Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.38562365C= | CA1358566664 | SCN5A | c.3960+50G= (n.3960+50G=) c.3963+50G= (n.3963+50G=) c.3801+50G= (n.3801+50G=) c.3834+50G= (n.3834+50G=) | |
3 | g.38562365C>T | CA72945712 | SCN5A | c.3960+50G>A (n.3960+50G>A) c.3963+50G>A (n.3963+50G>A) c.3801+50G>A (n.3801+50G>A) c.3834+50G>A (n.3834+50G>A) | dbSNP |
3 | g.38562366T>A | CA2665111694 | SCN5A | c.3960+49A>T (n.3960+49A>T) c.3963+49A>T (n.3963+49A>T) c.3801+49A>T (n.3801+49A>T) c.3834+49A>T (n.3834+49A>T) | gnomAD v4 |
3 | g.38562366T>C | CA2665111695 | SCN5A | c.3960+49A>G (n.3960+49A>G) c.3963+49A>G (n.3963+49A>G) c.3801+49A>G (n.3801+49A>G) c.3834+49A>G (n.3834+49A>G) | dbSNP gnomAD v4 |
3 | g.38562366T>G | CA2665111696 | SCN5A | c.3960+49A>C (n.3960+49A>C) c.3963+49A>C (n.3963+49A>C) c.3801+49A>C (n.3801+49A>C) c.3834+49A>C (n.3834+49A>C) | gnomAD v4 |
3 | g.38562367G>A | CA542270472 | SCN5A | c.3960+48C>T (n.3960+48C>T) c.3963+48C>T (n.3963+48C>T) c.3801+48C>T (n.3801+48C>T) c.3834+48C>T (n.3834+48C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38562367G= | CA1358566665 | SCN5A | c.3960+48C= (n.3960+48C=) c.3963+48C= (n.3963+48C=) c.3801+48C= (n.3801+48C=) c.3834+48C= (n.3834+48C=) | |
3 | g.38562367G>T | CA2665111697 | SCN5A | c.3960+48C>A (n.3960+48C>A) c.3963+48C>A (n.3963+48C>A) c.3801+48C>A (n.3801+48C>A) c.3834+48C>A (n.3834+48C>A) | gnomAD v4 |
3 | g.38562368T>C | CA2665111698 | SCN5A | c.3960+47A>G (n.3960+47A>G) c.3963+47A>G (n.3963+47A>G) c.3801+47A>G (n.3801+47A>G) c.3834+47A>G (n.3834+47A>G) | gnomAD v4 |
3 | g.38562369G>A | CA2755899183 | SCN5A | c.3960+46C>T (n.3960+46C>T) c.3963+46C>T (n.3963+46C>T) c.3801+46C>T (n.3801+46C>T) c.3834+46C>T (n.3834+46C>T) | |
3 | g.38562369G>C | CA1358566667 | SCN5A | c.3960+46C>G (n.3960+46C>G) c.3963+46C>G (n.3963+46C>G) c.3801+46C>G (n.3801+46C>G) c.3834+46C>G (n.3834+46C>G) | dbSNP |
3 | g.38562369G= | CA1358566666 | SCN5A | c.3960+46C= (n.3960+46C=) c.3963+46C= (n.3963+46C=) c.3801+46C= (n.3801+46C=) c.3834+46C= (n.3834+46C=) | |
3 | g.38562369G>T | CA2665111699 | SCN5A | c.3960+46C>A (n.3960+46C>A) c.3963+46C>A (n.3963+46C>A) c.3801+46C>A (n.3801+46C>A) c.3834+46C>A (n.3834+46C>A) | gnomAD v4 |
3 | g.38562370G>A | CA542270473 | SCN5A | c.3960+45C>T (n.3960+45C>T) c.3963+45C>T (n.3963+45C>T) c.3801+45C>T (n.3801+45C>T) c.3834+45C>T (n.3834+45C>T) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.38562370G= | CA1358566668 | SCN5A | c.3960+45C= (n.3960+45C=) c.3963+45C= (n.3963+45C=) c.3801+45C= (n.3801+45C=) c.3834+45C= (n.3834+45C=) | |
3 | g.38562370G>T | CA2665111700 | SCN5A | c.3960+45C>A (n.3960+45C>A) c.3963+45C>A (n.3963+45C>A) c.3801+45C>A (n.3801+45C>A) c.3834+45C>A (n.3834+45C>A) | gnomAD v4 |
3 | g.38562371G>T | CA2665111701 | SCN5A | c.3960+44C>A (n.3960+44C>A) c.3963+44C>A (n.3963+44C>A) c.3801+44C>A (n.3801+44C>A) c.3834+44C>A (n.3834+44C>A) | gnomAD v4 |
3 | g.38562372A>G | CA2665111702 | SCN5A | c.3960+43T>C (n.3960+43T>C) c.3963+43T>C (n.3963+43T>C) c.3801+43T>C (n.3801+43T>C) c.3834+43T>C (n.3834+43T>C) | gnomAD v4 |
3 | g.38562372A>T | CA2839180840 | SCN5A | c.3960+43T>A (n.3960+43T>A) c.3963+43T>A (n.3963+43T>A) c.3801+43T>A (n.3801+43T>A) c.3834+43T>A (n.3834+43T>A) | |
3 | g.38562373C>A | CA062657 | SCN5A | c.3960+42G>T (n.3960+42G>T) c.3963+42G>T (n.3963+42G>T) c.3801+42G>T (n.3801+42G>T) c.3834+42G>T (n.3834+42G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38562373C= | CA1358566669 | SCN5A | c.3960+42G= (n.3960+42G=) c.3963+42G= (n.3963+42G=) c.3801+42G= (n.3801+42G=) c.3834+42G= (n.3834+42G=) | |
3 | g.38562373C>T | CA062654 | SCN5A | c.3960+42G>A (n.3960+42G>A) c.3963+42G>A (n.3963+42G>A) c.3801+42G>A (n.3801+42G>A) c.3834+42G>A (n.3834+42G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.38562374C>A | CA2665111703 | SCN5A | c.3960+41G>T (n.3960+41G>T) c.3963+41G>T (n.3963+41G>T) c.3801+41G>T (n.3801+41G>T) c.3834+41G>T (n.3834+41G>T) | gnomAD v4 |
3 | g.38562374C= | CA1358566670 | SCN5A | c.3960+41G= (n.3960+41G=) c.3963+41G= (n.3963+41G=) c.3801+41G= (n.3801+41G=) c.3834+41G= (n.3834+41G=) | |
3 | g.38562374C>T | CA542270474 | SCN5A | c.3960+41G>A (n.3960+41G>A) c.3963+41G>A (n.3963+41G>A) c.3801+41G>A (n.3801+41G>A) c.3834+41G>A (n.3834+41G>A) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.38562375G>A | CA062649 | SCN5A | c.3960+40C>T (n.3960+40C>T) c.3963+40C>T (n.3963+40C>T) c.3801+40C>T (n.3801+40C>T) c.3834+40C>T (n.3834+40C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38562375G= | CA1358566671 | SCN5A | c.3960+40C= (n.3960+40C=) c.3963+40C= (n.3963+40C=) c.3801+40C= (n.3801+40C=) c.3834+40C= (n.3834+40C=) | |
3 | g.38562376C>A | CA542270475 | SCN5A | c.3960+39G>T (n.3960+39G>T) c.3963+39G>T (n.3963+39G>T) c.3801+39G>T (n.3801+39G>T) c.3834+39G>T (n.3834+39G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38562376C= | CA1358566672 | SCN5A | c.3960+39G= (n.3960+39G=) c.3963+39G= (n.3963+39G=) c.3801+39G= (n.3801+39G=) c.3834+39G= (n.3834+39G=) | |
3 | g.38562376C>T | CA062646 | SCN5A | c.3960+39G>A (n.3960+39G>A) c.3963+39G>A (n.3963+39G>A) c.3801+39G>A (n.3801+39G>A) c.3834+39G>A (n.3834+39G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38562379C>A | CA2665111704 | SCN5A | c.3960+36G>T (n.3960+36G>T) c.3963+36G>T (n.3963+36G>T) c.3801+36G>T (n.3801+36G>T) c.3834+36G>T (n.3834+36G>T) | gnomAD v4 |
3 | g.38562379C= | CA1358566673 | SCN5A | c.3960+36G= (n.3960+36G=) c.3963+36G= (n.3963+36G=) c.3801+36G= (n.3801+36G=) c.3834+36G= (n.3834+36G=) | |
3 | g.38562379C>T | CA062641 | SCN5A | c.3960+36G>A (n.3960+36G>A) c.3963+36G>A (n.3963+36G>A) c.3801+36G>A (n.3801+36G>A) c.3834+36G>A (n.3834+36G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.38562380C= | CA1358566674 | SCN5A | c.3960+35G= (n.3960+35G=) c.3963+35G= (n.3963+35G=) c.3801+35G= (n.3801+35G=) c.3834+35G= (n.3834+35G=) | |
3 | g.38562380C>T | CA72945732 | SCN5A | c.3960+35G>A (n.3960+35G>A) c.3963+35G>A (n.3963+35G>A) c.3801+35G>A (n.3801+35G>A) c.3834+35G>A (n.3834+35G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38562381C>A | CA2665111705 | SCN5A | c.3960+34G>T (n.3960+34G>T) c.3963+34G>T (n.3963+34G>T) c.3801+34G>T (n.3801+34G>T) c.3834+34G>T (n.3834+34G>T) | gnomAD v4 |
3 | g.38562381C= | CA1358566675 | SCN5A | c.3960+34G= (n.3960+34G=) c.3963+34G= (n.3963+34G=) c.3801+34G= (n.3801+34G=) c.3834+34G= (n.3834+34G=) | |
3 | g.38562381C>T | CA542270476 | SCN5A | c.3960+34G>A (n.3960+34G>A) c.3963+34G>A (n.3963+34G>A) c.3801+34G>A (n.3801+34G>A) c.3834+34G>A (n.3834+34G>A) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.38562383C>A | CA2665111706 | SCN5A | c.3960+32G>T (n.3960+32G>T) c.3963+32G>T (n.3963+32G>T) c.3801+32G>T (n.3801+32G>T) c.3834+32G>T (n.3834+32G>T) | gnomAD v4 |
3 | g.38562383C>T | CA2577553137 | SCN5A | c.3960+32G>A (n.3960+32G>A) c.3963+32G>A (n.3963+32G>A) c.3801+32G>A (n.3801+32G>A) c.3834+32G>A (n.3834+32G>A) | |
3 | g.38562384T>A | CA2665111707 | SCN5A | c.3960+31A>T (n.3960+31A>T) c.3963+31A>T (n.3963+31A>T) c.3801+31A>T (n.3801+31A>T) c.3834+31A>T (n.3834+31A>T) | gnomAD v4 |
3 | g.38562385C>A | CA542270477 | SCN5A | c.3960+30G>T (n.3960+30G>T) c.3963+30G>T (n.3963+30G>T) c.3801+30G>T (n.3801+30G>T) c.3834+30G>T (n.3834+30G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38562385C= | CA1358566676 | SCN5A | c.3960+30G= (n.3960+30G=) c.3963+30G= (n.3963+30G=) c.3801+30G= (n.3801+30G=) c.3834+30G= (n.3834+30G=) | |
3 | g.38562385C>G | CA542270478 | SCN5A | c.3960+30G>C (n.3960+30G>C) c.3963+30G>C (n.3963+30G>C) c.3801+30G>C (n.3801+30G>C) c.3834+30G>C (n.3834+30G>C) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.38562386C>A | CA2665111708 | SCN5A | c.3960+29G>T (n.3960+29G>T) c.3963+29G>T (n.3963+29G>T) c.3801+29G>T (n.3801+29G>T) c.3834+29G>T (n.3834+29G>T) | gnomAD v4 |
3 | g.38562386C= | CA1358566677 | SCN5A | c.3960+29G= (n.3960+29G=) c.3963+29G= (n.3963+29G=) c.3801+29G= (n.3801+29G=) c.3834+29G= (n.3834+29G=) | |
3 | g.38562386C>G | CA542270479 | SCN5A | c.3960+29G>C (n.3960+29G>C) c.3963+29G>C (n.3963+29G>C) c.3801+29G>C (n.3801+29G>C) c.3834+29G>C (n.3834+29G>C) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.38562387C>A | CA2665111709 | SCN5A | c.3960+28G>T (n.3960+28G>T) c.3963+28G>T (n.3963+28G>T) c.3801+28G>T (n.3801+28G>T) c.3834+28G>T (n.3834+28G>T) | gnomAD v4 |
3 | g.38562388T>C | CA1358566679 | SCN5A | c.3960+27A>G (n.3960+27A>G) c.3963+27A>G (n.3963+27A>G) c.3801+27A>G (n.3801+27A>G) c.3834+27A>G (n.3834+27A>G) | dbSNP |
3 | g.38562388T= | CA1358566678 | SCN5A | c.3960+27A= (n.3960+27A=) c.3963+27A= (n.3963+27A=) c.3801+27A= (n.3801+27A=) c.3834+27A= (n.3834+27A=) | |
3 | g.38562389G>A | CA2665111711 | SCN5A | c.3960+26C>T (n.3960+26C>T) c.3963+26C>T (n.3963+26C>T) c.3801+26C>T (n.3801+26C>T) c.3834+26C>T (n.3834+26C>T) | gnomAD v4 |
3 | g.38562389G>T | CA2665111710 | SCN5A | c.3960+26C>A (n.3960+26C>A) c.3963+26C>A (n.3963+26C>A) c.3801+26C>A (n.3801+26C>A) c.3834+26C>A (n.3834+26C>A) | gnomAD v4 |
3 | g.38562390G>C | CA2665111713 | SCN5A | c.3960+25C>G (n.3960+25C>G) c.3963+25C>G (n.3963+25C>G) c.3801+25C>G (n.3801+25C>G) c.3834+25C>G (n.3834+25C>G) | gnomAD v4 |
3 | g.38562390G>T | CA2665111712 | SCN5A | c.3960+25C>A (n.3960+25C>A) c.3963+25C>A (n.3963+25C>A) c.3801+25C>A (n.3801+25C>A) c.3834+25C>A (n.3834+25C>A) | gnomAD v4 |
3 | g.38562391T>C | CA2665111714 | SCN5A | c.3960+24A>G (n.3960+24A>G) c.3963+24A>G (n.3963+24A>G) c.3801+24A>G (n.3801+24A>G) c.3834+24A>G (n.3834+24A>G) | gnomAD v4 |
3 | g.38562391T>G | CA062637 | SCN5A | c.3960+24A>C (n.3960+24A>C) c.3963+24A>C (n.3963+24A>C) c.3801+24A>C (n.3801+24A>C) c.3834+24A>C (n.3834+24A>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38562391T= | CA1358566680 | SCN5A | c.3960+24A= (n.3960+24A=) c.3963+24A= (n.3963+24A=) c.3801+24A= (n.3801+24A=) c.3834+24A= (n.3834+24A=) | |
3 | g.38562392G>A | CA2665111715 | SCN5A | c.3960+23C>T (n.3960+23C>T) c.3963+23C>T (n.3963+23C>T) c.3801+23C>T (n.3801+23C>T) c.3834+23C>T (n.3834+23C>T) | gnomAD v4 |
3 | g.38562392G>T | CA2665111716 | SCN5A | c.3960+23C>A (n.3960+23C>A) c.3963+23C>A (n.3963+23C>A) c.3801+23C>A (n.3801+23C>A) c.3834+23C>A (n.3834+23C>A) | gnomAD v4 |
3 | g.38562394G>A | CA2665111717 | SCN5A | c.3960+21C>T (n.3960+21C>T) c.3963+21C>T (n.3963+21C>T) c.3801+21C>T (n.3801+21C>T) c.3834+21C>T (n.3834+21C>T) | gnomAD v4 |
3 | g.38562394G>T | CA2665111718 | SCN5A | c.3960+21C>A (n.3960+21C>A) c.3963+21C>A (n.3963+21C>A) c.3801+21C>A (n.3801+21C>A) c.3834+21C>A (n.3834+21C>A) | gnomAD v4 |
3 | g.38562398G>A | CA062629 | SCN5A | c.3960+17C>T (n.3960+17C>T) c.3963+17C>T (n.3963+17C>T) c.3801+17C>T (n.3801+17C>T) c.3834+17C>T (n.3834+17C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.38562398G= | CA1358566681 | SCN5A | c.3960+17C= (n.3960+17C=) c.3963+17C= (n.3963+17C=) c.3801+17C= (n.3801+17C=) c.3834+17C= (n.3834+17C=) | |
3 | g.38562398G>T | CA2665111719 | SCN5A | c.3960+17C>A (n.3960+17C>A) c.3963+17C>A (n.3963+17C>A) c.3801+17C>A (n.3801+17C>A) c.3834+17C>A (n.3834+17C>A) | gnomAD v4 |
3 | g.38562399C>A | CA2665111720 | SCN5A | c.3960+16G>T (n.3960+16G>T) c.3963+16G>T (n.3963+16G>T) c.3801+16G>T (n.3801+16G>T) c.3834+16G>T (n.3834+16G>T) | gnomAD v4 |
3 | g.38562399C>T | CA2580069758 | SCN5A | c.3960+16G>A (n.3960+16G>A) c.3963+16G>A (n.3963+16G>A) c.3801+16G>A (n.3801+16G>A) c.3834+16G>A (n.3834+16G>A) | ClinVar gnomAD v4 |
3 | g.38562400A= | CA1358566682 | SCN5A | c.3960+15T= (n.3960+15T=) c.3963+15T= (n.3963+15T=) c.3801+15T= (n.3801+15T=) c.3834+15T= (n.3834+15T=) | |
3 | g.38562400A>C | CA433136432 | SCN5A | c.3960+15T>G (n.3960+15T>G) c.3963+15T>G (n.3963+15T>G) c.3801+15T>G (n.3801+15T>G) c.3834+15T>G (n.3834+15T>G) | |
3 | g.38562400A>T | CA062617 | SCN5A | c.3960+15T>A (n.3960+15T>A) c.3963+15T>A (n.3963+15T>A) c.3801+15T>A (n.3801+15T>A) c.3834+15T>A (n.3834+15T>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.38562401G>A | CA2577553141 | SCN5A | c.3960+14C>T (n.3960+14C>T) c.3963+14C>T (n.3963+14C>T) c.3801+14C>T (n.3801+14C>T) c.3834+14C>T (n.3834+14C>T) | gnomAD v4 |
3 | g.38562401G>T | CA2665111721 | SCN5A | c.3960+14C>A (n.3960+14C>A) c.3963+14C>A (n.3963+14C>A) c.3801+14C>A (n.3801+14C>A) c.3834+14C>A (n.3834+14C>A) | gnomAD v4 |
3 | g.38562402C>G | CA2702485865 | SCN5A | c.3960+13G>C (n.3960+13G>C) c.3963+13G>C (n.3963+13G>C) c.3801+13G>C (n.3801+13G>C) c.3834+13G>C (n.3834+13G>C) | dbSNP |
3 | g.38562402C>T | CA2665111722 | SCN5A | c.3960+13G>A (n.3960+13G>A) c.3963+13G>A (n.3963+13G>A) c.3801+13G>A (n.3801+13G>A) c.3834+13G>A (n.3834+13G>A) | ClinVar gnomAD v4 |
3 | g.38562403C>A | CA2665111723 | SCN5A | c.3960+12G>T (n.3960+12G>T) c.3963+12G>T (n.3963+12G>T) c.3801+12G>T (n.3801+12G>T) c.3834+12G>T (n.3834+12G>T) | gnomAD v4 |
3 | g.38562403C>T | CA2577553142 | SCN5A | c.3960+12G>A (n.3960+12G>A) c.3963+12G>A (n.3963+12G>A) c.3801+12G>A (n.3801+12G>A) c.3834+12G>A (n.3834+12G>A) | |
3 | g.38562404A>T | CA433136433 | SCN5A | c.3960+11T>A (n.3960+11T>A) c.3963+11T>A (n.3963+11T>A) c.3801+11T>A (n.3801+11T>A) c.3834+11T>A (n.3834+11T>A) | gnomAD v4 |
3 | g.38562405C>T | CA2499216735 | SCN5A | c.3960+10G>A (n.3960+10G>A) c.3963+10G>A (n.3963+10G>A) c.3801+10G>A (n.3801+10G>A) c.3834+10G>A (n.3834+10G>A) | ClinVar dbSNP |
3 | g.38562406C>A | CA2665111724 | SCN5A | c.3960+9G>T (n.3960+9G>T) c.3963+9G>T (n.3963+9G>T) c.3801+9G>T (n.3801+9G>T) c.3834+9G>T (n.3834+9G>T) | gnomAD v4 |
3 | g.38562406C>T | CA2665111725 | SCN5A | c.3960+9G>A (n.3960+9G>A) c.3963+9G>A (n.3963+9G>A) c.3801+9G>A (n.3801+9G>A) c.3834+9G>A (n.3834+9G>A) | gnomAD v4 |
3 | g.38562407T>A | CA2580069760 | SCN5A | c.3960+8A>T (n.3960+8A>T) c.3963+8A>T (n.3963+8A>T) c.3801+8A>T (n.3801+8A>T) c.3834+8A>T (n.3834+8A>T) | ClinVar gnomAD v4 |
3 | g.38562408C>T | CA2665111726 | SCN5A | c.3960+7G>A (n.3960+7G>A) c.3963+7G>A (n.3963+7G>A) c.3801+7G>A (n.3801+7G>A) c.3834+7G>A (n.3834+7G>A) | gnomAD v4 |
3 | g.38562409T>G | CA2665111727 | SCN5A | c.3960+6A>C (n.3960+6A>C) c.3963+6A>C (n.3963+6A>C) c.3801+6A>C (n.3801+6A>C) c.3834+6A>C (n.3834+6A>C) | gnomAD v4 |
3 | g.38562410C>G | CA2755899193 | SCN5A | c.3960+5G>C (n.3960+5G>C) c.3963+5G>C (n.3963+5G>C) c.3801+5G>C (n.3801+5G>C) c.3834+5G>C (n.3834+5G>C) | |
3 | g.38562411T>C | CA542270480 | SCN5A | c.3960+4A>G (n.3960+4A>G) c.3963+4A>G (n.3963+4A>G) c.3801+4A>G (n.3801+4A>G) c.3834+4A>G (n.3834+4A>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.38562411T= | CA1358566683 | SCN5A | c.3960+4A= (n.3960+4A=) c.3963+4A= (n.3963+4A=) c.3801+4A= (n.3801+4A=) c.3834+4A= (n.3834+4A=) | |
3 | g.38562413A= | CA1358566684 | SCN5A | c.3960+2T= (n.3960+2T=) c.3963+2T= (n.3963+2T=) c.3801+2T= (n.3801+2T=) c.3834+2T= (n.3834+2T=) | |
3 | g.38562413A>C | CA352148051 | SCN5A | c.3960+2T>G (n.3960+2T>G) c.3963+2T>G (n.3963+2T>G) c.3801+2T>G (n.3801+2T>G) c.3834+2T>G (n.3834+2T>G) | |
3 | g.38562413A>G | CA017663 | SCN5A | c.3960+2T>C (n.3960+2T>C) c.3963+2T>C (n.3963+2T>C) c.3801+2T>C (n.3801+2T>C) c.3834+2T>C (n.3834+2T>C) | ClinVar dbSNP |
3 | g.38562413A>T | CA352148052 | SCN5A | c.3960+2T>A (n.3960+2T>A) c.3963+2T>A (n.3963+2T>A) c.3801+2T>A (n.3801+2T>A) c.3834+2T>A (n.3834+2T>A) | |
3 | g.38562414C>A | CA352148053 | SCN5A | c.3960+1G>T (n.3960+1G>T) c.3963+1G>T (n.3963+1G>T) c.3801+1G>T (n.3801+1G>T) c.3834+1G>T (n.3834+1G>T) | ClinVar |
3 | g.38562414C= | CA1358566685 | SCN5A | c.3960+1G= (n.3960+1G=) c.3963+1G= (n.3963+1G=) c.3801+1G= (n.3801+1G=) c.3834+1G= (n.3834+1G=) | |
3 | g.38562414C>G | CA352148054 | SCN5A | c.3960+1G>C (n.3960+1G>C) c.3963+1G>C (n.3963+1G>C) c.3801+1G>C (n.3801+1G>C) c.3834+1G>C (n.3834+1G>C) | |
3 | g.38562414C>T | CA017659 | SCN5A | c.3960+1G>A (n.3960+1G>A) c.3963+1G>A (n.3963+1G>A) c.3801+1G>A (n.3801+1G>A) c.3834+1G>A (n.3834+1G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.38562420_38562427dup | CA913188110 | SCN5A | c.3954_3960+1dup c.3957_3963+1dup c.3795_3801+1dup c.3828_3834+1dup | ClinVar dbSNP |
3 | g.38562415C>A | CA352148055 | SCN5A | c.3960G>T (p.Arg1320Ser) c.3963G>T (p.Arg1321Ser) c.3801G>T (p.Arg1267Ser) c.3834G>T (p.Arg1278Ser) | |
3 | g.38562415C= | CA1358566686 | SCN5A | c.3960G= (p.Arg1320=) c.3963G= (p.Arg1321=) c.3801G= (p.Arg1267=) c.3834G= (p.Arg1278=) | |
3 | g.38562415C>G | CA352148056 | SCN5A | c.3960G>C (p.Arg1320Ser) c.3963G>C (p.Arg1321Ser) c.3801G>C (p.Arg1267Ser) c.3834G>C (p.Arg1278Ser) | |
3 | g.38562415C>T | CA72945745 | SCN5A | c.3960G>A (p.Arg1320=) c.3963G>A (p.Arg1321=) c.3801G>A (p.Arg1267=) c.3834G>A (p.Arg1278=) | dbSNP gnomAD v4 |
3 | g.38562416C>A | CA352148057 | SCN5A | c.3959G>T (p.Arg1320Met) c.3962G>T (p.Arg1321Met) c.3800G>T (p.Arg1267Met) c.3833G>T (p.Arg1278Met) | gnomAD v4 |
3 | g.38562416C= | CA1358566687 | SCN5A | c.3959G= (p.Arg1320=) c.3962G= (p.Arg1321=) c.3800G= (p.Arg1267=) c.3833G= (p.Arg1278=) | |
3 | g.38562416C>G | CA352148058 | SCN5A | c.3959G>C (p.Arg1320Thr) c.3962G>C (p.Arg1321Thr) c.3800G>C (p.Arg1267Thr) c.3833G>C (p.Arg1278Thr) | gnomAD v4 |
3 | g.38562416C>T | CA352148059 | SCN5A | c.3959G>A (p.Arg1320Lys) c.3962G>A (p.Arg1321Lys) c.3800G>A (p.Arg1267Lys) c.3833G>A (p.Arg1278Lys) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.38562417T>A | CA352148060 | SCN5A | c.3958A>T (p.Arg1320Trp) c.3961A>T (p.Arg1321Trp) c.3799A>T (p.Arg1267Trp) c.3832A>T (p.Arg1278Trp) | |
3 | g.38562417T>C | CA352148061 | SCN5A | c.3958A>G (p.Arg1320Gly) c.3961A>G (p.Arg1321Gly) c.3799A>G (p.Arg1267Gly) c.3832A>G (p.Arg1278Gly) | gnomAD v4 |
3 | g.38562417T>G | CA433136434 | SCN5A | c.3958A>C (p.Arg1320=) c.3961A>C (p.Arg1321=) c.3799A>C (p.Arg1267=) c.3832A>C (p.Arg1278=) | gnomAD v4 |
3 | g.38562418C>A | CA352148063 | SCN5A | c.3957G>T (p.Met1319Ile) c.3960G>T (p.Met1320Ile) c.3798G>T (p.Met1266Ile) c.3831G>T (p.Met1277Ile) | gnomAD v4 |
3 | g.38562418C= | CA1358566688 | SCN5A | c.3957G= (p.Met1319=) c.3960G= (p.Met1320=) c.3798G= (p.Met1266=) c.3831G= (p.Met1277=) | |
3 | g.38562418C>G | CA352148062 | SCN5A | c.3957G>C (p.Met1319Ile) c.3960G>C (p.Met1320Ile) c.3798G>C (p.Met1266Ile) c.3831G>C (p.Met1277Ile) | dbSNP |
3 | g.38562418C>T | CA062612 | SCN5A | c.3957G>A (p.Met1319Ile) c.3960G>A (p.Met1320Ile) c.3798G>A (p.Met1266Ile) c.3831G>A (p.Met1277Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.38562419A>C | CA352148064 | SCN5A | c.3956T>G (p.Met1319Arg) c.3959T>G (p.Met1320Arg) c.3797T>G (p.Met1266Arg) c.3830T>G (p.Met1277Arg) | |
3 | g.38562419A>G | CA352148065 | SCN5A | c.3956T>C (p.Met1319Thr) c.3959T>C (p.Met1320Thr) c.3797T>C (p.Met1266Thr) c.3830T>C (p.Met1277Thr) | |
3 | g.38562419A>T | CA352148066 | SCN5A | c.3956T>A (p.Met1319Lys) c.3959T>A (p.Met1320Lys) c.3797T>A (p.Met1266Lys) c.3830T>A (p.Met1277Lys) | |
3 | g.38562420T>A | CA352148067 | SCN5A | c.3955A>T (p.Met1319Leu) c.3958A>T (p.Met1320Leu) c.3796A>T (p.Met1266Leu) c.3829A>T (p.Met1277Leu) | |
3 | g.38562420T>C | CA352148068 | SCN5A | c.3955A>G (p.Met1319Val) c.3958A>G (p.Met1320Val) c.3796A>G (p.Met1266Val) c.3829A>G (p.Met1277Val) | ClinVar dbSNP gnomAD v4 |
3 | g.38562420T>G | CA352148069 | SCN5A | c.3955A>C (p.Met1319Leu) c.3958A>C (p.Met1320Leu) c.3796A>C (p.Met1266Leu) c.3829A>C (p.Met1277Leu) | |
3 | g.38562421G>A | CA433136435 | SCN5A | c.3954C>T (p.Gly1318=) c.3957C>T (p.Gly1319=) c.3795C>T (p.Gly1265=) c.3828C>T (p.Gly1276=) | |
3 | g.38562421G>C | CA433136436 | SCN5A | c.3954C>G (p.Gly1318=) c.3957C>G (p.Gly1319=) c.3795C>G (p.Gly1265=) c.3828C>G (p.Gly1276=) | |
3 | g.38562421G>T | CA433136437 | SCN5A | c.3954C>A (p.Gly1318=) c.3957C>A (p.Gly1319=) c.3795C>A (p.Gly1265=) c.3828C>A (p.Gly1276=) | |
3 | g.38562422C>A | CA017654 | SCN5A | c.3953G>T (p.Gly1318Val) c.3956G>T (p.Gly1319Val) c.3794G>T (p.Gly1265Val) c.3827G>T (p.Gly1276Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38562422C= | CA1358566689 | SCN5A | c.3953G= (p.Gly1318=) c.3956G= (p.Gly1319=) c.3794G= (p.Gly1265=) c.3827G= (p.Gly1276=) | |
3 | g.38562422C>G | CA352148070 | SCN5A | c.3953G>C (p.Gly1318Ala) c.3956G>C (p.Gly1319Ala) c.3794G>C (p.Gly1265Ala) c.3827G>C (p.Gly1276Ala) | |
3 | g.38562422C>T | CA352148071 | SCN5A | c.3953G>A (p.Gly1318Asp) c.3956G>A (p.Gly1319Asp) c.3794G>A (p.Gly1265Asp) c.3827G>A (p.Gly1276Asp) | gnomAD v4 COSMIC COSMIC COSMIC |
3 | g.38562423C>A | CA352148072 | SCN5A | c.3952G>T (p.Gly1318Cys) c.3955G>T (p.Gly1319Cys) c.3793G>T (p.Gly1265Cys) c.3826G>T (p.Gly1276Cys) | |
3 | g.38562423C= | CA1358566690 | SCN5A | c.3952G= (p.Gly1318=) c.3955G= (p.Gly1319=) c.3793G= (p.Gly1265=) c.3826G= (p.Gly1276=) | |
3 | g.38562423C>G | CA352148073 | SCN5A | c.3952G>C (p.Gly1318Arg) c.3955G>C (p.Gly1319Arg) c.3793G>C (p.Gly1265Arg) c.3826G>C (p.Gly1276Arg) | |
3 | g.38562423C>T | CA352148074 | SCN5A | c.3952G>A (p.Gly1318Ser) c.3955G>A (p.Gly1319Ser) c.3793G>A (p.Gly1265Ser) c.3826G>A (p.Gly1276Ser) | dbSNP |
3 | g.38562424C>A | CA352148075 | SCN5A | c.3951G>T (p.Glu1317Asp) c.3954G>T (p.Glu1318Asp) c.3792G>T (p.Glu1264Asp) c.3825G>T (p.Glu1275Asp) | |
3 | g.38562424C= | CA1358566691 | SCN5A | c.3951G= (p.Glu1317=) c.3954G= (p.Glu1318=) c.3792G= (p.Glu1264=) c.3825G= (p.Glu1275=) | |
3 | g.38562424C>G | CA352148076 | SCN5A | c.3951G>C (p.Glu1317Asp) c.3954G>C (p.Glu1318Asp) c.3792G>C (p.Glu1264Asp) c.3825G>C (p.Glu1275Asp) | |
3 | g.38562424C>T | CA062599 | SCN5A | c.3951G>A (p.Glu1317=) c.3954G>A (p.Glu1318=) c.3792G>A (p.Glu1264=) c.3825G>A (p.Glu1275=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38562425T>A | CA352148078 | SCN5A | c.3950A>T (p.Glu1317Val) c.3953A>T (p.Glu1318Val) c.3791A>T (p.Glu1264Val) c.3824A>T (p.Glu1275Val) | |
3 | g.38562425T>C | CA352148077 | SCN5A | c.3950A>G (p.Glu1317Gly) c.3953A>G (p.Glu1318Gly) c.3791A>G (p.Glu1264Gly) c.3824A>G (p.Glu1275Gly) | gnomAD v4 |
3 | g.38562425T>G | CA352148079 | SCN5A | c.3950A>C (p.Glu1317Ala) c.3953A>C (p.Glu1318Ala) c.3791A>C (p.Glu1264Ala) c.3824A>C (p.Glu1275Ala) | |
3 | g.38562426C>A | CA352148080 | SCN5A | c.3949G>T (p.Glu1317Ter) c.3952G>T (p.Glu1318Ter) c.3790G>T (p.Glu1264Ter) c.3823G>T (p.Glu1275Ter) | ClinVar dbSNP |
3 | g.38562426C= | CA1358566692 | SCN5A | c.3949G= (p.Glu1317=) c.3952G= (p.Glu1318=) c.3790G= (p.Glu1264=) c.3823G= (p.Glu1275=) | |
3 | g.38562426C>G | CA352148081 | SCN5A | c.3949G>C (p.Glu1317Gln) c.3952G>C (p.Glu1318Gln) c.3790G>C (p.Glu1264Gln) c.3823G>C (p.Glu1275Gln) | |
3 | g.38562426C>T | CA352148082 | SCN5A | c.3949G>A (p.Glu1317Lys) c.3952G>A (p.Glu1318Lys) c.3790G>A (p.Glu1264Lys) c.3823G>A (p.Glu1275Lys) | |
3 | g.38562427A= | CA1358566693 | SCN5A | c.3948T= (p.Phe1316=) c.3951T= (p.Phe1317=) c.3789T= (p.Phe1263=) c.3822T= (p.Phe1274=) | |
3 | g.38562427A>C | CA352148083 | SCN5A | c.3948T>G (p.Phe1316Leu) c.3951T>G (p.Phe1317Leu) c.3789T>G (p.Phe1263Leu) c.3822T>G (p.Phe1274Leu) | |
3 | g.38562427A>G | CA062593 | SCN5A | c.3948T>C (p.Phe1316=) c.3951T>C (p.Phe1317=) c.3789T>C (p.Phe1263=) c.3822T>C (p.Phe1274=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38562427A>T | CA352148084 | SCN5A | c.3948T>A (p.Phe1316Leu) c.3951T>A (p.Phe1317Leu) c.3789T>A (p.Phe1263Leu) c.3822T>A (p.Phe1274Leu) | |
3 | g.38562428A= | CA1358566694 | SCN5A | c.3947T= (p.Phe1316=) c.3950T= (p.Phe1317=) c.3788T= (p.Phe1263=) c.3821T= (p.Phe1274=) | |
3 | g.38562428A>C | CA062586 | SCN5A | c.3947T>G (p.Phe1316Cys) c.3950T>G (p.Phe1317Cys) c.3788T>G (p.Phe1263Cys) c.3821T>G (p.Phe1274Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38562428A>G | CA352148085 | SCN5A | c.3947T>C (p.Phe1316Ser) c.3950T>C (p.Phe1317Ser) c.3788T>C (p.Phe1263Ser) c.3821T>C (p.Phe1274Ser) | |
3 | g.38562428A>T | CA352148086 | SCN5A | c.3947T>A (p.Phe1316Tyr) c.3950T>A (p.Phe1317Tyr) c.3788T>A (p.Phe1263Tyr) c.3821T>A (p.Phe1274Tyr) | |
3 | g.38562429A= | CA1358566695 | SCN5A | c.3946T= (p.Phe1316=) c.3949T= (p.Phe1317=) c.3787T= (p.Phe1263=) c.3820T= (p.Phe1274=) | |
3 | g.38562429A>C | CA352148087 | SCN5A | c.3946T>G (p.Phe1316Val) c.3949T>G (p.Phe1317Val) c.3787T>G (p.Phe1263Val) c.3820T>G (p.Phe1274Val) | |
3 | g.38562429A>G | CA352148088 | SCN5A | c.3946T>C (p.Phe1316Leu) c.3949T>C (p.Phe1317Leu) c.3787T>C (p.Phe1263Leu) c.3820T>C (p.Phe1274Leu) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.38562429A>T | CA352148089 | SCN5A | c.3946T>A (p.Phe1316Ile) c.3949T>A (p.Phe1317Ile) c.3787T>A (p.Phe1263Ile) c.3820T>A (p.Phe1274Ile) | gnomAD v4 |
3 | g.38562430T>A | CA433136438 | SCN5A | c.3945A>T (p.Arg1315=) c.3948A>T (p.Arg1316=) c.3786A>T (p.Arg1262=) c.3819A>T (p.Arg1273=) | |
3 | g.38562430T>C | CA433136439 | SCN5A | c.3945A>G (p.Arg1315=) c.3948A>G (p.Arg1316=) c.3786A>G (p.Arg1262=) c.3819A>G (p.Arg1273=) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.38562430T>G | CA433136440 | SCN5A | c.3945A>C (p.Arg1315=) c.3948A>C (p.Arg1316=) c.3786A>C (p.Arg1262=) c.3819A>C (p.Arg1273=) | |
3 | g.38562430T= | CA1358566696 | SCN5A | c.3945A= (p.Arg1315=) c.3948A= (p.Arg1316=) c.3786A= (p.Arg1262=) c.3819A= (p.Arg1273=) | |
3 | g.38562431C>A | CA062580 | SCN5A | c.3944G>T (p.Arg1315Leu) c.3947G>T (p.Arg1316Leu) c.3785G>T (p.Arg1262Leu) c.3818G>T (p.Arg1273Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.38562431C= | CA1358566697 | SCN5A | c.3944G= (p.Arg1315=) c.3947G= (p.Arg1316=) c.3785G= (p.Arg1262=) c.3818G= (p.Arg1273=) | |
3 | g.38562431C>G | CA352148090 | SCN5A | c.3944G>C (p.Arg1315Pro) c.3947G>C (p.Arg1316Pro) c.3785G>C (p.Arg1262Pro) c.3818G>C (p.Arg1273Pro) | ClinVar dbSNP |
3 | g.38562431C>T | CA062577 | SCN5A | c.3944G>A (p.Arg1315Gln) c.3947G>A (p.Arg1316Gln) c.3785G>A (p.Arg1262Gln) c.3818G>A (p.Arg1273Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
3 | g.38562432G>A | CA352148091 | SCN5A | c.3943C>T (p.Arg1315Ter) c.3946C>T (p.Arg1316Ter) c.3784C>T (p.Arg1262Ter) c.3817C>T (p.Arg1273Ter) | ClinVar dbSNP gnomAD v4 |
3 | g.38562432G>C | CA352148092 | SCN5A | c.3943C>G (p.Arg1315Gly) c.3946C>G (p.Arg1316Gly) c.3784C>G (p.Arg1262Gly) c.3817C>G (p.Arg1273Gly) | |
3 | g.38562432G= | CA1358566698 | SCN5A | c.3943C= (p.Arg1315=) c.3946C= (p.Arg1316=) c.3784C= (p.Arg1262=) c.3817C= (p.Arg1273=) | |
3 | g.38562432G>T | CA433136441 | SCN5A | c.3943C>A (p.Arg1315=) c.3946C>A (p.Arg1316=) c.3784C>A (p.Arg1262=) c.3817C>A (p.Arg1273=) | |
3 | g.38562433T>A | CA062572 | SCN5A | c.3942A>T (p.Ser1314=) c.3945A>T (p.Ser1315=) c.3783A>T (p.Ser1261=) c.3816A>T (p.Ser1272=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38562433T>C | CA433136442 | SCN5A | c.3942A>G (p.Ser1314=) c.3945A>G (p.Ser1315=) c.3783A>G (p.Ser1261=) c.3816A>G (p.Ser1272=) | |
3 | g.38562433T>G | CA433136443 | SCN5A | c.3942A>C (p.Ser1314=) c.3945A>C (p.Ser1315=) c.3783A>C (p.Ser1261=) c.3816A>C (p.Ser1272=) | |
3 | g.38562433T= | CA1358566699 | SCN5A | c.3942A= (p.Ser1314=) c.3945A= (p.Ser1315=) c.3783A= (p.Ser1261=) c.3816A= (p.Ser1272=) | |
3 | g.38562434G>A | CA352148093 | SCN5A | c.3941C>T (p.Ser1314Leu) c.3944C>T (p.Ser1315Leu) c.3782C>T (p.Ser1261Leu) c.3815C>T (p.Ser1272Leu) | |
3 | g.38562434G>C | CA352148094 | SCN5A | c.3941C>G (p.Ser1314Ter) c.3944C>G (p.Ser1315Ter) c.3782C>G (p.Ser1261Ter) c.3815C>G (p.Ser1272Ter) | gnomAD v4 |
3 | g.38562434G= | CA1358566700 | SCN5A | c.3941C= (p.Ser1314=) c.3944C= (p.Ser1315=) c.3782C= (p.Ser1261=) c.3815C= (p.Ser1272=) | |
3 | g.38562434G>T | CA352148095 | SCN5A | c.3941C>A (p.Ser1314Ter) c.3944C>A (p.Ser1315Ter) c.3782C>A (p.Ser1261Ter) c.3815C>A (p.Ser1272Ter) | dbSNP gnomAD v2 |
3 | g.38562435A>C | CA352148096 | SCN5A | c.3940T>G (p.Ser1314Ala) c.3943T>G (p.Ser1315Ala) c.3781T>G (p.Ser1261Ala) c.3814T>G (p.Ser1272Ala) | |
3 | g.38562435A>G | CA352148097 | SCN5A | c.3940T>C (p.Ser1314Pro) c.3943T>C (p.Ser1315Pro) c.3781T>C (p.Ser1261Pro) c.3814T>C (p.Ser1272Pro) | |
3 | g.38562435A>T | CA352148098 | SCN5A | c.3940T>A (p.Ser1314Thr) c.3943T>A (p.Ser1315Thr) c.3781T>A (p.Ser1261Thr) c.3814T>A (p.Ser1272Thr) | |
3 | g.38562436C>A | CA433136444 | SCN5A | c.3939G>T (p.Leu1313=) c.3942G>T (p.Leu1314=) c.3780G>T (p.Leu1260=) c.3813G>T (p.Leu1271=) | |
3 | g.38562436C= | CA1358566702 | SCN5A | c.3939G= (p.Leu1313=) c.3942G= (p.Leu1314=) c.3780G= (p.Leu1260=) c.3813G= (p.Leu1271=) | |
3 | g.38562436C>G | CA433136446 | SCN5A | c.3939G>C (p.Leu1313=) c.3942G>C (p.Leu1314=) c.3780G>C (p.Leu1260=) c.3813G>C (p.Leu1271=) | gnomAD v4 |
3 | g.38562436C>T | CA433136445 | SCN5A | c.3939G>A (p.Leu1313=) c.3942G>A (p.Leu1314=) c.3780G>A (p.Leu1260=) c.3813G>A (p.Leu1271=) | dbSNP |
3 | g.38562436_38562438delinsCAG | CA1358566701 | SCN5A | c.3937_3939delinsCTG (p.Leu1313=) c.3940_3942delinsCTG (p.Leu1314=) c.3778_3780delinsCTG (p.Leu1260=) c.3811_3813delinsCTG (p.Leu1271=) | |
3 | g.38562437A>C | CA352148099 | SCN5A | c.3938T>G (p.Leu1313Arg) c.3941T>G (p.Leu1314Arg) c.3779T>G (p.Leu1260Arg) c.3812T>G (p.Leu1271Arg) | |
3 | g.38562437A>G | CA352148100 | SCN5A | c.3938T>C (p.Leu1313Pro) c.3941T>C (p.Leu1314Pro) c.3779T>C (p.Leu1260Pro) c.3812T>C (p.Leu1271Pro) | |
3 | g.38562437A>T | CA352148101 | SCN5A | c.3938T>A (p.Leu1313Gln) c.3941T>A (p.Leu1314Gln) c.3779T>A (p.Leu1260Gln) c.3812T>A (p.Leu1271Gln) | |
3 | g.38562439_38562440del | CA915942428 | SCN5A | c.3937_3938del (p.Leu1313ValfsTer4) c.3940_3941del (p.Leu1314ValfsTer4) c.3778_3779del (p.Leu1260ValfsTer4) c.3811_3812del (p.Leu1271ValfsTer4) | ClinVar dbSNP |
3 | g.38562438G>A | CA433136447 | SCN5A | c.3937C>T (p.Leu1313=) c.3940C>T (p.Leu1314=) c.3778C>T (p.Leu1260=) c.3811C>T (p.Leu1271=) | |
3 | g.38562438G>C | CA352148102 | SCN5A | c.3937C>G (p.Leu1313Val) c.3940C>G (p.Leu1314Val) c.3778C>G (p.Leu1260Val) c.3811C>G (p.Leu1271Val) | |
3 | g.38562438G>T | CA352148103 | SCN5A | c.3937C>A (p.Leu1313Met) c.3940C>A (p.Leu1314Met) c.3778C>A (p.Leu1260Met) c.3811C>A (p.Leu1271Met) | |
3 | g.38562439A= | CA1358566703 | SCN5A | c.3936T= (p.Ala1312=) c.3939T= (p.Ala1313=) c.3777T= (p.Ala1259=) c.3810T= (p.Ala1270=) | |
3 | g.38562439A>C | CA433136448 | SCN5A | c.3936T>G (p.Ala1312=) c.3939T>G (p.Ala1313=) c.3777T>G (p.Ala1259=) c.3810T>G (p.Ala1270=) | |
3 | g.38562439A>G | CA433136449 | SCN5A | c.3936T>C (p.Ala1312=) c.3939T>C (p.Ala1313=) c.3777T>C (p.Ala1259=) c.3810T>C (p.Ala1270=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.38562439A>T | CA433136450 | SCN5A | c.3936T>A (p.Ala1312=) c.3939T>A (p.Ala1313=) c.3777T>A (p.Ala1259=) c.3810T>A (p.Ala1270=) | |
3 | g.38562440G>A | CA352148104 | SCN5A | c.3935C>T (p.Ala1312Val) c.3938C>T (p.Ala1313Val) c.3776C>T (p.Ala1259Val) c.3809C>T (p.Ala1270Val) | |
3 | g.38562440G>C | CA352148105 | SCN5A | c.3935C>G (p.Ala1312Gly) c.3938C>G (p.Ala1313Gly) c.3776C>G (p.Ala1259Gly) c.3809C>G (p.Ala1270Gly) | |
3 | g.38562440G>T | CA352148106 | SCN5A | c.3935C>A (p.Ala1312Asp) c.3938C>A (p.Ala1313Asp) c.3776C>A (p.Ala1259Asp) c.3809C>A (p.Ala1270Asp) | |
3 | g.38562441C>A | CA352148107 | SCN5A | c.3934G>T (p.Ala1312Ser) c.3937G>T (p.Ala1313Ser) c.3775G>T (p.Ala1259Ser) c.3808G>T (p.Ala1270Ser) | |
3 | g.38562441C>G | CA352148108 | SCN5A | c.3934G>C (p.Ala1312Pro) c.3937G>C (p.Ala1313Pro) c.3775G>C (p.Ala1259Pro) c.3808G>C (p.Ala1270Pro) | |
3 | g.38562441C>T | CA352148109 | SCN5A | c.3934G>A (p.Ala1312Thr) c.3937G>A (p.Ala1313Thr) c.3775G>A (p.Ala1259Thr) c.3808G>A (p.Ala1270Thr) | gnomAD v4 |
3 | g.38562442T>A | CA352148110 | SCN5A | c.3933A>T (p.Arg1311Ser) c.3936A>T (p.Arg1312Ser) c.3774A>T (p.Arg1258Ser) c.3807A>T (p.Arg1269Ser) | |
3 | g.38562442T>C | CA433136451 | SCN5A | c.3933A>G (p.Arg1311=) c.3936A>G (p.Arg1312=) c.3774A>G (p.Arg1258=) c.3807A>G (p.Arg1269=) | |
3 | g.38562442T>G | CA352148111 | SCN5A | c.3933A>C (p.Arg1311Ser) c.3936A>C (p.Arg1312Ser) c.3774A>C (p.Arg1258Ser) c.3807A>C (p.Arg1269Ser) | |
3 | g.38562443C>A | CA352148112 | SCN5A | c.3932G>T (p.Arg1311Ile) c.3935G>T (p.Arg1312Ile) c.3773G>T (p.Arg1258Ile) c.3806G>T (p.Arg1269Ile) | |
3 | g.38562443C= | CA1358566704 | SCN5A | c.3932G= (p.Arg1311=) c.3935G= (p.Arg1312=) c.3773G= (p.Arg1258=) c.3806G= (p.Arg1269=) | |
3 | g.38562443C>G | CA352148113 | SCN5A | c.3932G>C (p.Arg1311Thr) c.3935G>C (p.Arg1312Thr) c.3773G>C (p.Arg1258Thr) c.3806G>C (p.Arg1269Thr) | dbSNP |
3 | g.38562443C>T | CA352148114 | SCN5A | c.3932G>A (p.Arg1311Lys) c.3935G>A (p.Arg1312Lys) c.3773G>A (p.Arg1258Lys) c.3806G>A (p.Arg1269Lys) | |
3 | g.38562444T>A | CA352148115 | SCN5A | c.3931A>T (p.Arg1311Ter) c.3934A>T (p.Arg1312Ter) c.3772A>T (p.Arg1258Ter) c.3805A>T (p.Arg1269Ter) | dbSNP |
3 | g.38562444T>C | CA352148116 | SCN5A | c.3931A>G (p.Arg1311Gly) c.3934A>G (p.Arg1312Gly) c.3772A>G (p.Arg1258Gly) c.3805A>G (p.Arg1269Gly) | |
3 | g.38562444T>G | CA433136452 | SCN5A | c.3931A>C (p.Arg1311=) c.3934A>C (p.Arg1312=) c.3772A>C (p.Arg1258=) c.3805A>C (p.Arg1269=) | |
3 | g.38562444T= | CA1358566705 | SCN5A | c.3931A= (p.Arg1311=) c.3934A= (p.Arg1312=) c.3772A= (p.Arg1258=) c.3805A= (p.Arg1269=) | |
3 | g.38562445C>A | CA433136453 | SCN5A | c.3930G>T (p.Leu1310=) c.3933G>T (p.Leu1311=) c.3771G>T (p.Leu1257=) c.3804G>T (p.Leu1268=) | gnomAD v4 |
3 | g.38562445C= | CA1358566706 | SCN5A | c.3930G= (p.Leu1310=) c.3933G= (p.Leu1311=) c.3771G= (p.Leu1257=) c.3804G= (p.Leu1268=) | |
3 | g.38562445C>G | CA433136455 | SCN5A | c.3930G>C (p.Leu1310=) c.3933G>C (p.Leu1311=) c.3771G>C (p.Leu1257=) c.3804G>C (p.Leu1268=) | dbSNP |
3 | g.38562445C>T | CA433136456 | SCN5A | c.3930G>A (p.Leu1310=) c.3933G>A (p.Leu1311=) c.3771G>A (p.Leu1257=) c.3804G>A (p.Leu1268=) | |
3 | g.38562446A= | CA1358566707 | SCN5A | c.3929T= (p.Leu1310=) c.3932T= (p.Leu1311=) c.3770T= (p.Leu1257=) c.3803T= (p.Leu1268=) | |
3 | g.38562446A>C | CA352148117 | SCN5A | c.3929T>G (p.Leu1310Arg) c.3932T>G (p.Leu1311Arg) c.3770T>G (p.Leu1257Arg) c.3803T>G (p.Leu1268Arg) | |
3 | g.38562446A>G | CA017639 | SCN5A | c.3929T>C (p.Leu1310Pro) c.3932T>C (p.Leu1311Pro) c.3770T>C (p.Leu1257Pro) c.3803T>C (p.Leu1268Pro) | ClinVar dbSNP |
3 | g.38562446A>T | CA352148118 | SCN5A | c.3929T>A (p.Leu1310Gln) c.3932T>A (p.Leu1311Gln) c.3770T>A (p.Leu1257Gln) c.3803T>A (p.Leu1268Gln) | |
3 | g.38562448_38562449del | CA2586965794 | SCN5A | c.3928_3929del (p.Leu1310GlufsTer7) c.3931_3932del (p.Leu1311GlufsTer7) c.3769_3770del (p.Leu1257GlufsTer7) c.3802_3803del (p.Leu1268GlufsTer7) | |
3 | g.38562447G>A | CA433136457 | SCN5A | c.3928C>T (p.Leu1310=) c.3931C>T (p.Leu1311=) c.3769C>T (p.Leu1257=) c.3802C>T (p.Leu1268=) | |
3 | g.38562447G>C | CA352148119 | SCN5A | c.3928C>G (p.Leu1310Val) c.3931C>G (p.Leu1311Val) c.3769C>G (p.Leu1257Val) c.3802C>G (p.Leu1268Val) | |
3 | g.38562447G>T | CA352148120 | SCN5A | c.3928C>A (p.Leu1310Met) c.3931C>A (p.Leu1311Met) c.3769C>A (p.Leu1257Met) c.3802C>A (p.Leu1268Met) | COSMIC COSMIC COSMIC |
3 | g.38562448A>C | CA433136458 | SCN5A | c.3927T>G (p.Pro1309=) c.3930T>G (p.Pro1310=) c.3768T>G (p.Pro1256=) c.3801T>G (p.Pro1267=) | |
3 | g.38562448A>G | CA433136459 | SCN5A | c.3927T>C (p.Pro1309=) c.3930T>C (p.Pro1310=) c.3768T>C (p.Pro1256=) c.3801T>C (p.Pro1267=) | |
3 | g.38562448A>T | CA433136460 | SCN5A | c.3927T>A (p.Pro1309=) c.3930T>A (p.Pro1310=) c.3768T>A (p.Pro1256=) c.3801T>A (p.Pro1267=) | |
3 | g.38562449G>A | CA352148121 | SCN5A | c.3926C>T (p.Pro1309Leu) c.3929C>T (p.Pro1310Leu) c.3767C>T (p.Pro1256Leu) c.3800C>T (p.Pro1267Leu) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
3 | g.38562449G>C | CA352148122 | SCN5A | c.3926C>G (p.Pro1309Arg) c.3929C>G (p.Pro1310Arg) c.3767C>G (p.Pro1256Arg) c.3800C>G (p.Pro1267Arg) | |
3 | g.38562449G= | CA1358566708 | SCN5A | c.3926C= (p.Pro1309=) c.3929C= (p.Pro1310=) c.3767C= (p.Pro1256=) c.3800C= (p.Pro1267=) | |
3 | g.38562449G>T | CA352148123 | SCN5A | c.3926C>A (p.Pro1309His) c.3929C>A (p.Pro1310His) c.3767C>A (p.Pro1256His) c.3800C>A (p.Pro1267His) | gnomAD v4 |
3 | g.38562450G>A | CA352148124 | SCN5A | c.3925C>T (p.Pro1309Ser) c.3928C>T (p.Pro1310Ser) c.3766C>T (p.Pro1256Ser) c.3799C>T (p.Pro1267Ser) | ClinVar dbSNP |
3 | g.38562450G>C | CA352148125 | SCN5A | c.3925C>G (p.Pro1309Ala) c.3928C>G (p.Pro1310Ala) c.3766C>G (p.Pro1256Ala) c.3799C>G (p.Pro1267Ala) | |
3 | g.38562450G= | CA1358566709 | SCN5A | c.3925C= (p.Pro1309=) c.3928C= (p.Pro1310=) c.3766C= (p.Pro1256=) c.3799C= (p.Pro1267=) | |
3 | g.38562450G>T | CA352148126 | SCN5A | c.3925C>A (p.Pro1309Thr) c.3928C>A (p.Pro1310Thr) c.3766C>A (p.Pro1256Thr) c.3799C>A (p.Pro1267Thr) | |
3 | g.38562451A>C | CA433136461 | SCN5A | c.3924T>G (p.Arg1308=) c.3927T>G (p.Arg1309=) c.3765T>G (p.Arg1255=) c.3798T>G (p.Arg1266=) | |
3 | g.38562451A>G | CA433136462 | SCN5A | c.3924T>C (p.Arg1308=) c.3927T>C (p.Arg1309=) c.3765T>C (p.Arg1255=) c.3798T>C (p.Arg1266=) | ClinVar dbSNP |
3 | g.38562451A>T | CA433136463 | SCN5A | c.3924T>A (p.Arg1308=) c.3927T>A (p.Arg1309=) c.3765T>A (p.Arg1255=) c.3798T>A (p.Arg1266=) | |
3 | g.38562452C>A | CA352148127 | SCN5A | c.3923G>T (p.Arg1308Leu) c.3926G>T (p.Arg1309Leu) c.3764G>T (p.Arg1255Leu) c.3797G>T (p.Arg1266Leu) | gnomAD v4 |
3 | g.38562452C= | CA1358566710 | SCN5A | c.3923G= (p.Arg1308=) c.3926G= (p.Arg1309=) c.3764G= (p.Arg1255=) c.3797G= (p.Arg1266=) | |
3 | g.38562452C>G | CA352148128 | SCN5A | c.3923G>C (p.Arg1308Pro) c.3926G>C (p.Arg1309Pro) c.3764G>C (p.Arg1255Pro) c.3797G>C (p.Arg1266Pro) | |
3 | g.38562452C>T | CA017632 | SCN5A | c.3923G>A (p.Arg1308His) c.3926G>A (p.Arg1309His) c.3764G>A (p.Arg1255His) c.3797G>A (p.Arg1266His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38562453G>A | CA10588360 | SCN5A | c.3922C>T (p.Arg1308Cys) c.3925C>T (p.Arg1309Cys) c.3763C>T (p.Arg1255Cys) c.3796C>T (p.Arg1266Cys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.38562453G>C | CA352148130 | SCN5A | c.3922C>G (p.Arg1308Gly) c.3925C>G (p.Arg1309Gly) c.3763C>G (p.Arg1255Gly) c.3796C>G (p.Arg1266Gly) | |
3 | g.38562453G= | CA1358566711 | SCN5A | c.3922C= (p.Arg1308=) c.3925C= (p.Arg1309=) c.3763C= (p.Arg1255=) c.3796C= (p.Arg1266=) | |
3 | g.38562453G>T | CA352148129 | SCN5A | c.3922C>A (p.Arg1308Ser) c.3925C>A (p.Arg1309Ser) c.3763C>A (p.Arg1255Ser) c.3796C>A (p.Arg1266Ser) | COSMIC COSMIC COSMIC |
3 | g.38562454G>A | CA433136464 | SCN5A | c.3921C>T (p.Leu1307=) c.3924C>T (p.Leu1308=) c.3762C>T (p.Leu1254=) c.3795C>T (p.Leu1265=) | COSMIC COSMIC COSMIC |
3 | g.38562454G>C | CA433136465 | SCN5A | c.3921C>G (p.Leu1307=) c.3924C>G (p.Leu1308=) c.3762C>G (p.Leu1254=) c.3795C>G (p.Leu1265=) | ClinVar dbSNP |
3 | g.38562454G>T | CA433136466 | SCN5A | c.3921C>A (p.Leu1307=) c.3924C>A (p.Leu1308=) c.3762C>A (p.Leu1254=) c.3795C>A (p.Leu1265=) | COSMIC COSMIC COSMIC |
3 | g.38562455A>C | CA352148131 | SCN5A | c.3920T>G (p.Leu1307Arg) c.3923T>G (p.Leu1308Arg) c.3761T>G (p.Leu1254Arg) c.3794T>G (p.Leu1265Arg) | |
3 | g.38562455A>G | CA352148132 | SCN5A | c.3920T>C (p.Leu1307Pro) c.3923T>C (p.Leu1308Pro) c.3761T>C (p.Leu1254Pro) c.3794T>C (p.Leu1265Pro) | |
3 | g.38562455A>T | CA352148133 | SCN5A | c.3920T>A (p.Leu1307His) c.3923T>A (p.Leu1308His) c.3761T>A (p.Leu1254His) c.3794T>A (p.Leu1265His) | |
3 | g.38562456G>A | CA017626 | SCN5A | c.3919C>T (p.Leu1307Phe) c.3922C>T (p.Leu1308Phe) c.3760C>T (p.Leu1254Phe) c.3793C>T (p.Leu1265Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.[38562456G>A;38613752C>T] | CA085417 | SCN5A | c.[694G>A;3919C>T] (p.[Val232Ile;Leu1307Phe]) c.[694G>A;3922C>T] (p.[Val232Ile;Leu1308Phe]) c.[703+223G>A;3922C>T] (p.Leu1308Phe) c.[694G>A;3760C>T] (p.[Val232Ile;Leu1254Phe]) c.[703+223G>A;3760C>T] (p.Leu1254Phe) c.[703+223G>A;3919C>T] (p.Leu1307Phe) c.[565G>A;3793C>T] (p.[Val189Ile;Leu1265Phe]) | |
3 | g.38562456G>C | CA352148134 | SCN5A | c.3919C>G (p.Leu1307Val) c.3922C>G (p.Leu1308Val) c.3760C>G (p.Leu1254Val) c.3793C>G (p.Leu1265Val) | |
3 | g.38562456G= | CA1358566712 | SCN5A | c.3919C= (p.Leu1307=) c.3922C= (p.Leu1308=) c.3760C= (p.Leu1254=) c.3793C= (p.Leu1265=) | |
3 | g.38562456G>T | CA352148135 | SCN5A | c.3919C>A (p.Leu1307Ile) c.3922C>A (p.Leu1308Ile) c.3760C>A (p.Leu1254Ile) c.3793C>A (p.Leu1265Ile) | |
3 | g.38562457T>A | CA433136471 | SCN5A | c.3918A>T (p.Ala1306=) c.3921A>T (p.Ala1307=) c.3759A>T (p.Ala1253=) c.3792A>T (p.Ala1264=) | |
3 | g.38562457T>C | CA433136470 | SCN5A | c.3918A>G (p.Ala1306=) c.3921A>G (p.Ala1307=) c.3759A>G (p.Ala1253=) c.3792A>G (p.Ala1264=) | ClinVar |
3 | g.38562457T>G | CA433136469 | SCN5A | c.3918A>C (p.Ala1306=) c.3921A>C (p.Ala1307=) c.3759A>C (p.Ala1253=) c.3792A>C (p.Ala1264=) | |
3 | g.38562458G>A | CA352148138 | SCN5A | c.3917C>T (p.Ala1306Val) c.3920C>T (p.Ala1307Val) c.3758C>T (p.Ala1253Val) c.3791C>T (p.Ala1264Val) | |
3 | g.38562458G>C | CA352148136 | SCN5A | c.3917C>G (p.Ala1306Gly) c.3920C>G (p.Ala1307Gly) c.3758C>G (p.Ala1253Gly) c.3791C>G (p.Ala1264Gly) | |
3 | g.38562458G>T | CA352148137 | SCN5A | c.3917C>A (p.Ala1306Glu) c.3920C>A (p.Ala1307Glu) c.3758C>A (p.Ala1253Glu) c.3791C>A (p.Ala1264Glu) | |
3 | g.38562459C>A | CA352148139 | SCN5A | c.3916G>T (p.Ala1306Ser) c.3919G>T (p.Ala1307Ser) c.3757G>T (p.Ala1253Ser) c.3790G>T (p.Ala1264Ser) | |
3 | g.38562459C>G | CA352148140 | SCN5A | c.3916G>C (p.Ala1306Pro) c.3919G>C (p.Ala1307Pro) c.3757G>C (p.Ala1253Pro) c.3790G>C (p.Ala1264Pro) | |
3 | g.38562459C>T | CA352148141 | SCN5A | c.3916G>A (p.Ala1306Thr) c.3919G>A (p.Ala1307Thr) c.3757G>A (p.Ala1253Thr) c.3790G>A (p.Ala1264Thr) | |
3 | g.38562460A>C | CA433136474 | SCN5A | c.3915T>G (p.Arg1305=) c.3918T>G (p.Arg1306=) c.3756T>G (p.Arg1252=) c.3789T>G (p.Arg1263=) | |
3 | g.38562460A>G | CA433136473 | SCN5A | c.3915T>C (p.Arg1305=) c.3918T>C (p.Arg1306=) c.3756T>C (p.Arg1252=) c.3789T>C (p.Arg1263=) | |
3 | g.38562460A>T | CA433136472 | SCN5A | c.3915T>A (p.Arg1305=) c.3918T>A (p.Arg1306=) c.3756T>A (p.Arg1252=) c.3789T>A (p.Arg1263=) | |
3 | g.38562461C>A | CA352148142 | SCN5A | c.3914G>T (p.Arg1305Leu) c.3917G>T (p.Arg1306Leu) c.3755G>T (p.Arg1252Leu) c.3788G>T (p.Arg1263Leu) | ClinVar dbSNP |
3 | g.38562461C= | CA1358566713 | SCN5A | c.3914G= (p.Arg1305=) c.3917G= (p.Arg1306=) c.3755G= (p.Arg1252=) c.3788G= (p.Arg1263=) | |
3 | g.38562461C>G | CA352148143 | SCN5A | c.3914G>C (p.Arg1305Pro) c.3917G>C (p.Arg1306Pro) c.3755G>C (p.Arg1252Pro) c.3788G>C (p.Arg1263Pro) | |
3 | g.38562461C>T | CA017618 | SCN5A | c.3914G>A (p.Arg1305His) c.3917G>A (p.Arg1306His) c.3755G>A (p.Arg1252His) c.3788G>A (p.Arg1263His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38562462G>A | CA352148144 | SCN5A | c.3913C>T (p.Arg1305Cys) c.3916C>T (p.Arg1306Cys) c.3754C>T (p.Arg1252Cys) c.3787C>T (p.Arg1263Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38562462G>C | CA352148146 | SCN5A | c.3913C>G (p.Arg1305Gly) c.3916C>G (p.Arg1306Gly) c.3754C>G (p.Arg1252Gly) c.3787C>G (p.Arg1263Gly) | ClinVar dbSNP |
3 | g.38562462G= | CA1358566714 | SCN5A | c.3913C= (p.Arg1305=) c.3916C= (p.Arg1306=) c.3754C= (p.Arg1252=) c.3787C= (p.Arg1263=) | |
3 | g.38562462G>T | CA352148145 | SCN5A | c.3913C>A (p.Arg1305Ser) c.3916C>A (p.Arg1306Ser) c.3754C>A (p.Arg1252Ser) c.3787C>A (p.Arg1263Ser) | ClinVar dbSNP gnomAD v2 |
3 | g.38562463C>A | CA433136476 | SCN5A | c.3912G>T (p.Leu1304=) c.3915G>T (p.Leu1305=) c.3753G>T (p.Leu1251=) c.3786G>T (p.Leu1262=) | |
3 | g.38562463C= | CA1358566715 | SCN5A | c.3912G= (p.Leu1304=) c.3915G= (p.Leu1305=) c.3753G= (p.Leu1251=) c.3786G= (p.Leu1262=) | |
3 | g.38562463C>G | CA433136477 | SCN5A | c.3912G>C (p.Leu1304=) c.3915G>C (p.Leu1305=) c.3753G>C (p.Leu1251=) c.3786G>C (p.Leu1262=) | |
3 | g.38562463C>T | CA72945806 | SCN5A | c.3912G>A (p.Leu1304=) c.3915G>A (p.Leu1305=) c.3753G>A (p.Leu1251=) c.3786G>A (p.Leu1262=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38562464A>C | CA352148147 | SCN5A | c.3911T>G (p.Leu1304Arg) c.3914T>G (p.Leu1305Arg) c.3752T>G (p.Leu1251Arg) c.3785T>G (p.Leu1262Arg) | |
3 | g.38562464A>G | CA352148148 | SCN5A | c.3911T>C (p.Leu1304Pro) c.3914T>C (p.Leu1305Pro) c.3752T>C (p.Leu1251Pro) c.3785T>C (p.Leu1262Pro) | gnomAD v4 |
3 | g.38562464A>T | CA352148149 | SCN5A | c.3911T>A (p.Leu1304Gln) c.3914T>A (p.Leu1305Gln) c.3752T>A (p.Leu1251Gln) c.3785T>A (p.Leu1262Gln) | |
3 | g.38562465G>A | CA433136478 | SCN5A | c.3910C>T (p.Leu1304=) c.3913C>T (p.Leu1305=) c.3751C>T (p.Leu1251=) c.3784C>T (p.Leu1262=) | ClinVar dbSNP |
3 | g.38562465G>C | CA352148150 | SCN5A | c.3910C>G (p.Leu1304Val) c.3913C>G (p.Leu1305Val) c.3751C>G (p.Leu1251Val) c.3784C>G (p.Leu1262Val) | |
3 | g.38562465G= | CA1358566716 | SCN5A | c.3910C= (p.Leu1304=) c.3913C= (p.Leu1305=) c.3751C= (p.Leu1251=) c.3784C= (p.Leu1262=) | |
3 | g.38562465G>T | CA352148151 | SCN5A | c.3910C>A (p.Leu1304Met) c.3913C>A (p.Leu1305Met) c.3751C>A (p.Leu1251Met) c.3784C>A (p.Leu1262Met) |