Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.65239889G>A | CA2575215397 | LEMD3 | c.1922-40G>A (n.1922-40G>A) c.1919-40G>A (n.1919-40G>A) | |
12 | g.65239889G>C | CA605710058 | LEMD3 | c.1922-40G>C (n.1922-40G>C) c.1919-40G>C (n.1919-40G>C) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.65239889G= | CA2042446309 | LEMD3 | c.1922-40G= (n.1922-40G=) c.1919-40G= (n.1919-40G=) | |
12 | g.65239889G>T | CA2619669555 | LEMD3 | c.1922-40G>T (n.1922-40G>T) c.1919-40G>T (n.1919-40G>T) | gnomAD v4 |
12 | g.65239890A>T | CA2575215398 | LEMD3 | c.1922-39A>T (n.1922-39A>T) c.1919-39A>T (n.1919-39A>T) | |
12 | g.65239891C>A | CA2575215399 | LEMD3 | c.1922-38C>A (n.1922-38C>A) c.1919-38C>A (n.1919-38C>A) | gnomAD v4 |
12 | g.65239892C>A | CA2547704322 | LEMD3 | c.1922-37C>A (n.1922-37C>A) c.1919-37C>A (n.1919-37C>A) | gnomAD v4 |
12 | g.65239894C>A | CA605710059 | LEMD3 | c.1922-35C>A (n.1922-35C>A) c.1919-35C>A (n.1919-35C>A) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.65239894C= | CA2042446312 | LEMD3 | c.1922-35C= (n.1922-35C=) c.1919-35C= (n.1919-35C=) | |
12 | g.65239894C>T | CA2042446315 | LEMD3 | c.1922-35C>T (n.1922-35C>T) c.1919-35C>T (n.1919-35C>T) | dbSNP gnomAD v4 |
12 | g.65239896A= | CA2042446320 | LEMD3 | c.1922-33A= (n.1922-33A=) c.1919-33A= (n.1919-33A=) | |
12 | g.65239896A>G | CA605710060 | LEMD3 | c.1922-33A>G (n.1922-33A>G) c.1919-33A>G (n.1919-33A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.65239897T>C | CA605710061 | LEMD3 | c.1922-32T>C (n.1922-32T>C) c.1919-32T>C (n.1919-32T>C) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.65239897T= | CA2042446324 | LEMD3 | c.1922-32T= (n.1922-32T=) c.1919-32T= (n.1919-32T=) | |
12 | g.65239901T>C | CA2619669556 | LEMD3 | c.1922-28T>C (n.1922-28T>C) c.1919-28T>C (n.1919-28T>C) | gnomAD v4 |
12 | g.65239902A>T | CA2575215400 | LEMD3 | c.1922-27A>T (n.1922-27A>T) c.1919-27A>T (n.1919-27A>T) | gnomAD v4 |
12 | g.65239904A>T | CA2619669557 | LEMD3 | c.1922-25A>T (n.1922-25A>T) c.1919-25A>T (n.1919-25A>T) | gnomAD v4 |
12 | g.65239908_65239922del | CA2796331435 | LEMD3 | c.1922-21_1922-7del (n.1922-21_1922-7del) c.1919-21_1919-7del (n.1919-21_1919-7del) | |
12 | g.65239905A= | CA2042446335 | LEMD3 | c.1922-24A= (n.1922-24A=) c.1919-24A= (n.1919-24A=) | |
12 | g.65239905A>G | CA2619669558 | LEMD3 | c.1922-24A>G (n.1922-24A>G) c.1919-24A>G (n.1919-24A>G) | gnomAD v4 |
12 | g.65239905A>T | CA691028878 | LEMD3 | c.1922-24A>T (n.1922-24A>T) c.1919-24A>T (n.1919-24A>T) | dbSNP |
12 | g.65239908C>A | CA2619669559 | LEMD3 | c.1922-21C>A (n.1922-21C>A) c.1919-21C>A (n.1919-21C>A) | gnomAD v4 |
12 | g.65239909A= | CA2042446340 | LEMD3 | c.1922-20A= (n.1922-20A=) c.1919-20A= (n.1919-20A=) | |
12 | g.65239909A>G | CA6671075 | LEMD3 | c.1922-20A>G (n.1922-20A>G) c.1919-20A>G (n.1919-20A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.65239909A>T | CA2619669560 | LEMD3 | c.1922-20A>T (n.1922-20A>T) c.1919-20A>T (n.1919-20A>T) | gnomAD v4 |
12 | g.65239910A= | CA2042446345 | LEMD3 | c.1922-19A= (n.1922-19A=) c.1919-19A= (n.1919-19A=) | |
12 | g.65239910A>G | CA6671077 | LEMD3 | c.1922-19A>G (n.1922-19A>G) c.1919-19A>G (n.1919-19A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.65239910A>T | CA6671076 | LEMD3 | c.1922-19A>T (n.1922-19A>T) c.1919-19A>T (n.1919-19A>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.65239911A>T | CA2619669561 | LEMD3 | c.1922-18A>T (n.1922-18A>T) c.1919-18A>T (n.1919-18A>T) | gnomAD v4 |
12 | g.65239912G>A | CA6671078 | LEMD3 | c.1922-17G>A (n.1922-17G>A) c.1919-17G>A (n.1919-17G>A) | dbSNP ExAC gnomAD v2 |
12 | g.65239912G= | CA2042446353 | LEMD3 | c.1922-17G= (n.1922-17G=) c.1919-17G= (n.1919-17G=) | |
12 | g.65239912G>T | CA605710062 | LEMD3 | c.1922-17G>T (n.1922-17G>T) c.1919-17G>T (n.1919-17G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.65239913T>C | CA6671079 | LEMD3 | c.1922-16T>C (n.1922-16T>C) c.1919-16T>C (n.1919-16T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.65239913T= | CA2042446357 | LEMD3 | c.1922-16T= (n.1922-16T=) c.1919-16T= (n.1919-16T=) | |
12 | g.65239914A= | CA2042446362 | LEMD3 | c.1922-15A= (n.1922-15A=) c.1919-15A= (n.1919-15A=) | |
12 | g.65239914A>G | CA6671080 | LEMD3 | c.1922-15A>G (n.1922-15A>G) c.1919-15A>G (n.1919-15A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.65239916A>G | CA2575215401 | LEMD3 | c.1922-13A>G (n.1922-13A>G) c.1919-13A>G (n.1919-13A>G) | gnomAD v4 |
12 | g.65239916A>T | CA2619669562 | LEMD3 | c.1922-13A>T (n.1922-13A>T) c.1919-13A>T (n.1919-13A>T) | gnomAD v4 |
12 | g.65239917T>G | CA2619669564 | LEMD3 | c.1922-12T>G (n.1922-12T>G) c.1919-12T>G (n.1919-12T>G) | gnomAD v4 |
12 | g.65239923_65239924insACTTTGTATTTTAATAT | CA2619669563 | LEMD3 | c.1922-6_1922-5insACTTTGTATTTTAATAT (n.1922-6_1922-5insACTTTGTATTTTAATAT) c.1919-6_1919-5insACTTTGTATTTTAATAT (n.1919-6_1919-5insACTTTGTATTTTAATAT) | gnomAD v4 |
12 | g.65239919A>G | CA2619669565 | LEMD3 | c.1922-10A>G (n.1922-10A>G) c.1919-10A>G (n.1919-10A>G) | gnomAD v4 |
12 | g.65239920A>T | CA2619669566 | LEMD3 | c.1922-9A>T (n.1922-9A>T) c.1919-9A>T (n.1919-9A>T) | gnomAD v4 |
12 | g.65239922A>G | CA2575215402 | LEMD3 | c.1922-7A>G (n.1922-7A>G) c.1919-7A>G (n.1919-7A>G) | gnomAD v4 |
12 | g.65239924T>C | CA605710063 | LEMD3 | c.1922-5T>C (n.1922-5T>C) c.1919-5T>C (n.1919-5T>C) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.65239924T= | CA2042446368 | LEMD3 | c.1922-5T= (n.1922-5T=) c.1919-5T= (n.1919-5T=) | |
12 | g.65239925A>G | CA2619669567 | LEMD3 | c.1922-4A>G (n.1922-4A>G) c.1919-4A>G (n.1919-4A>G) | gnomAD v4 |
12 | g.65239925A>T | CA2619669568 | LEMD3 | c.1922-4A>T (n.1922-4A>T) c.1919-4A>T (n.1919-4A>T) | gnomAD v4 |
12 | g.65239926C>A | CA2619669569 | LEMD3 | c.1922-3C>A (n.1922-3C>A) c.1919-3C>A (n.1919-3C>A) | gnomAD v4 |
12 | g.65239927A>C | CA385671709 | LEMD3 | c.1922-2A>C (n.1922-2A>C) c.1919-2A>C (n.1919-2A>C) | |
12 | g.65239927A>G | CA385671708 | LEMD3 | c.1922-2A>G (n.1922-2A>G) c.1919-2A>G (n.1919-2A>G) | gnomAD v4 |
12 | g.65239927A>T | CA385671707 | LEMD3 | c.1922-2A>T (n.1922-2A>T) c.1919-2A>T (n.1919-2A>T) | |
12 | g.65239928G>A | CA385671713 | LEMD3 | c.1922-1G>A (n.1922-1G>A) c.1919-1G>A (n.1919-1G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.65239928G>C | CA385671710 | LEMD3 | c.1922-1G>C (n.1922-1G>C) c.1919-1G>C (n.1919-1G>C) | |
12 | g.65239928G= | CA2042446378 | LEMD3 | c.1922-1G= (n.1922-1G=) c.1919-1G= (n.1919-1G=) | |
12 | g.65239928G>T | CA385671711 | LEMD3 | c.1922-1G>T (n.1922-1G>T) c.1919-1G>T (n.1919-1G>T) | |
12 | g.65239929G>A | CA385671715 | LEMD3 | c.1922G>A (p.Gly641Asp) c.1919G>A (p.Gly640Asp) | |
12 | g.65239929G>C | CA385671716 | LEMD3 | c.1922G>C (p.Gly641Ala) c.1919G>C (p.Gly640Ala) | |
12 | g.65239929G>T | CA385671718 | LEMD3 | c.1922G>T (p.Gly641Val) c.1919G>T (p.Gly640Val) | |
12 | g.65239930T>A | CA480666205 | LEMD3 | c.1923T>A (p.Gly641=) c.1920T>A (p.Gly640=) | |
12 | g.65239930T>C | CA480666206 | LEMD3 | c.1923T>C (p.Gly641=) c.1920T>C (p.Gly640=) | dbSNP gnomAD v4 |
12 | g.65239930T>G | CA480666207 | LEMD3 | c.1923T>G (p.Gly641=) c.1920T>G (p.Gly640=) | gnomAD v4 |
12 | g.65239930T= | CA2042446383 | LEMD3 | c.1923T= (p.Gly641=) c.1920T= (p.Gly640=) | |
12 | g.65239931G>A | CA385671724 | LEMD3 | c.1924G>A (p.Val642Ile) c.1921G>A (p.Val641Ile) | dbSNP gnomAD v4 |
12 | g.65239931G>C | CA385671722 | LEMD3 | c.1924G>C (p.Val642Leu) c.1921G>C (p.Val641Leu) | |
12 | g.65239931G= | CA2042446389 | LEMD3 | c.1924G= (p.Val642=) c.1921G= (p.Val641=) | |
12 | g.65239931G>T | CA385671720 | LEMD3 | c.1924G>T (p.Val642Leu) c.1921G>T (p.Val641Leu) | |
12 | g.65239932T>A | CA385671726 | LEMD3 | c.1925T>A (p.Val642Glu) c.1922T>A (p.Val641Glu) | |
12 | g.65239932T>C | CA385671728 | LEMD3 | c.1925T>C (p.Val642Ala) c.1922T>C (p.Val641Ala) | gnomAD v4 |
12 | g.65239932T>G | CA385671730 | LEMD3 | c.1925T>G (p.Val642Gly) c.1922T>G (p.Val641Gly) | |
12 | g.65239933A= | CA2042446409 | LEMD3 | c.1926A= (p.Val642=) c.1923A= (p.Val641=) | |
12 | g.65239933A>C | CA480666208 | LEMD3 | c.1926A>C (p.Val642=) c.1923A>C (p.Val641=) | dbSNP |
12 | g.65239933A>G | CA480666209 | LEMD3 | c.1926A>G (p.Val642=) c.1923A>G (p.Val641=) | gnomAD v4 |
12 | g.65239933A>T | CA480666210 | LEMD3 | c.1926A>T (p.Val642=) c.1923A>T (p.Val641=) | |
12 | g.65239934G>A | CA385671732 | LEMD3 | c.1927G>A (p.Val643Met) c.1924G>A (p.Val642Met) | |
12 | g.65239934G>C | CA385671734 | LEMD3 | c.1927G>C (p.Val643Leu) c.1924G>C (p.Val642Leu) | |
12 | g.65239934G>T | CA385671736 | LEMD3 | c.1927G>T (p.Val643Leu) c.1924G>T (p.Val642Leu) | gnomAD v4 |
12 | g.65239935T>A | CA385671738 | LEMD3 | c.1928T>A (p.Val643Glu) c.1925T>A (p.Val642Glu) | |
12 | g.65239935T>C | CA385671742 | LEMD3 | c.1928T>C (p.Val643Ala) c.1925T>C (p.Val642Ala) | |
12 | g.65239935T>G | CA385671740 | LEMD3 | c.1928T>G (p.Val643Gly) c.1925T>G (p.Val642Gly) | |
12 | g.65239936del | CA2726559137 | LEMD3 | c.1929del (p.Met644TrpfsTer9) c.1926del (p.Met643TrpfsTer9) | dbSNP |
12 | g.65239936G>A | CA480666211 | LEMD3 | c.1929G>A (p.Val643=) c.1926G>A (p.Val642=) | |
12 | g.65239936G>C | CA480666212 | LEMD3 | c.1929G>C (p.Val643=) c.1926G>C (p.Val642=) | gnomAD v4 |
12 | g.65239936G>T | CA480666213 | LEMD3 | c.1929G>T (p.Val643=) c.1926G>T (p.Val642=) | |
12 | g.65239937A= | CA2042446428 | LEMD3 | c.1930A= (p.Met644=) c.1927A= (p.Met643=) | |
12 | g.65239937A>C | CA385671744 | LEMD3 | c.1930A>C (p.Met644Leu) c.1927A>C (p.Met643Leu) | |
12 | g.65239937A>G | CA385671746 | LEMD3 | c.1930A>G (p.Met644Val) c.1927A>G (p.Met643Val) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.65239937A>T | CA385671748 | LEMD3 | c.1930A>T (p.Met644Leu) c.1927A>T (p.Met643Leu) | |
12 | g.65239938T>A | CA385671750 | LEMD3 | c.1931T>A (p.Met644Lys) c.1928T>A (p.Met643Lys) | gnomAD v4 |
12 | g.65239938T>C | CA6671081 | LEMD3 | c.1931T>C (p.Met644Thr) c.1928T>C (p.Met643Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.65239938T>G | CA385671753 | LEMD3 | c.1931T>G (p.Met644Arg) c.1928T>G (p.Met643Arg) | |
12 | g.65239938T= | CA2042446435 | LEMD3 | c.1931T= (p.Met644=) c.1928T= (p.Met643=) | |
12 | g.65239939G>A | CA385671754 | LEMD3 | c.1932G>A (p.Met644Ile) c.1929G>A (p.Met643Ile) | |
12 | g.65239939G>C | CA385671756 | LEMD3 | c.1932G>C (p.Met644Ile) c.1929G>C (p.Met643Ile) | |
12 | g.65239939G>T | CA385671758 | LEMD3 | c.1932G>T (p.Met644Ile) c.1929G>T (p.Met643Ile) | gnomAD v4 |
12 | g.65239940G>A | CA6671082 | LEMD3 | c.1933G>A (p.Val645Ile) c.1930G>A (p.Val644Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.65239940G>C | CA385671761 | LEMD3 | c.1933G>C (p.Val645Leu) c.1930G>C (p.Val644Leu) | |
12 | g.65239940G= | CA2042446438 | LEMD3 | c.1933G= (p.Val645=) c.1930G= (p.Val644=) | |
12 | g.65239940G>T | CA385671763 | LEMD3 | c.1933G>T (p.Val645Phe) c.1930G>T (p.Val644Phe) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
12 | g.65239941T>A | CA385671768 | LEMD3 | c.1934T>A (p.Val645Asp) c.1931T>A (p.Val644Asp) | |
12 | g.65239941T>C | CA385671770 | LEMD3 | c.1934T>C (p.Val645Ala) c.1931T>C (p.Val644Ala) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.65239941T>G | CA385671766 | LEMD3 | c.1934T>G (p.Val645Gly) c.1931T>G (p.Val644Gly) | |
12 | g.65239941T= | CA2042446441 | LEMD3 | c.1934T= (p.Val645=) c.1931T= (p.Val644=) | |
12 | g.65239942T>A | CA480666216 | LEMD3 | c.1935T>A (p.Val645=) c.1932T>A (p.Val644=) | |
12 | g.65239942T>C | CA480666217 | LEMD3 | c.1935T>C (p.Val645=) c.1932T>C (p.Val644=) | |
12 | g.65239942T>G | CA480666218 | LEMD3 | c.1935T>G (p.Val645=) c.1932T>G (p.Val644=) | |
12 | g.65239943T>A | CA385671772 | LEMD3 | c.1936T>A (p.Cys646Ser) c.1933T>A (p.Cys645Ser) | |
12 | g.65239943T>C | CA385671776 | LEMD3 | c.1936T>C (p.Cys646Arg) c.1933T>C (p.Cys645Arg) | |
12 | g.65239943T>G | CA385671774 | LEMD3 | c.1936T>G (p.Cys646Gly) c.1933T>G (p.Cys645Gly) | |
12 | g.65239944G>A | CA385671778 | LEMD3 | c.1937G>A (p.Cys646Tyr) c.1934G>A (p.Cys645Tyr) | |
12 | g.65239944G>C | CA385671780 | LEMD3 | c.1937G>C (p.Cys646Ser) c.1934G>C (p.Cys645Ser) | gnomAD v4 |
12 | g.65239944G>T | CA385671782 | LEMD3 | c.1937G>T (p.Cys646Phe) c.1934G>T (p.Cys645Phe) | |
12 | g.65239945T>A | CA385671784 | LEMD3 | c.1938T>A (p.Cys646Ter) c.1935T>A (p.Cys645Ter) | |
12 | g.65239945T>C | CA480666219 | LEMD3 | c.1938T>C (p.Cys646=) c.1935T>C (p.Cys645=) | |
12 | g.65239945T>G | CA385671786 | LEMD3 | c.1938T>G (p.Cys646Trp) c.1935T>G (p.Cys645Trp) | |
12 | g.65239946G>A | CA385671787 | LEMD3 | c.1939G>A (p.Val647Ile) c.1936G>A (p.Val646Ile) | |
12 | g.65239946G>C | CA385671788 | LEMD3 | c.1939G>C (p.Val647Leu) c.1936G>C (p.Val646Leu) | |
12 | g.65239946G>T | CA385671791 | LEMD3 | c.1939G>T (p.Val647Phe) c.1936G>T (p.Val646Phe) | |
12 | g.65239947T>A | CA385671793 | LEMD3 | c.1940T>A (p.Val647Asp) c.1937T>A (p.Val646Asp) | |
12 | g.65239947T>C | CA385671795 | LEMD3 | c.1940T>C (p.Val647Ala) c.1937T>C (p.Val646Ala) | |
12 | g.65239947T>G | CA385671797 | LEMD3 | c.1940T>G (p.Val647Gly) c.1937T>G (p.Val646Gly) | |
12 | g.65239948C>A | CA480666222 | LEMD3 | c.1941C>A (p.Val647=) c.1938C>A (p.Val646=) | gnomAD v4 |
12 | g.65239948C= | CA2042446446 | LEMD3 | c.1941C= (p.Val647=) c.1938C= (p.Val646=) | |
12 | g.65239948C>G | CA6671083 | LEMD3 | c.1941C>G (p.Val647=) c.1938C>G (p.Val646=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.65239948C>T | CA480666221 | LEMD3 | c.1941C>T (p.Val647=) c.1938C>T (p.Val646=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.65239949G>A | CA385671804 | LEMD3 | c.1942G>A (p.Val648Ile) c.1939G>A (p.Val647Ile) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.65239949G>C | CA385671800 | LEMD3 | c.1942G>C (p.Val648Leu) c.1939G>C (p.Val647Leu) | |
12 | g.65239949G= | CA2042446461 | LEMD3 | c.1942G= (p.Val648=) c.1939G= (p.Val647=) | |
12 | g.65239949G>T | CA385671802 | LEMD3 | c.1942G>T (p.Val648Phe) c.1939G>T (p.Val647Phe) | |
12 | g.65239950T>A | CA385671807 | LEMD3 | c.1943T>A (p.Val648Asp) c.1940T>A (p.Val647Asp) | |
12 | g.65239950T>C | CA385671808 | LEMD3 | c.1943T>C (p.Val648Ala) c.1940T>C (p.Val647Ala) | ClinVar dbSNP |
12 | g.65239950T>G | CA385671810 | LEMD3 | c.1943T>G (p.Val648Gly) c.1940T>G (p.Val647Gly) | |
12 | g.65239950T= | CA2042446464 | LEMD3 | c.1943T= (p.Val648=) c.1940T= (p.Val647=) | |
12 | g.65239951T>A | CA480666223 | LEMD3 | c.1944T>A (p.Val648=) c.1941T>A (p.Val647=) | |
12 | g.65239951T>C | CA480666225 | LEMD3 | c.1944T>C (p.Val648=) c.1941T>C (p.Val647=) | |
12 | g.65239951T>G | CA480666224 | LEMD3 | c.1944T>G (p.Val648=) c.1941T>G (p.Val647=) | |
12 | g.65239952C>A | CA385671812 | LEMD3 | c.1945C>A (p.Leu649Met) c.1942C>A (p.Leu648Met) | |
12 | g.65239952C>G | CA385671814 | LEMD3 | c.1945C>G (p.Leu649Val) c.1942C>G (p.Leu648Val) | |
12 | g.65239952C>T | CA480666227 | LEMD3 | c.1945C>T (p.Leu649=) c.1942C>T (p.Leu648=) | gnomAD v4 |
12 | g.65239952dup | CA2619669570 | LEMD3 | c.1945dup (p.Leu649ProfsTer20) c.1942dup (p.Leu648ProfsTer20) | gnomAD v4 |
12 | g.65239953T>A | CA385671817 | LEMD3 | c.1946T>A (p.Leu649Gln) c.1943T>A (p.Leu648Gln) | |
12 | g.65239953T>C | CA385671818 | LEMD3 | c.1946T>C (p.Leu649Pro) c.1943T>C (p.Leu648Pro) | |
12 | g.65239953T>G | CA385671820 | LEMD3 | c.1946T>G (p.Leu649Arg) c.1943T>G (p.Leu648Arg) | |
12 | g.65239954G>A | CA480666228 | LEMD3 | c.1947G>A (p.Leu649=) c.1944G>A (p.Leu648=) | COSMIC |
12 | g.65239954G>C | CA480666229 | LEMD3 | c.1947G>C (p.Leu649=) c.1944G>C (p.Leu648=) | |
12 | g.65239954G>T | CA480666230 | LEMD3 | c.1947G>T (p.Leu649=) c.1944G>T (p.Leu648=) | |
12 | g.65239955C>A | CA238915173 | LEMD3 | c.1948C>A (p.Arg650Ser) c.1945C>A (p.Arg649Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
12 | g.65239955C= | CA2042446469 | LEMD3 | c.1948C= (p.Arg650=) c.1945C= (p.Arg649=) | |
12 | g.65239955C>G | CA385671823 | LEMD3 | c.1948C>G (p.Arg650Gly) c.1945C>G (p.Arg649Gly) | ClinVar |
12 | g.65239955C>T | CA385671825 | LEMD3 | c.1948C>T (p.Arg650Cys) c.1945C>T (p.Arg649Cys) | gnomAD v4 |
12 | g.65239956G>A | CA6671084 | LEMD3 | c.1949G>A (p.Arg650His) c.1946G>A (p.Arg649His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.65239956G>C | CA385671828 | LEMD3 | c.1949G>C (p.Arg650Pro) c.1946G>C (p.Arg649Pro) | |
12 | g.65239956G= | CA2042446472 | LEMD3 | c.1949G= (p.Arg650=) c.1946G= (p.Arg649=) | |
12 | g.65239956G>T | CA385671827 | LEMD3 | c.1949G>T (p.Arg650Leu) c.1946G>T (p.Arg649Leu) | |
12 | g.65239957T>A | CA480666231 | LEMD3 | c.1950T>A (p.Arg650=) c.1947T>A (p.Arg649=) | |
12 | g.65239957T>C | CA480666232 | LEMD3 | c.1950T>C (p.Arg650=) c.1947T>C (p.Arg649=) | |
12 | g.65239957T>G | CA480666233 | LEMD3 | c.1950T>G (p.Arg650=) c.1947T>G (p.Arg649=) | |
12 | g.65239958T>A | CA385671830 | LEMD3 | c.1951T>A (p.Tyr651Asn) c.1948T>A (p.Tyr650Asn) | |
12 | g.65239958T>C | CA385671832 | LEMD3 | c.1951T>C (p.Tyr651His) c.1948T>C (p.Tyr650His) | |
12 | g.65239958T>G | CA6671085 | LEMD3 | c.1951T>G (p.Tyr651Asp) c.1948T>G (p.Tyr650Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.65239958T= | CA2042446478 | LEMD3 | c.1951T= (p.Tyr651=) c.1948T= (p.Tyr650=) | |
12 | g.65239959A>C | CA385671835 | LEMD3 | c.1952A>C (p.Tyr651Ser) c.1949A>C (p.Tyr650Ser) | |
12 | g.65239959A>G | CA385671837 | LEMD3 | c.1952A>G (p.Tyr651Cys) c.1949A>G (p.Tyr650Cys) | |
12 | g.65239959A>T | CA385671839 | LEMD3 | c.1952A>T (p.Tyr651Phe) c.1949A>T (p.Tyr650Phe) | |
12 | g.65239960del | CA2575215403 | LEMD3 | c.1953del (p.Tyr651Ter) c.1950del (p.Tyr650Ter) | gnomAD v4 |
12 | g.65239960C>A | CA385671843 | LEMD3 | c.1953C>A (p.Tyr651Ter) c.1950C>A (p.Tyr650Ter) | |
12 | g.65239960C>G | CA385671841 | LEMD3 | c.1953C>G (p.Tyr651Ter) c.1950C>G (p.Tyr650Ter) | |
12 | g.65239960C>T | CA480666234 | LEMD3 | c.1953C>T (p.Tyr651=) c.1950C>T (p.Tyr650=) | gnomAD v4 |
12 | g.65239961A= | CA2042446487 | LEMD3 | c.1954A= (p.Met652=) c.1951A= (p.Met651=) | |
12 | g.65239961A>C | CA385671845 | LEMD3 | c.1954A>C (p.Met652Leu) c.1951A>C (p.Met651Leu) | |
12 | g.65239961A>G | CA385671846 | LEMD3 | c.1954A>G (p.Met652Val) c.1951A>G (p.Met651Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
12 | g.65239961A>T | CA385671848 | LEMD3 | c.1954A>T (p.Met652Leu) c.1951A>T (p.Met651Leu) | |
12 | g.65239962T>A | CA385671850 | LEMD3 | c.1955T>A (p.Met652Lys) c.1952T>A (p.Met651Lys) | |
12 | g.65239962T>C | CA385671852 | LEMD3 | c.1955T>C (p.Met652Thr) c.1952T>C (p.Met651Thr) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.65239962T>G | CA385671854 | LEMD3 | c.1955T>G (p.Met652Arg) c.1952T>G (p.Met651Arg) | gnomAD v4 |
12 | g.65239962T= | CA2042446493 | LEMD3 | c.1955T= (p.Met652=) c.1952T= (p.Met651=) | |
12 | g.65239963G>A | CA6671086 | LEMD3 | c.1956G>A (p.Met652Ile) c.1953G>A (p.Met651Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.65239963G>C | CA385671859 | LEMD3 | c.1956G>C (p.Met652Ile) c.1953G>C (p.Met651Ile) | |
12 | g.65239963G= | CA2042446497 | LEMD3 | c.1956G= (p.Met652=) c.1953G= (p.Met651=) | |
12 | g.65239963G>T | CA385671857 | LEMD3 | c.1956G>T (p.Met652Ile) c.1953G>T (p.Met651Ile) | |
12 | g.65239964A>C | CA385671861 | LEMD3 | c.1957A>C (p.Lys653Gln) c.1954A>C (p.Lys652Gln) | |
12 | g.65239964A>G | CA385671862 | LEMD3 | c.1957A>G (p.Lys653Glu) c.1954A>G (p.Lys652Glu) | |
12 | g.65239964A>T | CA385671864 | LEMD3 | c.1957A>T (p.Lys653Ter) c.1954A>T (p.Lys652Ter) | |
12 | g.65239965A>C | CA385671865 | LEMD3 | c.1958A>C (p.Lys653Thr) c.1955A>C (p.Lys652Thr) | dbSNP |
12 | g.65239965A>G | CA385671866 | LEMD3 | c.1958A>G (p.Lys653Arg) c.1955A>G (p.Lys652Arg) | |
12 | g.65239965A>T | CA385671868 | LEMD3 | c.1958A>T (p.Lys653Ile) c.1955A>T (p.Lys652Ile) | |
12 | g.65239966A= | CA2042446511 | LEMD3 | c.1959A= (p.Lys653=) c.1956A= (p.Lys652=) | |
12 | g.65239966A>C | CA385671870 | LEMD3 | c.1959A>C (p.Lys653Asn) c.1956A>C (p.Lys652Asn) | |
12 | g.65239966A>G | CA480666237 | LEMD3 | c.1959A>G (p.Lys653=) c.1956A>G (p.Lys652=) | dbSNP |
12 | g.65239966A>T | CA385671871 | LEMD3 | c.1959A>T (p.Lys653Asn) c.1956A>T (p.Lys652Asn) | |
12 | g.65239967T>A | CA385671874 | LEMD3 | c.1960T>A (p.Tyr654Asn) c.1957T>A (p.Tyr653Asn) | |
12 | g.65239967T>C | CA385671875 | LEMD3 | c.1960T>C (p.Tyr654His) c.1957T>C (p.Tyr653His) | |
12 | g.65239967T>G | CA385671876 | LEMD3 | c.1960T>G (p.Tyr654Asp) c.1957T>G (p.Tyr653Asp) | |
12 | g.65239968A>C | CA385671880 | LEMD3 | c.1961A>C (p.Tyr654Ser) c.1958A>C (p.Tyr653Ser) | |
12 | g.65239968A>G | CA385671882 | LEMD3 | c.1961A>G (p.Tyr654Cys) c.1958A>G (p.Tyr653Cys) | |
12 | g.65239968A>T | CA385671878 | LEMD3 | c.1961A>T (p.Tyr654Phe) c.1958A>T (p.Tyr653Phe) | |
12 | g.65239969T>A | CA385671887 | LEMD3 | c.1962T>A (p.Tyr654Ter) c.1959T>A (p.Tyr653Ter) | |
12 | g.65239969T>C | CA480666238 | LEMD3 | c.1962T>C (p.Tyr654=) c.1959T>C (p.Tyr653=) | gnomAD v4 |
12 | g.65239969T>G | CA385671885 | LEMD3 | c.1962T>G (p.Tyr654Ter) c.1959T>G (p.Tyr653Ter) | |
12 | g.65239970C>A | CA480666239 | LEMD3 | c.1963C>A (p.Arg655=) c.1960C>A (p.Arg654=) | |
12 | g.65239970C= | CA2042446523 | LEMD3 | c.1963C= (p.Arg655=) c.1960C= (p.Arg654=) | |
12 | g.65239970C>G | CA385671889 | LEMD3 | c.1963C>G (p.Arg655Gly) c.1960C>G (p.Arg654Gly) | |
12 | g.65239970C>T | CA115738 | LEMD3 | c.1963C>T (p.Arg655Ter) c.1960C>T (p.Arg654Ter) | ClinVar dbSNP gnomAD v4 |
12 | g.65239971G>A | CA6671087 | LEMD3 | c.1964G>A (p.Arg655Gln) c.1961G>A (p.Arg654Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.65239971G>C | CA385671892 | LEMD3 | c.1964G>C (p.Arg655Pro) c.1961G>C (p.Arg654Pro) | |
12 | g.65239971G= | CA2042446534 | LEMD3 | c.1964G= (p.Arg655=) c.1961G= (p.Arg654=) | |
12 | g.65239971G>T | CA385671894 | LEMD3 | c.1964G>T (p.Arg655Leu) c.1961G>T (p.Arg654Leu) | |
12 | g.65239972A>C | CA480666240 | LEMD3 | c.1965A>C (p.Arg655=) c.1962A>C (p.Arg654=) | |
12 | g.65239972A>G | CA480666241 | LEMD3 | c.1965A>G (p.Arg655=) c.1962A>G (p.Arg654=) | gnomAD v4 |
12 | g.65239972A>T | CA480666242 | LEMD3 | c.1965A>T (p.Arg655=) c.1962A>T (p.Arg654=) | |
12 | g.65239973T>A | CA385671896 | LEMD3 | c.1966T>A (p.Trp656Arg) c.1963T>A (p.Trp655Arg) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.65239973T>C | CA385671900 | LEMD3 | c.1966T>C (p.Trp656Arg) c.1963T>C (p.Trp655Arg) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.65239973T>G | CA385671898 | LEMD3 | c.1966T>G (p.Trp656Gly) c.1963T>G (p.Trp655Gly) | |
12 | g.65239973T= | CA2042446540 | LEMD3 | c.1966T= (p.Trp656=) c.1963T= (p.Trp655=) | |
12 | g.65239974G>A | CA385671902 | LEMD3 | c.1967G>A (p.Trp656Ter) c.1964G>A (p.Trp655Ter) | |
12 | g.65239974G>C | CA385671903 | LEMD3 | c.1967G>C (p.Trp656Ser) c.1964G>C (p.Trp655Ser) | |
12 | g.65239974G>T | CA385671904 | LEMD3 | c.1967G>T (p.Trp656Leu) c.1964G>T (p.Trp655Leu) | |
12 | g.65239975del | CA2575215404 | LEMD3 | c.1968del (p.Trp656Ter) c.1965del (p.Trp655Ter) | |
12 | g.65239975G>A | CA385671907 | LEMD3 | c.1968G>A (p.Trp656Ter) c.1965G>A (p.Trp655Ter) | |
12 | g.65239975G>C | CA385671909 | LEMD3 | c.1968G>C (p.Trp656Cys) c.1965G>C (p.Trp655Cys) | |
12 | g.65239975G>T | CA385671910 | LEMD3 | c.1968G>T (p.Trp656Cys) c.1965G>T (p.Trp655Cys) | |
12 | g.65239976A>C | CA385671914 | LEMD3 | c.1969A>C (p.Thr657Pro) c.1966A>C (p.Thr656Pro) | |
12 | g.65239976A>G | CA385671913 | LEMD3 | c.1969A>G (p.Thr657Ala) c.1966A>G (p.Thr656Ala) | |
12 | g.65239976A>T | CA385671912 | LEMD3 | c.1969A>T (p.Thr657Ser) c.1966A>T (p.Thr656Ser) | |
12 | g.65239977C>A | CA385671916 | LEMD3 | c.1970C>A (p.Thr657Lys) c.1967C>A (p.Thr656Lys) | dbSNP gnomAD v4 |
12 | g.65239977C= | CA2042446544 | LEMD3 | c.1970C= (p.Thr657=) c.1967C= (p.Thr656=) | |
12 | g.65239977C>G | CA385671918 | LEMD3 | c.1970C>G (p.Thr657Arg) c.1967C>G (p.Thr656Arg) | |
12 | g.65239977C>T | CA385671919 | LEMD3 | c.1970C>T (p.Thr657Ile) c.1967C>T (p.Thr656Ile) | |
12 | g.65239978A= | CA2042446552 | LEMD3 | c.1971A= (p.Thr657=) c.1968A= (p.Thr656=) | |
12 | g.65239978A>C | CA480666243 | LEMD3 | c.1971A>C (p.Thr657=) c.1968A>C (p.Thr656=) | |
12 | g.65239978A>G | CA480666246 | LEMD3 | c.1971A>G (p.Thr657=) c.1968A>G (p.Thr656=) | dbSNP |
12 | g.65239978A>T | CA480666244 | LEMD3 | c.1971A>T (p.Thr657=) c.1968A>T (p.Thr656=) | |
12 | g.65239979_65239981del | CA2619669571 | LEMD3 | c.1972_1974del (p.Lys658del) c.1969_1971del (p.Lys657del) | gnomAD v4 |
12 | g.65239979A>C | CA385671921 | LEMD3 | c.1972A>C (p.Lys658Gln) c.1969A>C (p.Lys657Gln) | |
12 | g.65239979A>G | CA385671923 | LEMD3 | c.1972A>G (p.Lys658Glu) c.1969A>G (p.Lys657Glu) | |
12 | g.65239979A>T | CA385671924 | LEMD3 | c.1972A>T (p.Lys658Ter) c.1969A>T (p.Lys657Ter) | |
12 | g.65239979_65239982delinsAAAG | CA2042446559 | LEMD3 | c.1972_1975delinsAAAG (p.Lys658=) c.1969_1972delinsAAAG (p.Lys657=) | |
12 | g.65239980A>C | CA385671930 | LEMD3 | c.1973A>C (p.Lys658Thr) c.1970A>C (p.Lys657Thr) | COSMIC |
12 | g.65239980A>G | CA385671927 | LEMD3 | c.1973A>G (p.Lys658Arg) c.1970A>G (p.Lys657Arg) | |
12 | g.65239980A>T | CA385671929 | LEMD3 | c.1973A>T (p.Lys658Ile) c.1970A>T (p.Lys657Ile) | |
12 | g.65239984_65239986del | CA691028971 | LEMD3 | c.1977_1979del (p.Glu660del) c.1974_1976del (p.Glu659del) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.65239981A>C | CA385671932 | LEMD3 | c.1974A>C (p.Lys658Asn) c.1971A>C (p.Lys657Asn) | |
12 | g.65239981A>G | CA480666247 | LEMD3 | c.1974A>G (p.Lys658=) c.1971A>G (p.Lys657=) | |
12 | g.65239981A>T | CA385671933 | LEMD3 | c.1974A>T (p.Lys658Asn) c.1971A>T (p.Lys657Asn) | |
12 | g.65239982G>A | CA385671936 | LEMD3 | c.1975G>A (p.Glu659Lys) c.1972G>A (p.Glu658Lys) | |
12 | g.65239982G>C | CA385671937 | LEMD3 | c.1975G>C (p.Glu659Gln) c.1972G>C (p.Glu658Gln) | |
12 | g.65239982G>T | CA385671939 | LEMD3 | c.1975G>T (p.Glu659Ter) c.1972G>T (p.Glu658Ter) | |
12 | g.65239983A>C | CA385671941 | LEMD3 | c.1976A>C (p.Glu659Ala) c.1973A>C (p.Glu658Ala) | |
12 | g.65239983A>G | CA385671943 | LEMD3 | c.1976A>G (p.Glu659Gly) c.1973A>G (p.Glu658Gly) | |
12 | g.65239983A>T | CA385671946 | LEMD3 | c.1976A>T (p.Glu659Val) c.1973A>T (p.Glu658Val) | |
12 | g.65239984del | CA2575215405 | LEMD3 | c.1977del (p.Glu660ArgfsTer12) c.1974del (p.Glu659ArgfsTer12) | |
12 | g.65239984A= | CA2042446566 | LEMD3 | c.1977A= (p.Glu659=) c.1974A= (p.Glu658=) | |
12 | g.65239984A>C | CA238915174 | LEMD3 | c.1977A>C (p.Glu659Asp) c.1974A>C (p.Glu658Asp) | dbSNP gnomAD v4 |
12 | g.65239984A>G | CA480666248 | LEMD3 | c.1977A>G (p.Glu659=) c.1974A>G (p.Glu658=) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.65239984A>T | CA385671948 | LEMD3 | c.1977A>T (p.Glu659Asp) c.1974A>T (p.Glu658Asp) | |
12 | g.65239985G>A | CA385671951 | LEMD3 | c.1978G>A (p.Glu660Lys) c.1975G>A (p.Glu659Lys) | |
12 | g.65239985G>C | CA385671952 | LEMD3 | c.1978G>C (p.Glu660Gln) c.1975G>C (p.Glu659Gln) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.65239985G= | CA2042446571 | LEMD3 | c.1978G= (p.Glu660=) c.1975G= (p.Glu659=) | |
12 | g.65239985G>T | CA385671954 | LEMD3 | c.1978G>T (p.Glu660Ter) c.1975G>T (p.Glu659Ter) | dbSNP |
12 | g.65239986A>C | CA385671956 | LEMD3 | c.1979A>C (p.Glu660Ala) c.1976A>C (p.Glu659Ala) | |
12 | g.65239986A>G | CA385671960 | LEMD3 | c.1979A>G (p.Glu660Gly) c.1976A>G (p.Glu659Gly) | |
12 | g.65239986A>T | CA385671958 | LEMD3 | c.1979A>T (p.Glu660Val) c.1976A>T (p.Glu659Val) | |
12 | g.65239987G>A | CA6671088 | LEMD3 | c.1980G>A (p.Glu660=) c.1977G>A (p.Glu659=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
12 | g.65239987G>C | CA385671963 | LEMD3 | c.1980G>C (p.Glu660Asp) c.1977G>C (p.Glu659Asp) | gnomAD v4 |
12 | g.65239987G= | CA2042446576 | LEMD3 | c.1980G= (p.Glu660=) c.1977G= (p.Glu659=) | |
12 | g.65239987G>T | CA385671965 | LEMD3 | c.1980G>T (p.Glu660Asp) c.1977G>T (p.Glu659Asp) | |
12 | g.65239988G>A | CA238915175 | LEMD3 | c.1981G>A (p.Glu661Lys) c.1978G>A (p.Glu660Lys) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.65239988G>C | CA385671968 | LEMD3 | c.1981G>C (p.Glu661Gln) c.1978G>C (p.Glu660Gln) | |
12 | g.65239988G= | CA2042446589 | LEMD3 | c.1981G= (p.Glu661=) c.1978G= (p.Glu660=) | |
12 | g.65239988G>T | CA385671970 | LEMD3 | c.1981G>T (p.Glu661Ter) c.1978G>T (p.Glu660Ter) | |
12 | g.65239989A= | CA2042446594 | LEMD3 | c.1982A= (p.Glu661=) c.1979A= (p.Glu660=) | |
12 | g.65239989A>C | CA385671975 | LEMD3 | c.1982A>C (p.Glu661Ala) c.1979A>C (p.Glu660Ala) | dbSNP |
12 | g.65239989A>G | CA385671971 | LEMD3 | c.1982A>G (p.Glu661Gly) c.1979A>G (p.Glu660Gly) | ClinVar |
12 | g.65239989A>T | CA385671973 | LEMD3 | c.1982A>T (p.Glu661Val) c.1979A>T (p.Glu660Val) |