C>G | CA378295114 | BAG3 | c.448C>G (p.Gln150Glu) c.274C>G (p.Gln92Glu) | |
| 10 | g.119670118C>T | CA378295115 | BAG3 | c.448C>T (p.Gln150Ter) c.274C>T (p.Gln92Ter) | ClinVar |
| 10 | g.119670119A>C | CA378295116 | BAG3 | c.449A>C (p.Gln150Pro) c.275A>C (p.Gln92Pro) | gnomAD v4 |
| 10 | g.119670119A>G | CA378295117 | BAG3 | c.449A>G (p.Gln150Arg) c.275A>G (p.Gln92Arg) | gnomAD v4 |
| 10 | g.119670119A>T | CA378295118 | BAG3 | c.449A>T (p.Gln150Leu) c.275A>T (p.Gln92Leu) | |
| 10 | g.119670119_119670120del | CA2573053243 | BAG3 | c.449_450del (p.Gln150LeufsTer19) c.275_276del (p.Gln92LeufsTer19) | dbSNP |
| 10 | g.119670120G>A | CA471634586 | BAG3 | c.450G>A (p.Gln150=) c.276G>A (p.Gln92=) | dbSNP |
| 10 | g.119670120G>C | CA378295119 | BAG3 | c.450G>C (p.Gln150His) c.276G>C (p.Gln92His) | |
| 10 | g.119670120G= | CA1940191222 | BAG3 | c.450G= (p.Gln150=) c.276G= (p.Gln92=) | |
| 10 | g.119670120G>T | CA378295120 | BAG3 | c.450G>T (p.Gln150His) c.276G>T (p.Gln92His) | |
| 10 | g.119670121T>A | CA378295121 | BAG3 | c.451T>A (p.Cys151Ser) c.277T>A (p.Cys93Ser) | |
| 10 | g.119670121T>C | CA282467 | BAG3 | c.451T>C (p.Cys151Arg) c.277T>C (p.Cys93Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.119670121T>G | CA378295122 | BAG3 | c.451T>G (p.Cys151Gly) c.277T>G (p.Cys93Gly) | gnomAD v4 |
| 10 | g.119670121T= | CA1630848510 | BAG3 | c.451T= (p.Cys151=) c.277T= (p.Cys93=) | |
| 10 | g.119670121_119670122delinsCA | CA915948732 | BAG3 | c.451_452delinsCA (p.Cys151His) c.277_278delinsCA (p.Cys93His) | ClinVar |
| 10 | g.119670122G>A | CA5716320 | BAG3 | c.452G>A (p.Cys151Tyr) c.278G>A (p.Cys93Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.119670122G>C | CA378295123 | BAG3 | c.452G>C (p.Cys151Ser) c.278G>C (p.Cys93Ser) | |
| 10 | g.119670122G= | CA1940191228 | BAG3 | c.452G= (p.Cys151=) c.278G= (p.Cys93=) | |
| 10 | g.119670122G>T | CA378295124 | BAG3 | c.452G>T (p.Cys151Phe) c.278G>T (p.Cys93Phe) | |
| 10 | g.119670123T>A | CA378295125 | BAG3 | c.453T>A (p.Cys151Ter) c.279T>A (p.Cys93Ter) | |
| 10 | g.119670123T>C | CA471634587 | BAG3 | c.453T>C (p.Cys151=) c.279T>C (p.Cys93=) | gnomAD v4 |
| 10 | g.119670123T>G | CA378295126 | BAG3 | c.453T>G (p.Cys151Trp) c.279T>G (p.Cys93Trp) | |
| 10 | g.119670124G>A | CA378295127 | BAG3 | c.454G>A (p.Gly152Arg) c.280G>A (p.Gly94Arg) | |
| 10 | g.119670124G>C | CA378295128 | BAG3 | c.454G>C (p.Gly152Arg) c.280G>C (p.Gly94Arg) | |
| 10 | g.119670124G>T | CA378295129 | BAG3 | c.454G>T (p.Gly152Ter) c.280G>T (p.Gly94Ter) | |
| 10 | g.119670125G>A | CA378295130 | BAG3 | c.455G>A (p.Gly152Glu) c.281G>A (p.Gly94Glu) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.119670125G>C | CA378295131 | BAG3 | c.455G>C (p.Gly152Ala) c.281G>C (p.Gly94Ala) | |
| 10 | g.119670125G= | CA1940191231 | BAG3 | c.455G= (p.Gly152=) c.281G= (p.Gly94=) | |
| 10 | g.119670125G>T | CA378295132 | BAG3 | c.455G>T (p.Gly152Val) c.281G>T (p.Gly94Val) | gnomAD v4 |
| 10 | g.119670126A= | CA1940191235 | BAG3 | c.456A= (p.Gly152=) c.282A= (p.Gly94=) | |
| 10 | g.119670126A>C | CA471634588 | BAG3 | c.456A>C (p.Gly152=) c.282A>C (p.Gly94=) | |
| 10 | g.119670126A>G | CA214220098 | BAG3 | c.456A>G (p.Gly152=) c.282A>G (p.Gly94=) | ClinVar dbSNP gnomAD v4 |
| 10 | g.119670126A>T | CA471634589 | BAG3 | c.456A>T (p.Gly152=) c.282A>T (p.Gly94=) | |
| 10 | g.119670127C>A | CA378295133 | BAG3 | c.457C>A (p.Gln153Lys) c.283C>A (p.Gln95Lys) | |
| 10 | g.119670127C= | CA1940191237 | BAG3 | c.457C= (p.Gln153=) c.283C= (p.Gln95=) | |
| 10 | g.119670127C>G | CA378295134 | BAG3 | c.457C>G (p.Gln153Glu) c.283C>G (p.Gln95Glu) | |
| 10 | g.119670127C>T | CA378295135 | BAG3 | c.457C>T (p.Gln153Ter) c.283C>T (p.Gln95Ter) | ClinVar dbSNP gnomAD v2 |
| 10 | g.119670128A>C | CA378295136 | BAG3 | c.458A>C (p.Gln153Pro) c.284A>C (p.Gln95Pro) | |
| 10 | g.119670128A>G | CA378295137 | BAG3 | c.458A>G (p.Gln153Arg) c.284A>G (p.Gln95Arg) | ClinVar |
| 10 | g.119670128A>T | CA378295138 | BAG3 | c.458A>T (p.Gln153Leu) c.284A>T (p.Gln95Leu) | |
| 10 | g.119670129G>A | CA471634590 | BAG3 | c.459G>A (p.Gln153=) c.285G>A (p.Gln95=) | |
| 10 | g.119670129G>C | CA5716321 | BAG3 | c.459G>C (p.Gln153His) c.285G>C (p.Gln95His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.119670129G= | CA1940191243 | BAG3 | c.459G= (p.Gln153=) c.285G= (p.Gln95=) | |
| 10 | g.119670129G>T | CA378295139 | BAG3 | c.459G>T (p.Gln153His) c.285G>T (p.Gln95His) | |
| 10 | g.119670131_119670142del | CA2611159847 | BAG3 | c.461_472del (p.Val154_Ala157del) c.287_298del (p.Val96_Ala99del) | gnomAD v4 |
| 10 | g.119670130G>A | CA5716322 | BAG3 | c.460G>A (p.Val154Met) c.286G>A (p.Val96Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.119670130G>C | CA16605989 | BAG3 | c.460G>C (p.Val154Leu) c.286G>C (p.Val96Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.119670130G= | CA1940191247 | BAG3 | c.460G= (p.Val154=) c.286G= (p.Val96=) | |
| 10 | g.119670130G>T | CA378295140 | BAG3 | c.460G>T (p.Val154Leu) c.286G>T (p.Val96Leu) | |
| 10 | g.119670131T>A | CA378295141 | BAG3 | c.461T>A (p.Val154Glu) c.287T>A (p.Val96Glu) | gnomAD v4 |
| 10 | g.119670131T>C | CA378295142 | BAG3 | c.461T>C (p.Val154Ala) c.287T>C (p.Val96Ala) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.119670131T>G | CA378295143 | BAG3 | c.461T>G (p.Val154Gly) c.287T>G (p.Val96Gly) | gnomAD v4 |
| 10 | g.119670131T= | CA1940191250 | BAG3 | c.461T= (p.Val154=) c.287T= (p.Val96=) | |
| 10 | g.119670132G>A | CA471634593 | BAG3 | c.462G>A (p.Val154=) c.288G>A (p.Val96=) | |
| 10 | g.119670132G>C | CA471634591 | BAG3 | c.462G>C (p.Val154=) c.288G>C (p.Val96=) | |
| 10 | g.119670132G>T | CA471634592 | BAG3 | c.462G>T (p.Val154=) c.288G>T (p.Val96=) | |
| 10 | g.119670132_119670134dup | CA660663473 | BAG3 | c.462_464dup (p.Ala155_Ala156insAla) c.288_290dup (p.Ala97_Ala98insAla) | ClinVar dbSNP gnomAD v4 |
| 10 | g.119670133G>A | CA135022 | BAG3 | c.463G>A (p.Ala155Thr) c.289G>A (p.Ala97Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.119670133G>C | CA378295144 | BAG3 | c.463G>C (p.Ala155Pro) c.289G>C (p.Ala97Pro) | |
| 10 | g.119670133G= | CA1940191258 | BAG3 | c.463G= (p.Ala155=) c.289G= (p.Ala97=) | |
| 10 | g.119670133G>T | CA378295145 | BAG3 | c.463G>T (p.Ala155Ser) c.289G>T (p.Ala97Ser) | |
| 10 | g.119670135_119670137dup | CA2697558794 | BAG3 | c.465_467dup (p.Ala156_Ala157insAla) c.291_293dup (p.Ala98_Ala99insAla) | ClinVar |
| 10 | g.119670134C>A | CA378295146 | BAG3 | c.464C>A (p.Ala155Glu) c.290C>A (p.Ala97Glu) | gnomAD v4 |
| 10 | g.119670134C= | CA1940191264 | BAG3 | c.464C= (p.Ala155=) c.290C= (p.Ala97=) | |
| 10 | g.119670134C>G | CA378295147 | BAG3 | c.464C>G (p.Ala155Gly) c.290C>G (p.Ala97Gly) | |
| 10 | g.119670134C>T | CA378295148 | BAG3 | c.464C>T (p.Ala155Val) c.290C>T (p.Ala97Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.119670135A= | CA1940191267 | BAG3 | c.465A= (p.Ala155=) c.291A= (p.Ala97=) | |
| 10 | g.119670135A>C | CA471634594 | BAG3 | c.465A>C (p.Ala155=) c.291A>C (p.Ala97=) | |
| 10 | g.119670135A>G | CA5716323 | BAG3 | c.465A>G (p.Ala155=) c.291A>G (p.Ala97=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.119670135A>T | CA471634595 | BAG3 | c.465A>T (p.Ala155=) c.291A>T (p.Ala97=) | |
| 10 | g.119670136G>A | CA378295149 | BAG3 | c.466G>A (p.Ala156Thr) c.292G>A (p.Ala98Thr) | ClinVar |
| 10 | g.119670136G>C | CA378295151 | BAG3 | c.466G>C (p.Ala156Pro) c.292G>C (p.Ala98Pro) | |
| 10 | g.119670136G>T | CA378295150 | BAG3 | c.466G>T (p.Ala156Ser) c.292G>T (p.Ala98Ser) | |
| 10 | g.119670136_119670137insGCG | CA1139661704 | BAG3 | c.466_467insGCG (p.Ala155_Ala156insGly) c.292_293insGCG (p.Ala97_Ala98insGly) | |
| 10 | g.119670144_119670146dup | CA282470 | BAG3 | c.474_476dup (p.Ala159_Ala160insAla) c.300_302dup (p.Ala101_Ala102insAla) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.119670144_119670146del | CA912966568 | BAG3 | c.474_476del (p.Ala159del) c.300_302del (p.Ala101del) | ClinVar dbSNP gnomAD v4 |
| 10 | g.119670137C>A | CA378295152 | BAG3 | c.467C>A (p.Ala156Glu) c.293C>A (p.Ala98Glu) | ClinVar dbSNP gnomAD v4 |
| 10 | g.119670137C= | CA1940191276 | BAG3 | c.467C= (p.Ala156=) c.293C= (p.Ala98=) | |
| 10 | g.119670137C>G | CA184149 | BAG3 | c.467C>G (p.Ala156Gly) c.293C>G (p.Ala98Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.119670137C>T | CA5716324 | BAG3 | c.467C>T (p.Ala156Val) c.293C>T (p.Ala98Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.119670138G>A | CA5716325 | BAG3 | c.468G>A (p.Ala156=) c.294G>A (p.Ala98=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.119670138G>C | CA471634596 | BAG3 | c.468G>C (p.Ala156=) c.294G>C (p.Ala98=) | |
| 10 | g.119670138G= | CA1940191280 | BAG3 | c.468G= (p.Ala156=) c.294G= (p.Ala98=) | |
| 10 | g.119670138G>T | CA471634597 | BAG3 | c.468G>T (p.Ala156=) c.294G>T (p.Ala98=) | |
| 10 | g.119670139G>A | CA378295153 | BAG3 | c.469G>A (p.Ala157Thr) c.295G>A (p.Ala99Thr) | |
| 10 | g.119670139G>C | CA5716326 | BAG3 | c.469G>C (p.Ala157Pro) c.295G>C (p.Ala99Pro) | dbSNP ExAC gnomAD v2 |
| 10 | g.119670139G= | CA1940191283 | BAG3 | c.469G= (p.Ala157=) c.295G= (p.Ala99=) | |
| 10 | g.119670139G>T | CA378295154 | BAG3 | c.469G>T (p.Ala157Ser) c.295G>T (p.Ala99Ser) | |
| 10 | g.119670140C>A | CA378295155 | BAG3 | c.470C>A (p.Ala157Glu) c.296C>A (p.Ala99Glu) | |
| 10 | g.119670140C= | CA1940191286 | BAG3 | c.470C= (p.Ala157=) c.296C= (p.Ala99=) | |
| 10 | g.119670140C>G | CA378295156 | BAG3 | c.470C>G (p.Ala157Gly) c.296C>G (p.Ala99Gly) | |
| 10 | g.119670140C>T | CA5716327 | BAG3 | c.470C>T (p.Ala157Val) c.296C>T (p.Ala99Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.119670141G>A | CA175291 | BAG3 | c.471G>A (p.Ala157=) c.297G>A (p.Ala99=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.119670141G>C | CA471634598 | BAG3 | c.471G>C (p.Ala157=) c.297G>C (p.Ala99=) | |
| 10 | g.119670141G= | CA1940191290 | BAG3 | c.471G= (p.Ala157=) c.297G= (p.Ala99=) | |
| 10 | g.119670141G>T | CA471634599 | BAG3 | c.471G>T (p.Ala157=) c.297G>T (p.Ala99=) | |
| 10 | g.119670142G>A | CA378295159 | BAG3 | c.472G>A (p.Ala158Thr) c.298G>A (p.Ala100Thr) | |
| 10 | g.119670142G>C | CA378295157 | BAG3 | c.472G>C (p.Ala158Pro) c.298G>C (p.Ala100Pro) | |
| 10 | g.119670142G>T | CA378295158 | BAG3 | c.472G>T (p.Ala158Ser) c.298G>T (p.Ala100Ser) | |
| 10 | g.119670143C>A | CA378295160 | BAG3 | c.473C>A (p.Ala158Glu) c.299C>A (p.Ala100Glu) | |
| 10 | g.119670143C= | CA1940191298 | BAG3 | c.473C= (p.Ala158=) c.299C= (p.Ala100=) | |
| 10 | g.119670143C>G | CA378295161 | BAG3 | c.473C>G (p.Ala158Gly) c.299C>G (p.Ala100Gly) | |
| 10 | g.119670143C>T | CA5716328 | BAG3 | c.473C>T (p.Ala158Val) c.299C>T (p.Ala100Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.119670144G>A | CA214220178 | BAG3 | c.474G>A (p.Ala158=) c.300G>A (p.Ala100=) | ClinVar dbSNP gnomAD v4 |
| 10 | g.119670144G>C | CA471634600 | BAG3 | c.474G>C (p.Ala158=) c.300G>C (p.Ala100=) | |
| 10 | g.119670144G= | CA1940191303 | BAG3 | c.474G= (p.Ala158=) c.300G= (p.Ala100=) | |
| 10 | g.119670144G>T | CA471634601 | BAG3 | c.474G>T (p.Ala158=) c.300G>T (p.Ala100=) | |
| 10 | g.119670144_119670145dup | CA918774547 | BAG3 | c.474_475dup (p.Ala159GlyfsTer?) c.300_301dup (p.Ala101GlyfsTer?) | dbSNP |
| 10 | g.119670145G>A | CA378295163 | BAG3 | c.475G>A (p.Ala159Thr) c.301G>A (p.Ala101Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.119670145G>C | CA378295162 | BAG3 | c.475G>C (p.Ala159Pro) c.301G>C (p.Ala101Pro) | |
| 10 | g.119670145G= | CA1940191307 | BAG3 | c.475G= (p.Ala159=) c.301G= (p.Ala101=) | |
| 10 | g.119670145G>T | CA378295164 | BAG3 | c.475G>T (p.Ala159Ser) c.301G>T (p.Ala101Ser) | |
| 10 | g.119670145_119670146delinsGC | CA1940191306 | BAG3 | c.475_476delinsGC (p.Ala159=) c.301_302delinsGC (p.Ala101=) | |
| 10 | g.119670147_119670149dup | CA214220180 | BAG3 | c.477_479dup (p.Ala160_Gln161insAla) c.303_305dup (p.Ala102_Gln103insAla) | ClinVar dbSNP |
| 10 | g.119670146del | CA918774548 | BAG3 | c.476del (p.Ala159GlufsTer?) c.302del (p.Ala101GlufsTer?) | dbSNP |
| 10 | g.119670146C>A | CA378295165 | BAG3 | c.476C>A (p.Ala159Glu) c.302C>A (p.Ala101Glu) | |
| 10 | g.119670146C>G | CA378295167 | BAG3 | c.476C>G (p.Ala159Gly) c.302C>G (p.Ala101Gly) | |
| 10 | g.119670146C>T | CA378295166 | BAG3 | c.476C>T (p.Ala159Val) c.302C>T (p.Ala101Val) | |
| 10 | g.119670147A>C | CA471634602 | BAG3 | c.477A>C (p.Ala159=) c.303A>C (p.Ala101=) | dbSNP |
| 10 | g.119670147A>G | CA471634603 | BAG3 | c.477A>G (p.Ala159=) c.303A>G (p.Ala101=) | |
| 10 | g.119670147A>T | CA471634604 | BAG3 | c.477A>T (p.Ala159=) c.303A>T (p.Ala101=) | |
| 10 | g.119670148G>A | CA378295168 | BAG3 | c.478G>A (p.Ala160Thr) c.304G>A (p.Ala102Thr) | ClinVar |
| 10 | g.119670148G>C | CA378295170 | BAG3 | c.478G>C (p.Ala160Pro) c.304G>C (p.Ala102Pro) | |
| 10 | g.119670148G>T | CA378295169 | BAG3 | c.478G>T (p.Ala160Ser) c.304G>T (p.Ala102Ser) | gnomAD v4 |