Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.47350065_47350066delinsCA | CA1969341904 | MYBPC3 | c.453_454delinsTG (p.Asp151=) | |
11 | g.47350066del | CA015140 | MYBPC3 | c.453del (p.Asp151GlufsTer8) | ClinVar dbSNP |
11 | g.47350066A>C | CA380338733 | MYBPC3 | c.453T>G (p.Asp151Glu) | |
11 | g.47350066A>G | CA474221816 | MYBPC3 | c.453T>C (p.Asp151=) | gnomAD v4 |
11 | g.47350066A>T | CA380338737 | MYBPC3 | c.453T>A (p.Asp151Glu) | |
11 | g.47350067T>A | CA380338748 | MYBPC3 | c.452A>T (p.Asp151Val) | |
11 | g.47350067T>C | CA380338744 | MYBPC3 | c.452A>G (p.Asp151Gly) | |
11 | g.47350067T>G | CA380338742 | MYBPC3 | c.452A>C (p.Asp151Ala) | |
11 | g.47350068del | CA2580084248 | MYBPC3 | c.451del (p.Asp151MetfsTer8) | ClinVar |
11 | g.47350068C>A | CA380338751 | MYBPC3 | c.451G>T (p.Asp151Tyr) | gnomAD v4 |
11 | g.47350068C= | CA1969341906 | MYBPC3 | c.451G= (p.Asp151=) | |
11 | g.47350068C>G | CA380338756 | MYBPC3 | c.451G>C (p.Asp151His) | |
11 | g.47350068C>T | CA015133 | MYBPC3 | c.451G>A (p.Asp151Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47350068_47350069delinsCG | CA1969341905 | MYBPC3 | c.450_451delinsCG (p.Pro150=) | |
11 | g.47350069G>A | CA015118 | MYBPC3 | c.450C>T (p.Pro150=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47350069G>C | CA055427 | MYBPC3 | c.450C>G (p.Pro150=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47350069G= | CA1969341907 | MYBPC3 | c.450C= (p.Pro150=) | |
11 | g.47350069G>T | CA474221824 | MYBPC3 | c.450C>A (p.Pro150=) | gnomAD v4 |
11 | g.47350071_47350073dup | CA2613397836 | MYBPC3 | c.448_450dup (p.Pro150_Asp151insPro) | gnomAD v4 |
11 | g.47350073del | CA015126 | MYBPC3 | c.450del (p.Asp151MetfsTer8) | ClinVar dbSNP gnomAD v4 |
11 | g.47350070G>A | CA380338764 | MYBPC3 | c.449C>T (p.Pro150Leu) | ClinVar dbSNP gnomAD v4 |
11 | g.47350070G>C | CA380338765 | MYBPC3 | c.449C>G (p.Pro150Arg) | |
11 | g.47350070G= | CA1969341908 | MYBPC3 | c.449C= (p.Pro150=) | |
11 | g.47350070G>T | CA380338766 | MYBPC3 | c.449C>A (p.Pro150His) | gnomAD v4 |
11 | g.47350071G>A | CA380338768 | MYBPC3 | c.448C>T (p.Pro150Ser) | gnomAD v4 |
11 | g.47350071G>C | CA380338773 | MYBPC3 | c.448C>G (p.Pro150Ala) | |
11 | g.47350071G>T | CA380338784 | MYBPC3 | c.448C>A (p.Pro150Thr) | |
11 | g.47350072G>A | CA474221827 | MYBPC3 | c.447C>T (p.Ala149=) | gnomAD v4 COSMIC COSMIC |
11 | g.47350072G>C | CA474221828 | MYBPC3 | c.447C>G (p.Ala149=) | |
11 | g.47350072G>T | CA474221829 | MYBPC3 | c.447C>A (p.Ala149=) | gnomAD v4 |
11 | g.47350073G>A | CA015109 | MYBPC3 | c.446C>T (p.Ala149Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47350073G>C | CA380338790 | MYBPC3 | c.446C>G (p.Ala149Gly) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.47350073G= | CA1969341909 | MYBPC3 | c.446C= (p.Ala149=) | |
11 | g.47350073G>T | CA055418 | MYBPC3 | c.446C>A (p.Ala149Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47350074C>A | CA380338794 | MYBPC3 | c.445G>T (p.Ala149Ser) | ClinVar dbSNP gnomAD v4 |
11 | g.47350074C= | CA1969341910 | MYBPC3 | c.445G= (p.Ala149=) | |
11 | g.47350074C>G | CA380338801 | MYBPC3 | c.445G>C (p.Ala149Pro) | |
11 | g.47350074C>T | CA380338804 | MYBPC3 | c.445G>A (p.Ala149Thr) | ClinVar gnomAD v4 |
11 | g.47350075T>A | CA474221833 | MYBPC3 | c.444A>T (p.Gly148=) | |
11 | g.47350075T>C | CA474221834 | MYBPC3 | c.444A>G (p.Gly148=) | |
11 | g.47350075T>G | CA474221835 | MYBPC3 | c.444A>C (p.Gly148=) | |
11 | g.47350075T= | CA1969341911 | MYBPC3 | c.444A= (p.Gly148=) | |
11 | g.47350076C>A | CA380338807 | MYBPC3 | c.443G>T (p.Gly148Val) | gnomAD v4 |
11 | g.47350076C>G | CA380338810 | MYBPC3 | c.443G>C (p.Gly148Ala) | |
11 | g.47350076C>T | CA380338814 | MYBPC3 | c.443G>A (p.Gly148Glu) | gnomAD v4 COSMIC COSMIC |
11 | g.47350077dup | CA676992653 | MYBPC3 | c.443dup (p.Ala149SerfsTer4) | dbSNP gnomAD v4 |
11 | g.47350077del | CA2613397863 | MYBPC3 | c.443del (p.Gly148GlufsTer11) | gnomAD v4 |
11 | g.47350076_47350078delinsCCA | CA1969341912 | MYBPC3 | c.441_443delinsTGG (p.Pro147=) | |
11 | g.47350077C>A | CA380338819 | MYBPC3 | c.442G>T (p.Gly148Ter) | gnomAD v4 |
11 | g.47350077C= | CA1969341913 | MYBPC3 | c.442G= (p.Gly148=) |