Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.746006C>ACA397505828GEMIN4c.2037G>T (p.Glu679Asp)
c.2004G>T (p.Glu668Asp)
c.2049G>T (p.Glu683Asp)
17g.746006C=CA2242474526GEMIN4c.2037G= (p.Glu679=)
c.2004G= (p.Glu668=)
c.2049G= (p.Glu683=)
17g.746006C>GCA397505829GEMIN4c.2037G>C (p.Glu679Asp)
c.2004G>C (p.Glu668Asp)
c.2049G>C (p.Glu683Asp)
17g.746006C>TCA286713671GEMIN4c.2037G>A (p.Glu679=)
c.2004G>A (p.Glu668=)
c.2049G>A (p.Glu683=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.746007T>ACA397505830GEMIN4c.2036A>T (p.Glu679Val)
c.2003A>T (p.Glu668Val)
c.2048A>T (p.Glu683Val)
17g.746007T>CCA397505831GEMIN4c.2036A>G (p.Glu679Gly)
c.2003A>G (p.Glu668Gly)
c.2048A>G (p.Glu683Gly)
 gnomAD v4
17g.746007T>GCA397505832GEMIN4c.2036A>C (p.Glu679Ala)
c.2003A>C (p.Glu668Ala)
c.2048A>C (p.Glu683Ala)
17g.746008C>ACA397505835GEMIN4c.2035G>T (p.Glu679Ter)
c.2002G>T (p.Glu668Ter)
c.2047G>T (p.Glu683Ter)
17g.746008C>GCA397505834GEMIN4c.2035G>C (p.Glu679Gln)
c.2002G>C (p.Glu668Gln)
c.2047G>C (p.Glu683Gln)
17g.746008C>TCA397505833GEMIN4c.2035G>A (p.Glu679Lys)
c.2002G>A (p.Glu668Lys)
c.2047G>A (p.Glu683Lys)
17g.746009T>ACA497383970GEMIN4c.2034A>T (p.Leu678=)
c.2001A>T (p.Leu667=)
c.2046A>T (p.Leu682=)
17g.746009T>CCA497383971GEMIN4c.2034A>G (p.Leu678=)
c.2001A>G (p.Leu667=)
c.2046A>G (p.Leu682=)
17g.746009T>GCA497383973GEMIN4c.2034A>C (p.Leu678=)
c.2001A>C (p.Leu667=)
c.2046A>C (p.Leu682=)
17g.746010A=CA2242474527GEMIN4c.2033T= (p.Leu678=)
c.2000T= (p.Leu667=)
c.2045T= (p.Leu682=)
17g.746010A>CCA397505836GEMIN4c.2033T>G (p.Leu678Arg)
c.2000T>G (p.Leu667Arg)
c.2045T>G (p.Leu682Arg)
17g.746010A>GCA8262503GEMIN4c.2033T>C (p.Leu678Pro)
c.2000T>C (p.Leu667Pro)
c.2045T>C (p.Leu682Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.746010A>TCA397505837GEMIN4c.2033T>A (p.Leu678Gln)
c.2000T>A (p.Leu667Gln)
c.2045T>A (p.Leu682Gln)
17g.746011G>ACA497383979GEMIN4c.2032C>T (p.Leu678=)
c.1999C>T (p.Leu667=)
c.2044C>T (p.Leu682=)
17g.746011G>CCA397505838GEMIN4c.2032C>G (p.Leu678Val)
c.1999C>G (p.Leu667Val)
c.2044C>G (p.Leu682Val)
17g.746011G>TCA397505839GEMIN4c.2032C>A (p.Leu678Ile)
c.1999C>A (p.Leu667Ile)
c.2044C>A (p.Leu682Ile)
 gnomAD v4
17g.746012A=CA2242474528GEMIN4c.2031T= (p.Thr677=)
c.1998T= (p.Thr666=)
c.2043T= (p.Thr681=)
17g.746012A>CCA8262504GEMIN4c.2031T>G (p.Thr677=)
c.1998T>G (p.Thr666=)
c.2043T>G (p.Thr681=)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.746012A>GCA497383982GEMIN4c.2031T>C (p.Thr677=)
c.1998T>C (p.Thr666=)
c.2043T>C (p.Thr681=)
17g.746012A>TCA497383983GEMIN4c.2031T>A (p.Thr677=)
c.1998T>A (p.Thr666=)
c.2043T>A (p.Thr681=)
17g.746013G>ACA8262505GEMIN4c.2030C>T (p.Thr677Ile)
c.1997C>T (p.Thr666Ile)
c.2042C>T (p.Thr681Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.746013G>CCA397505840GEMIN4c.2030C>G (p.Thr677Ser)
c.1997C>G (p.Thr666Ser)
c.2042C>G (p.Thr681Ser)
 dbSNP gnomAD v2 gnomAD v4
17g.746013G=CA2242474529GEMIN4c.2030C= (p.Thr677=)
c.1997C= (p.Thr666=)
c.2042C= (p.Thr681=)
17g.746013G>TCA397505841GEMIN4c.2030C>A (p.Thr677Asn)
c.1997C>A (p.Thr666Asn)
c.2042C>A (p.Thr681Asn)
17g.746014T>ACA397505842GEMIN4c.2029A>T (p.Thr677Ser)
c.1996A>T (p.Thr666Ser)
c.2041A>T (p.Thr681Ser)
17g.746014T>CCA397505843GEMIN4c.2029A>G (p.Thr677Ala)
c.1996A>G (p.Thr666Ala)
c.2041A>G (p.Thr681Ala)
17g.746014T>GCA397505844GEMIN4c.2029A>C (p.Thr677Pro)
c.1996A>C (p.Thr666Pro)
c.2041A>C (p.Thr681Pro)
 gnomAD v3 gnomAD v4
17g.746015C>ACA397505845GEMIN4c.2028G>T (p.Gln676His)
c.1995G>T (p.Gln665His)
c.2040G>T (p.Gln680His)
17g.746015C=CA2242474530GEMIN4c.2028G= (p.Gln676=)
c.1995G= (p.Gln665=)
c.2040G= (p.Gln680=)
17g.746015C>GCA8262506GEMIN4c.2028G>C (p.Gln676His)
c.1995G>C (p.Gln665His)
c.2040G>C (p.Gln680His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.746015C>TCA497383990GEMIN4c.2028G>A (p.Gln676=)
c.1995G>A (p.Gln665=)
c.2040G>A (p.Gln680=)
17g.746016T>ACA397505846GEMIN4c.2027A>T (p.Gln676Leu)
c.1994A>T (p.Gln665Leu)
c.2039A>T (p.Gln680Leu)
17g.746016T>CCA397505847GEMIN4c.2027A>G (p.Gln676Arg)
c.1994A>G (p.Gln665Arg)
c.2039A>G (p.Gln680Arg)
17g.746016T>GCA397505848GEMIN4c.2027A>C (p.Gln676Pro)
c.1994A>C (p.Gln665Pro)
c.2039A>C (p.Gln680Pro)
17g.746017G>ACA397505849GEMIN4c.2026C>T (p.Gln676Ter)
c.1993C>T (p.Gln665Ter)
c.2038C>T (p.Gln680Ter)
 dbSNP gnomAD v2 gnomAD v4
17g.746017G>CCA397505850GEMIN4c.2026C>G (p.Gln676Glu)
c.1993C>G (p.Gln665Glu)
c.2038C>G (p.Gln680Glu)
 gnomAD v4
17g.746017G=CA2242474531GEMIN4c.2026C= (p.Gln676=)
c.1993C= (p.Gln665=)
c.2038C= (p.Gln680=)
17g.746017G>TCA397505851GEMIN4c.2026C>A (p.Gln676Lys)
c.1993C>A (p.Gln665Lys)
c.2038C>A (p.Gln680Lys)
17g.746018G>ACA497383997GEMIN4c.2025C>T (p.Ile675=)
c.1992C>T (p.Ile664=)
c.2037C>T (p.Ile679=)
17g.746018G>CCA397505852GEMIN4c.2025C>G (p.Ile675Met)
c.1992C>G (p.Ile664Met)
c.2037C>G (p.Ile679Met)
17g.746018G>TCA497383998GEMIN4c.2025C>A (p.Ile675=)
c.1992C>A (p.Ile664=)
c.2037C>A (p.Ile679=)
17g.746019A=CA2242474532GEMIN4c.2024T= (p.Ile675=)
c.1991T= (p.Ile664=)
c.2036T= (p.Ile679=)
17g.746019A>CCA286713672GEMIN4c.2024T>G (p.Ile675Ser)
c.1991T>G (p.Ile664Ser)
c.2036T>G (p.Ile679Ser)
 dbSNP
17g.746019A>GCA397505853GEMIN4c.2024T>C (p.Ile675Thr)
c.1991T>C (p.Ile664Thr)
c.2036T>C (p.Ile679Thr)
 dbSNP
17g.746019A>TCA397505854GEMIN4c.2024T>A (p.Ile675Asn)
c.1991T>A (p.Ile664Asn)
c.2036T>A (p.Ile679Asn)
17g.746020T>ACA397505855GEMIN4c.2023A>T (p.Ile675Phe)
c.1990A>T (p.Ile664Phe)
c.2035A>T (p.Ile679Phe)

Number of alleles fetched