Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.7566389C>A | CA362674774 | DSP | c.952C>A (p.Gln318Lys) n.276C>A | |
6 | g.7566389C>G | CA362674775 | DSP | c.952C>G (p.Gln318Glu) n.276C>G | |
6 | g.7566389C>T | CA362674776 | DSP | c.952C>T (p.Gln318Ter) n.276C>T | |
6 | g.7566390A>C | CA362674778 | DSP | c.953A>C (p.Gln318Pro) n.277A>C | |
6 | g.7566390A>G | CA362674779 | DSP | c.953A>G (p.Gln318Arg) n.277A>G | |
6 | g.7566390A>T | CA362674777 | DSP | c.953A>T (p.Gln318Leu) n.277A>T | |
6 | g.7566391A= | CA1608618869 | DSP | c.954A= (p.Gln318=) n.278A= | |
6 | g.7566391A>C | CA362674780 | DSP | c.954A>C (p.Gln318His) n.278A>C | ClinVar dbSNP |
6 | g.7566391A>G | CA133955193 | DSP | c.954A>G (p.Gln318=) n.278A>G | dbSNP |
6 | g.7566391A>T | CA362674781 | DSP | c.954A>T (p.Gln318His) n.278A>T | |
6 | g.7566392C>A | CA362674782 | DSP | c.955C>A (p.Leu319Met) n.279C>A | |
6 | g.7566392C= | CA1608618874 | DSP | c.955C= (p.Leu319=) n.279C= | |
6 | g.7566392C>G | CA16611949 | DSP | c.955C>G (p.Leu319Val) n.279C>G | ClinVar dbSNP |
6 | g.7566392C>T | CA053356 | DSP | c.955C>T (p.Leu319=) n.279C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.7566393T>A | CA362674783 | DSP | c.956T>A (p.Leu319Gln) n.280T>A | |
6 | g.7566393T>C | CA362674784 | DSP | c.956T>C (p.Leu319Pro) n.280T>C | ClinVar |
6 | g.7566393T>G | CA362674785 | DSP | c.956T>G (p.Leu319Arg) n.280T>G | |
6 | g.7566394G>A | CA448519431 | DSP | c.957G>A (p.Leu319=) n.281G>A | gnomAD v4 |
6 | g.7566394G>C | CA448519433 | DSP | c.957G>C (p.Leu319=) n.281G>C | |
6 | g.7566394G>T | CA448519435 | DSP | c.957G>T (p.Leu319=) n.281G>T | |
6 | g.7566395G>A | CA362674786 | DSP | c.958G>A (p.Glu320Lys) n.282G>A | |
6 | g.7566395G>C | CA362674787 | DSP | c.958G>C (p.Glu320Gln) n.282G>C | |
6 | g.7566395G>T | CA362674788 | DSP | c.958G>T (p.Glu320Ter) n.282G>T | |
6 | g.7566396A>C | CA362674789 | DSP | c.959A>C (p.Glu320Ala) n.283A>C | |
6 | g.7566396A>G | CA362674790 | DSP | c.959A>G (p.Glu320Gly) n.283A>G | |
6 | g.7566396A>T | CA362674791 | DSP | c.959A>T (p.Glu320Val) n.283A>T | |
6 | g.7566397A>C | CA362674792 | DSP | c.960A>C (p.Glu320Asp) n.284A>C | |
6 | g.7566397A>G | CA448519445 | DSP | c.960A>G (p.Glu320=) n.284A>G | |
6 | g.7566397A>T | CA362674793 | DSP | c.960A>T (p.Glu320Asp) n.284A>T | |
6 | g.7566398G>A | CA362674794 | DSP | c.961G>A (p.Val321Ile) n.285G>A | |
6 | g.7566398G>C | CA053369 | DSP | c.961G>C (p.Val321Leu) n.285G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.7566398G= | CA1608618879 | DSP | c.961G= (p.Val321=) n.285G= | |
6 | g.7566398G>T | CA362674795 | DSP | c.961G>T (p.Val321Phe) n.285G>T | gnomAD v4 |
6 | g.7566399T>A | CA362674796 | DSP | c.962T>A (p.Val321Asp) n.286T>A | ClinVar |
6 | g.7566399T>C | CA362674797 | DSP | c.962T>C (p.Val321Ala) n.286T>C | |
6 | g.7566399T>G | CA362674798 | DSP | c.962T>G (p.Val321Gly) n.286T>G | |
6 | g.7566400T>A | CA448519458 | DSP | c.963T>A (p.Val321=) n.287T>A | |
6 | g.7566400T>C | CA448519462 | DSP | c.963T>C (p.Val321=) n.287T>C | |
6 | g.7566400T>G | CA448519456 | DSP | c.963T>G (p.Val321=) n.287T>G | |
6 | g.7566401A>C | CA362674799 | DSP | c.964A>C (p.Lys322Gln) n.288A>C | |
6 | g.7566401A>G | CA362674800 | DSP | c.964A>G (p.Lys322Glu) n.288A>G | |
6 | g.7566401A>T | CA362674801 | DSP | c.964A>T (p.Lys322Ter) n.288A>T | |
6 | g.7566406_7566411del | CA2580075357 | DSP | c.969_974del (p.Lys324_Glu325del) n.293_298del | ClinVar |
6 | g.7566402A= | CA1608618881 | DSP | c.965A= (p.Lys322=) n.289A= | |
6 | g.7566402A>C | CA362674802 | DSP | c.965A>C (p.Lys322Thr) n.289A>C | |
6 | g.7566402A>G | CA053377 | DSP | c.965A>G (p.Lys322Arg) n.289A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.7566402A>T | CA362674803 | DSP | c.965A>T (p.Lys322Ile) n.289A>T | |
6 | g.7566403A>C | CA362674804 | DSP | c.966A>C (p.Lys322Asn) n.290A>C | |
6 | g.7566403A>G | CA448519470 | DSP | c.966A>G (p.Lys322=) n.290A>G | |
6 | g.7566403A>T | CA362674805 | DSP | c.966A>T (p.Lys322Asn) n.290A>T |