Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.51789212T>CCA2618843194SCN8Ac.4282-69T>C (n.4282-69T>C)
c.2346-69T>C
c.4159-69T>C (n.4159-69T>C)
c.4315-69T>C (n.4315-69T>C)
 gnomAD v4
12g.51789213G>TCA2618843196SCN8Ac.4282-68G>T (n.4282-68G>T)
c.2346-68G>T
c.4159-68G>T (n.4159-68G>T)
c.4315-68G>T (n.4315-68G>T)
 gnomAD v4
12g.51789214A>CCA2618843199SCN8Ac.4282-67A>C (n.4282-67A>C)
c.2346-67A>C
c.4159-67A>C (n.4159-67A>C)
c.4315-67A>C (n.4315-67A>C)
 gnomAD v4
12g.51789214A>GCA2618843202SCN8Ac.4282-67A>G (n.4282-67A>G)
c.2346-67A>G
c.4159-67A>G (n.4159-67A>G)
c.4315-67A>G (n.4315-67A>G)
 gnomAD v4
12g.51789214A>TCA2575160442SCN8Ac.4282-67A>T (n.4282-67A>T)
c.2346-67A>T
c.4159-67A>T (n.4159-67A>T)
c.4315-67A>T (n.4315-67A>T)
12g.51789217G>TCA654740258SCN8Ac.4282-64G>T (n.4282-64G>T)
c.2346-64G>T
c.4159-64G>T (n.4159-64G>T)
c.4315-64G>T (n.4315-64G>T)
 gnomAD v4 COSMIC
12g.51789218C>GCA2618843213SCN8Ac.4282-63C>G (n.4282-63C>G)
c.2346-63C>G
c.4159-63C>G (n.4159-63C>G)
c.4315-63C>G (n.4315-63C>G)
 gnomAD v4
12g.51789218C>TCA2618843210SCN8Ac.4282-63C>T (n.4282-63C>T)
c.2346-63C>T
c.4159-63C>T (n.4159-63C>T)
c.4315-63C>T (n.4315-63C>T)
 gnomAD v4
12g.51789219C>ACA2618843222SCN8Ac.4282-62C>A (n.4282-62C>A)
c.2346-62C>A
c.4159-62C>A (n.4159-62C>A)
c.4315-62C>A (n.4315-62C>A)
 gnomAD v4
12g.51789219C>TCA2575160443SCN8Ac.4282-62C>T (n.4282-62C>T)
c.2346-62C>T
c.4159-62C>T (n.4159-62C>T)
c.4315-62C>T (n.4315-62C>T)
 gnomAD v4
12g.51789220T>CCA236329304SCN8Ac.4282-61T>C (n.4282-61T>C)
c.2346-61T>C
c.4159-61T>C (n.4159-61T>C)
c.4315-61T>C (n.4315-61T>C)
 dbSNP
12g.51789220T=CA2036172094SCN8Ac.4282-61T= (n.4282-61T=)
c.2346-61T=
c.4159-61T= (n.4159-61T=)
c.4315-61T= (n.4315-61T=)
12g.51789221T>CCA605052691SCN8Ac.4282-60T>C (n.4282-60T>C)
c.2346-60T>C
c.4159-60T>C (n.4159-60T>C)
c.4315-60T>C (n.4315-60T>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.51789221T=CA2036172098SCN8Ac.4282-60T= (n.4282-60T=)
c.2346-60T=
c.4159-60T= (n.4159-60T=)
c.4315-60T= (n.4315-60T=)
12g.51789222G>ACA689793526SCN8Ac.4282-59G>A (n.4282-59G>A)
c.2346-59G>A
c.4159-59G>A (n.4159-59G>A)
c.4315-59G>A (n.4315-59G>A)
 dbSNP gnomAD v4
12g.51789222G=CA2036172101SCN8Ac.4282-59G= (n.4282-59G=)
c.2346-59G=
c.4159-59G= (n.4159-59G=)
c.4315-59G= (n.4315-59G=)
12g.51789222G>TCA2618843229SCN8Ac.4282-59G>T (n.4282-59G>T)
c.2346-59G>T
c.4159-59G>T (n.4159-59G>T)
c.4315-59G>T (n.4315-59G>T)
 gnomAD v4
12g.51789223dupCA2618843226SCN8Ac.4282-58dup (n.4282-58dup)
c.2346-58dup
c.4159-58dup (n.4159-58dup)
c.4315-58dup (n.4315-58dup)
 gnomAD v4
12g.51789223G>TCA2618843234SCN8Ac.4282-58G>T (n.4282-58G>T)
c.2346-58G>T
c.4159-58G>T (n.4159-58G>T)
c.4315-58G>T (n.4315-58G>T)
 gnomAD v4
12g.51789224C>ACA236329307SCN8Ac.4282-57C>A (n.4282-57C>A)
c.2346-57C>A
c.4159-57C>A (n.4159-57C>A)
c.4315-57C>A (n.4315-57C>A)
 dbSNP gnomAD v4
12g.51789224C=CA2036172103SCN8Ac.4282-57C= (n.4282-57C=)
c.2346-57C=
c.4159-57C= (n.4159-57C=)
c.4315-57C= (n.4315-57C=)
12g.51789224C>TCA689793537SCN8Ac.4282-57C>T (n.4282-57C>T)
c.2346-57C>T
c.4159-57C>T (n.4159-57C>T)
c.4315-57C>T (n.4315-57C>T)
 dbSNP gnomAD v3 gnomAD v4
12g.51789225G>ACA236329311SCN8Ac.4282-56G>A (n.4282-56G>A)
c.2346-56G>A
c.4159-56G>A (n.4159-56G>A)
c.4315-56G>A (n.4315-56G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.51789225G>CCA2036172106SCN8Ac.4282-56G>C (n.4282-56G>C)
c.2346-56G>C
c.4159-56G>C (n.4159-56G>C)
c.4315-56G>C (n.4315-56G>C)
 dbSNP gnomAD v4
12g.51789225G=CA2036172105SCN8Ac.4282-56G= (n.4282-56G=)
c.2346-56G=
c.4159-56G= (n.4159-56G=)
c.4315-56G= (n.4315-56G=)
12g.51789225G>TCA2618843245SCN8Ac.4282-56G>T (n.4282-56G>T)
c.2346-56G>T
c.4159-56G>T (n.4159-56G>T)
c.4315-56G>T (n.4315-56G>T)
 gnomAD v4
12g.51789227G>CCA2618843250SCN8Ac.4282-54G>C (n.4282-54G>C)
c.2346-54G>C
c.4159-54G>C (n.4159-54G>C)
c.4315-54G>C (n.4315-54G>C)
 gnomAD v4
12g.51789229C>ACA2618843252SCN8Ac.4282-52C>A (n.4282-52C>A)
c.2346-52C>A
c.4159-52C>A (n.4159-52C>A)
c.4315-52C>A (n.4315-52C>A)
 gnomAD v4
12g.51789229C>GCA2618843255SCN8Ac.4282-52C>G (n.4282-52C>G)
c.2346-52C>G
c.4159-52C>G (n.4159-52C>G)
c.4315-52C>G (n.4315-52C>G)
 gnomAD v4
12g.51789230_51789231insGACA2618843260SCN8Ac.4282-51_4282-50insGA (n.4282-51_4282-50insGA)
c.2346-51_2346-50insGA
c.4159-51_4159-50insGA (n.4159-51_4159-50insGA)
c.4315-51_4315-50insGA (n.4315-51_4315-50insGA)
 gnomAD v4
12g.51789231A=CA2036172108SCN8Ac.4282-50A= (n.4282-50A=)
c.2346-50A=
c.4159-50A= (n.4159-50A=)
c.4315-50A= (n.4315-50A=)
12g.51789231A>CCA6571782SCN8Ac.4282-50A>C (n.4282-50A>C)
c.2346-50A>C
c.4159-50A>C (n.4159-50A>C)
c.4315-50A>C (n.4315-50A>C)
 dbSNP ExAC gnomAD v3 gnomAD v4
12g.51789231A>GCA689793546SCN8Ac.4282-50A>G (n.4282-50A>G)
c.2346-50A>G
c.4159-50A>G (n.4159-50A>G)
c.4315-50A>G (n.4315-50A>G)
 dbSNP gnomAD v3 gnomAD v4
12g.51789233C>ACA2618843264SCN8Ac.4282-48C>A (n.4282-48C>A)
c.2346-48C>A
c.4159-48C>A (n.4159-48C>A)
c.4315-48C>A (n.4315-48C>A)
 gnomAD v4
12g.51789233C=CA2036172110SCN8Ac.4282-48C= (n.4282-48C=)
c.2346-48C=
c.4159-48C= (n.4159-48C=)
c.4315-48C= (n.4315-48C=)
12g.51789233C>TCA6571783SCN8Ac.4282-48C>T (n.4282-48C>T)
c.2346-48C>T
c.4159-48C>T (n.4159-48C>T)
c.4315-48C>T (n.4315-48C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.51789234T>CCA2618843268SCN8Ac.4282-47T>C (n.4282-47T>C)
c.2346-47T>C
c.4159-47T>C (n.4159-47T>C)
c.4315-47T>C (n.4315-47T>C)
 gnomAD v4
12g.51789235C=CA2036172111SCN8Ac.4282-46C= (n.4282-46C=)
c.2346-46C=
c.4159-46C= (n.4159-46C=)
c.4315-46C= (n.4315-46C=)
12g.51789235C>GCA6571784SCN8Ac.4282-46C>G (n.4282-46C>G)
c.2346-46C>G
c.4159-46C>G (n.4159-46C>G)
c.4315-46C>G (n.4315-46C>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51789235C>TCA2036172112SCN8Ac.4282-46C>T (n.4282-46C>T)
c.2346-46C>T
c.4159-46C>T (n.4159-46C>T)
c.4315-46C>T (n.4315-46C>T)
 dbSNP
12g.51789236C=CA2036172118SCN8Ac.4282-45C= (n.4282-45C=)
c.2346-45C=
c.4159-45C= (n.4159-45C=)
c.4315-45C= (n.4315-45C=)
12g.51789236C>GCA6571785SCN8Ac.4282-45C>G (n.4282-45C>G)
c.2346-45C>G
c.4159-45C>G (n.4159-45C>G)
c.4315-45C>G (n.4315-45C>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51789236C>TCA236329326SCN8Ac.4282-45C>T (n.4282-45C>T)
c.2346-45C>T
c.4159-45C>T (n.4159-45C>T)
c.4315-45C>T (n.4315-45C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.51789240C>ACA236329330SCN8Ac.4282-41C>A (n.4282-41C>A)
c.2346-41C>A
c.4159-41C>A (n.4159-41C>A)
c.4315-41C>A (n.4315-41C>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.51789240C=CA2036172120SCN8Ac.4282-41C= (n.4282-41C=)
c.2346-41C=
c.4159-41C= (n.4159-41C=)
c.4315-41C= (n.4315-41C=)
12g.51789240C>GCA2618843285SCN8Ac.4282-41C>G (n.4282-41C>G)
c.2346-41C>G
c.4159-41C>G (n.4159-41C>G)
c.4315-41C>G (n.4315-41C>G)
 gnomAD v4
12g.51789240C>TCA6571786SCN8Ac.4282-41C>T (n.4282-41C>T)
c.2346-41C>T
c.4159-41C>T (n.4159-41C>T)
c.4315-41C>T (n.4315-41C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51789241T>CCA6571787SCN8Ac.4282-40T>C (n.4282-40T>C)
c.2346-40T>C
c.4159-40T>C (n.4159-40T>C)
c.4315-40T>C (n.4315-40T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51789241T>GCA6571788SCN8Ac.4282-40T>G (n.4282-40T>G)
c.2346-40T>G
c.4159-40T>G (n.4159-40T>G)
c.4315-40T>G (n.4315-40T>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51789241T=CA2036172124SCN8Ac.4282-40T= (n.4282-40T=)
c.2346-40T=
c.4159-40T= (n.4159-40T=)
c.4315-40T= (n.4315-40T=)
12g.51789242A=CA2036172127SCN8Ac.4282-39A= (n.4282-39A=)
c.2346-39A=
c.4159-39A= (n.4159-39A=)
c.4315-39A= (n.4315-39A=)
12g.51789242A>CCA2618843302SCN8Ac.4282-39A>C (n.4282-39A>C)
c.2346-39A>C
c.4159-39A>C (n.4159-39A>C)
c.4315-39A>C (n.4315-39A>C)
 gnomAD v4
12g.51789242A>GCA605052721SCN8Ac.4282-39A>G (n.4282-39A>G)
c.2346-39A>G
c.4159-39A>G (n.4159-39A>G)
c.4315-39A>G (n.4315-39A>G)
 dbSNP gnomAD v2
12g.51789243G>ACA605052723SCN8Ac.4282-38G>A (n.4282-38G>A)
c.2346-38G>A
c.4159-38G>A (n.4159-38G>A)
c.4315-38G>A (n.4315-38G>A)
 dbSNP gnomAD v2 gnomAD v4
12g.51789243G=CA2036172130SCN8Ac.4282-38G= (n.4282-38G=)
c.2346-38G=
c.4159-38G= (n.4159-38G=)
c.4315-38G= (n.4315-38G=)
12g.51789243G>TCA6571789SCN8Ac.4282-38G>T (n.4282-38G>T)
c.2346-38G>T
c.4159-38G>T (n.4159-38G>T)
c.4315-38G>T (n.4315-38G>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51789245A>GCA2575160445SCN8Ac.4282-36A>G (n.4282-36A>G)
c.2346-36A>G
c.4159-36A>G (n.4159-36A>G)
c.4315-36A>G (n.4315-36A>G)
12g.51789246G>ACA947685369SCN8Ac.4282-35G>A (n.4282-35G>A)
c.2346-35G>A
c.4159-35G>A (n.4159-35G>A)
c.4315-35G>A (n.4315-35G>A)
 dbSNP gnomAD v3 gnomAD v4
12g.51789246G=CA2036172132SCN8Ac.4282-35G= (n.4282-35G=)
c.2346-35G=
c.4159-35G= (n.4159-35G=)
c.4315-35G= (n.4315-35G=)
12g.51789249G>ACA2036172134SCN8Ac.4282-32G>A (n.4282-32G>A)
c.2346-32G>A
c.4159-32G>A (n.4159-32G>A)
c.4315-32G>A (n.4315-32G>A)
 dbSNP
12g.51789249G>CCA2618843307SCN8Ac.4282-32G>C (n.4282-32G>C)
c.2346-32G>C
c.4159-32G>C (n.4159-32G>C)
c.4315-32G>C (n.4315-32G>C)
 gnomAD v4
12g.51789249G=CA2036172133SCN8Ac.4282-32G= (n.4282-32G=)
c.2346-32G=
c.4159-32G= (n.4159-32G=)
c.4315-32G= (n.4315-32G=)
12g.51789250A=CA2036172135SCN8Ac.4282-31A= (n.4282-31A=)
c.2346-31A=
c.4159-31A= (n.4159-31A=)
c.4315-31A= (n.4315-31A=)
12g.51789250A>GCA2036172136SCN8Ac.4282-31A>G (n.4282-31A>G)
c.2346-31A>G
c.4159-31A>G (n.4159-31A>G)
c.4315-31A>G (n.4315-31A>G)
 dbSNP gnomAD v4
12g.51789252T>ACA2795979777SCN8Ac.4282-29T>A (n.4282-29T>A)
c.2346-29T>A
c.4159-29T>A (n.4159-29T>A)
c.4315-29T>A (n.4315-29T>A)
12g.51789253C>ACA605052729SCN8Ac.4282-28C>A (n.4282-28C>A)
c.2346-28C>A
c.4159-28C>A (n.4159-28C>A)
c.4315-28C>A (n.4315-28C>A)
 dbSNP gnomAD v2
12g.51789253C=CA2036172137SCN8Ac.4282-28C= (n.4282-28C=)
c.2346-28C=
c.4159-28C= (n.4159-28C=)
c.4315-28C= (n.4315-28C=)
12g.51789253C>TCA2575160446SCN8Ac.4282-28C>T (n.4282-28C>T)
c.2346-28C>T
c.4159-28C>T (n.4159-28C>T)
c.4315-28C>T (n.4315-28C>T)
12g.51789256T>CCA605052734SCN8Ac.4282-25T>C (n.4282-25T>C)
c.2346-25T>C
c.4159-25T>C (n.4159-25T>C)
c.4315-25T>C (n.4315-25T>C)
 dbSNP gnomAD v2 gnomAD v4
12g.51789256T=CA2036172140SCN8Ac.4282-25T= (n.4282-25T=)
c.2346-25T=
c.4159-25T= (n.4159-25T=)
c.4315-25T= (n.4315-25T=)
12g.51789258C=CA2036172146SCN8Ac.4282-23C= (n.4282-23C=)
c.2346-23C=
c.4159-23C= (n.4159-23C=)
c.4315-23C= (n.4315-23C=)
12g.51789258C>TCA2036172144SCN8Ac.4282-23C>T (n.4282-23C>T)
c.2346-23C>T
c.4159-23C>T (n.4159-23C>T)
c.4315-23C>T (n.4315-23C>T)
 dbSNP gnomAD v4
12g.51789259C=CA2036172148SCN8Ac.4282-22C= (n.4282-22C=)
c.2346-22C=
c.4159-22C= (n.4159-22C=)
c.4315-22C= (n.4315-22C=)
12g.51789259C>TCA6571790SCN8Ac.4282-22C>T (n.4282-22C>T)
c.2346-22C>T
c.4159-22C>T (n.4159-22C>T)
c.4315-22C>T (n.4315-22C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.51789260T>CCA2618843330SCN8Ac.4282-21T>C (n.4282-21T>C)
c.2346-21T>C
c.4159-21T>C (n.4159-21T>C)
c.4315-21T>C (n.4315-21T>C)
 gnomAD v4
12g.51789260T>GCA2618843329SCN8Ac.4282-21T>G (n.4282-21T>G)
c.2346-21T>G
c.4159-21T>G (n.4159-21T>G)
c.4315-21T>G (n.4315-21T>G)
 gnomAD v4
12g.51789262T>CCA6571791SCN8Ac.4282-19T>C (n.4282-19T>C)
c.2346-19T>C
c.4159-19T>C (n.4159-19T>C)
c.4315-19T>C (n.4315-19T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.51789262T=CA2036172152SCN8Ac.4282-19T= (n.4282-19T=)
c.2346-19T=
c.4159-19T= (n.4159-19T=)
c.4315-19T= (n.4315-19T=)
12g.51789266C>ACA2618843337SCN8Ac.4282-15C>A (n.4282-15C>A)
c.2346-15C>A
c.4159-15C>A (n.4159-15C>A)
c.4315-15C>A (n.4315-15C>A)
 gnomAD v4
12g.51789267C>ACA605052745SCN8Ac.4282-14C>A (n.4282-14C>A)
c.2346-14C>A
c.4159-14C>A (n.4159-14C>A)
c.4315-14C>A (n.4315-14C>A)
 ClinVar dbSNP gnomAD v2 gnomAD v4
12g.51789267C=CA2036172154SCN8Ac.4282-14C= (n.4282-14C=)
c.2346-14C=
c.4159-14C= (n.4159-14C=)
c.4315-14C= (n.4315-14C=)
12g.51789267C>TCA605052743SCN8Ac.4282-14C>T (n.4282-14C>T)
c.2346-14C>T
c.4159-14C>T (n.4159-14C>T)
c.4315-14C>T (n.4315-14C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v4
12g.51789268T>CCA2618843356SCN8Ac.4282-13T>C (n.4282-13T>C)
c.2346-13T>C
c.4159-13T>C (n.4159-13T>C)
c.4315-13T>C (n.4315-13T>C)
 gnomAD v4
12g.51789269G>ACA2795979778SCN8Ac.4282-12G>A (n.4282-12G>A)
c.2346-12G>A
c.4159-12G>A (n.4159-12G>A)
c.4315-12G>A (n.4315-12G>A)
12g.51789270T>CCA2575160447SCN8Ac.4282-11T>C (n.4282-11T>C)
c.2346-11T>C
c.4159-11T>C (n.4159-11T>C)
c.4315-11T>C (n.4315-11T>C)
 gnomAD v4
12g.51789271C=CA2036172162SCN8Ac.4282-10C= (n.4282-10C=)
c.2346-10C=
c.4159-10C= (n.4159-10C=)
c.4315-10C= (n.4315-10C=)
12g.51789271C>GCA6571792SCN8Ac.4282-10C>G (n.4282-10C>G)
c.2346-10C>G
c.4159-10C>G (n.4159-10C>G)
c.4315-10C>G (n.4315-10C>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51789271C>TCA6571793SCN8Ac.4282-10C>T (n.4282-10C>T)
c.2346-10C>T
c.4159-10C>T (n.4159-10C>T)
c.4315-10C>T (n.4315-10C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51789272C>ACA479794906SCN8Ac.4282-9C>A (n.4282-9C>A)
c.2346-9C>A
c.4159-9C>A (n.4159-9C>A)
c.4315-9C>A (n.4315-9C>A)
 COSMIC COSMIC
12g.51789272C=CA2036172167SCN8Ac.4282-9C= (n.4282-9C=)
c.2346-9C=
c.4159-9C= (n.4159-9C=)
c.4315-9C= (n.4315-9C=)
12g.51789272C>GCA6571794SCN8Ac.4282-9C>G (n.4282-9C>G)
c.2346-9C>G
c.4159-9C>G (n.4159-9C>G)
c.4315-9C>G (n.4315-9C>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.51789276G>TCA2618843392SCN8Ac.4282-5G>T (n.4282-5G>T)
c.2346-5G>T
c.4159-5G>T (n.4159-5G>T)
c.4315-5G>T (n.4315-5G>T)
 gnomAD v4
12g.51789277A>GCA2575160448SCN8Ac.4282-4A>G (n.4282-4A>G)
c.2346-4A>G
c.4159-4A>G (n.4159-4A>G)
c.4315-4A>G (n.4315-4A>G)
12g.51789278C>TCA2739272035SCN8Ac.4282-3C>T (n.4282-3C>T)
c.2346-3C>T
c.4159-3C>T (n.4159-3C>T)
c.4315-3C>T (n.4315-3C>T)
 ClinVar
12g.51789279A>CCA384907866SCN8Ac.4282-2A>C (n.4282-2A>C)
c.2346-2A>C
c.4159-2A>C (n.4159-2A>C)
c.4315-2A>C (n.4315-2A>C)
12g.51789279A>GCA384907870SCN8Ac.4282-2A>G (n.4282-2A>G)
c.2346-2A>G
c.4159-2A>G (n.4159-2A>G)
c.4315-2A>G (n.4315-2A>G)
12g.51789279A>TCA384907873SCN8Ac.4282-2A>T (n.4282-2A>T)
c.2346-2A>T
c.4159-2A>T (n.4159-2A>T)
c.4315-2A>T (n.4315-2A>T)
12g.51789280G>ACA384907880SCN8Ac.4282-1G>A (n.4282-1G>A)
c.2346-1G>A
c.4159-1G>A (n.4159-1G>A)
c.4315-1G>A (n.4315-1G>A)
 COSMIC COSMIC
12g.51789280G>CCA384907883SCN8Ac.4282-1G>C (n.4282-1G>C)
c.2346-1G>C
c.4159-1G>C (n.4159-1G>C)
c.4315-1G>C (n.4315-1G>C)
12g.51789280G>TCA384907885SCN8Ac.4282-1G>T (n.4282-1G>T)
c.2346-1G>T
c.4159-1G>T (n.4159-1G>T)
c.4315-1G>T (n.4315-1G>T)
12g.51789281C>ACA384907892SCN8Ac.4282C>A (p.Pro1428Thr)
c.2346C>A
c.4159C>A (p.Pro1387Thr)
c.4315C>A (p.Pro1439Thr)
 gnomAD v4
12g.51789281C=CA2036172170SCN8Ac.4282C= (p.Pro1428=)
c.2346C=
c.4159C= (p.Pro1387=)
c.4315C= (p.Pro1439=)
12g.51789281C>GCA384907890SCN8Ac.4282C>G (p.Pro1428Ala)
c.2346C>G
c.4159C>G (p.Pro1387Ala)
c.4315C>G (p.Pro1439Ala)
12g.51789281C>TCA384907888SCN8Ac.4282C>T (p.Pro1428Ser)
c.2346C>T
c.4159C>T (p.Pro1387Ser)
c.4315C>T (p.Pro1439Ser)
 dbSNP
12g.51789282C>ACA384907904SCN8Ac.4283C>A (p.Pro1428His)
c.2347C>A
c.4160C>A (p.Pro1387His)
c.4316C>A (p.Pro1439His)
12g.51789282C>GCA384907895SCN8Ac.4283C>G (p.Pro1428Arg)
c.2347C>G
c.4160C>G (p.Pro1387Arg)
c.4316C>G (p.Pro1439Arg)
12g.51789282C>TCA384907902SCN8Ac.4283C>T (p.Pro1428Leu)
c.2347C>T
c.4160C>T (p.Pro1387Leu)
c.4316C>T (p.Pro1439Leu)
12g.51789283T>ACA479794907SCN8Ac.4284T>A (p.Pro1428=)
c.2348T>A
c.4161T>A (p.Pro1387=)
c.4317T>A (p.Pro1439=)
12g.51789283T>CCA479794908SCN8Ac.4284T>C (p.Pro1428=)
c.2348T>C
c.4161T>C (p.Pro1387=)
c.4317T>C (p.Pro1439=)
12g.51789283T>GCA479794909SCN8Ac.4284T>G (p.Pro1428=)
c.2348T>G
c.4161T>G (p.Pro1387=)
c.4317T>G (p.Pro1439=)
12g.51789284G>ACA384907909SCN8Ac.4285G>A (p.Asp1429Asn)
c.2349G>A
c.4162G>A (p.Asp1388Asn)
c.4318G>A (p.Asp1440Asn)
12g.51789284G>CCA384907919SCN8Ac.4285G>C (p.Asp1429His)
c.2349G>C
c.4162G>C (p.Asp1388His)
c.4318G>C (p.Asp1440His)
12g.51789284G>TCA384907921SCN8Ac.4285G>T (p.Asp1429Tyr)
c.2349G>T
c.4162G>T (p.Asp1388Tyr)
c.4318G>T (p.Asp1440Tyr)
12g.51789285A=CA2036172172SCN8Ac.4286A= (p.Asp1429=)
c.2350A=
c.4163A= (p.Asp1388=)
c.4319A= (p.Asp1440=)
12g.51789285A>CCA384907925SCN8Ac.4286A>C (p.Asp1429Ala)
c.2350A>C
c.4163A>C (p.Asp1388Ala)
c.4319A>C (p.Asp1440Ala)
12g.51789285A>GCA384907928SCN8Ac.4286A>G (p.Asp1429Gly)
c.2350A>G
c.4163A>G (p.Asp1388Gly)
c.4319A>G (p.Asp1440Gly)
 dbSNP gnomAD v3 gnomAD v4
12g.51789285A>TCA384907931SCN8Ac.4286A>T (p.Asp1429Val)
c.2350A>T
c.4163A>T (p.Asp1388Val)
c.4319A>T (p.Asp1440Val)
12g.51789286T>ACA384907934SCN8Ac.4287T>A (p.Asp1429Glu)
c.2351T>A
c.4164T>A (p.Asp1388Glu)
c.4320T>A (p.Asp1440Glu)
12g.51789286T>CCA479794910SCN8Ac.4287T>C (p.Asp1429=)
c.2351T>C
c.4164T>C (p.Asp1388=)
c.4320T>C (p.Asp1440=)
12g.51789286T>GCA384907935SCN8Ac.4287T>G (p.Asp1429Glu)
c.2351T>G
c.4164T>G (p.Asp1388Glu)
c.4320T>G (p.Asp1440Glu)
12g.51789287G>ACA384907939SCN8Ac.4288G>A (p.Glu1430Lys)
c.2352G>A
c.4165G>A (p.Glu1389Lys)
c.4321G>A (p.Glu1441Lys)
12g.51789287G>CCA384907941SCN8Ac.4288G>C (p.Glu1430Gln)
c.2352G>C
c.4165G>C (p.Glu1389Gln)
c.4321G>C (p.Glu1441Gln)
12g.51789287G=CA2036172178SCN8Ac.4288G= (p.Glu1430=)
c.2352G=
c.4165G= (p.Glu1389=)
c.4321G= (p.Glu1441=)
12g.51789287G>TCA384907944SCN8Ac.4288G>T (p.Glu1430Ter)
c.2352G>T
c.4165G>T (p.Glu1389Ter)
c.4321G>T (p.Glu1441Ter)
 dbSNP gnomAD v4
12g.51789288A>CCA384907951SCN8Ac.4289A>C (p.Glu1430Ala)
c.2353A>C
c.4166A>C (p.Glu1389Ala)
c.4322A>C (p.Glu1441Ala)
12g.51789288A>GCA384907946SCN8Ac.4289A>G (p.Glu1430Gly)
c.2353A>G
c.4166A>G (p.Glu1389Gly)
c.4322A>G (p.Glu1441Gly)
12g.51789288A>TCA384907949SCN8Ac.4289A>T (p.Glu1430Val)
c.2353A>T
c.4166A>T (p.Glu1389Val)
c.4322A>T (p.Glu1441Val)
12g.51789289G>ACA6571795SCN8Ac.4290G>A (p.Glu1430=)
c.2354G>A
c.4167G>A (p.Glu1389=)
c.4323G>A (p.Glu1441=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.51789289G>CCA384907958SCN8Ac.4290G>C (p.Glu1430Asp)
c.2354G>C
c.4167G>C (p.Glu1389Asp)
c.4323G>C (p.Glu1441Asp)
12g.51789289G=CA2036172181SCN8Ac.4290G= (p.Glu1430=)
c.2354G=
c.4167G= (p.Glu1389=)
c.4323G= (p.Glu1441=)
12g.51789289G>TCA384907960SCN8Ac.4290G>T (p.Glu1430Asp)
c.2354G>T
c.4167G>T (p.Glu1389Asp)
c.4323G>T (p.Glu1441Asp)
12g.51789290C>ACA384907963SCN8Ac.4291C>A (p.Gln1431Lys)
c.2355C>A
c.4168C>A (p.Gln1390Lys)
c.4324C>A (p.Gln1442Lys)
12g.51789290C>GCA384907966SCN8Ac.4291C>G (p.Gln1431Glu)
c.2355C>G
c.4168C>G (p.Gln1390Glu)
c.4324C>G (p.Gln1442Glu)
12g.51789290C>TCA384907967SCN8Ac.4291C>T (p.Gln1431Ter)
c.2355C>T
c.4168C>T (p.Gln1390Ter)
c.4324C>T (p.Gln1442Ter)
12g.51789291A>CCA384907968SCN8Ac.4292A>C (p.Gln1431Pro)
c.2356A>C
c.4169A>C (p.Gln1390Pro)
c.4325A>C (p.Gln1442Pro)
12g.51789291A>GCA384907969SCN8Ac.4292A>G (p.Gln1431Arg)
c.2356A>G
c.4169A>G (p.Gln1390Arg)
c.4325A>G (p.Gln1442Arg)
12g.51789291A>TCA384907970SCN8Ac.4292A>T (p.Gln1431Leu)
c.2356A>T
c.4169A>T (p.Gln1390Leu)
c.4325A>T (p.Gln1442Leu)
12g.51789292G>ACA6571796SCN8Ac.4293G>A (p.Gln1431=)
c.2357G>A
c.4170G>A (p.Gln1390=)
c.4326G>A (p.Gln1442=)
 dbSNP ExAC gnomAD v4
12g.51789292G>CCA384907975SCN8Ac.4293G>C (p.Gln1431His)
c.2357G>C
c.4170G>C (p.Gln1390His)
c.4326G>C (p.Gln1442His)
12g.51789292G=CA2036172186SCN8Ac.4293G= (p.Gln1431=)
c.2357G=
c.4170G= (p.Gln1390=)
c.4326G= (p.Gln1442=)
12g.51789292G>TCA384907977SCN8Ac.4293G>T (p.Gln1431His)
c.2357G>T
c.4170G>T (p.Gln1390His)
c.4326G>T (p.Gln1442His)
12g.51789293C>ACA384907984SCN8Ac.4294C>A (p.Pro1432Thr)
c.2358C>A
c.4171C>A (p.Pro1391Thr)
c.4327C>A (p.Pro1443Thr)
12g.51789293C>GCA384907986SCN8Ac.4294C>G (p.Pro1432Ala)
c.2358C>G
c.4171C>G (p.Pro1391Ala)
c.4327C>G (p.Pro1443Ala)
12g.51789293C>TCA384907980SCN8Ac.4294C>T (p.Pro1432Ser)
c.2358C>T
c.4171C>T (p.Pro1391Ser)
c.4327C>T (p.Pro1443Ser)
12g.51789294C>ACA384907990SCN8Ac.4295C>A (p.Pro1432His)
c.2359C>A
c.4172C>A (p.Pro1391His)
c.4328C>A (p.Pro1443His)
12g.51789294C>GCA384907995SCN8Ac.4295C>G (p.Pro1432Arg)
c.2359C>G
c.4172C>G (p.Pro1391Arg)
c.4328C>G (p.Pro1443Arg)
12g.51789294C>TCA384907993SCN8Ac.4295C>T (p.Pro1432Leu)
c.2359C>T
c.4172C>T (p.Pro1391Leu)
c.4328C>T (p.Pro1443Leu)
12g.51789295T>ACA479794911SCN8Ac.4296T>A (p.Pro1432=)
c.2360T>A
c.4173T>A (p.Pro1391=)
c.4329T>A (p.Pro1443=)
12g.51789295T>CCA479794913SCN8Ac.4296T>C (p.Pro1432=)
c.2360T>C
c.4173T>C (p.Pro1391=)
c.4329T>C (p.Pro1443=)
 gnomAD v4
12g.51789295T>GCA479794912SCN8Ac.4296T>G (p.Pro1432=)
c.2360T>G
c.4173T>G (p.Pro1391=)
c.4329T>G (p.Pro1443=)
12g.51789296A=CA2036172191SCN8Ac.4297A= (p.Lys1433=)
c.2361A=
c.4174A= (p.Lys1392=)
c.4330A= (p.Lys1444=)
12g.51789296A>CCA384908000SCN8Ac.4297A>C (p.Lys1433Gln)
c.2361A>C
c.4174A>C (p.Lys1392Gln)
c.4330A>C (p.Lys1444Gln)
12g.51789296A>GCA384908003SCN8Ac.4297A>G (p.Lys1433Glu)
c.2361A>G
c.4174A>G (p.Lys1392Glu)
c.4330A>G (p.Lys1444Glu)
 COSMIC COSMIC
12g.51789296A>TCA384908006SCN8Ac.4297A>T (p.Lys1433Ter)
c.2361A>T
c.4174A>T (p.Lys1392Ter)
c.4330A>T (p.Lys1444Ter)
 dbSNP
12g.51789297A>CCA384908008SCN8Ac.4298A>C (p.Lys1433Thr)
c.2362A>C
c.4175A>C (p.Lys1392Thr)
c.4331A>C (p.Lys1444Thr)
12g.51789297A>GCA384908012SCN8Ac.4298A>G (p.Lys1433Arg)
c.2362A>G
c.4175A>G (p.Lys1392Arg)
c.4331A>G (p.Lys1444Arg)
12g.51789297A>TCA384908014SCN8Ac.4298A>T (p.Lys1433Met)
c.2362A>T
c.4175A>T (p.Lys1392Met)
c.4331A>T (p.Lys1444Met)
12g.51789298G>ACA479794916SCN8Ac.4299G>A (p.Lys1433=)
c.2363G>A
c.4176G>A (p.Lys1392=)
c.4332G>A (p.Lys1444=)
 gnomAD v4
12g.51789298G>CCA384908016SCN8Ac.4299G>C (p.Lys1433Asn)
c.2363G>C
c.4176G>C (p.Lys1392Asn)
c.4332G>C (p.Lys1444Asn)
12g.51789298G>TCA384908019SCN8Ac.4299G>T (p.Lys1433Asn)
c.2363G>T
c.4176G>T (p.Lys1392Asn)
c.4332G>T (p.Lys1444Asn)
12g.51789299T>ACA384908024SCN8Ac.4300T>A (p.Tyr1434Asn)
c.2364T>A
c.4177T>A (p.Tyr1393Asn)
c.4333T>A (p.Tyr1445Asn)
12g.51789299T>CCA384908027SCN8Ac.4300T>C (p.Tyr1434His)
c.2364T>C
c.4177T>C (p.Tyr1393His)
c.4333T>C (p.Tyr1445His)
12g.51789299T>GCA384908029SCN8Ac.4300T>G (p.Tyr1434Asp)
c.2364T>G
c.4177T>G (p.Tyr1393Asp)
c.4333T>G (p.Tyr1445Asp)
12g.51789300A>CCA384908036SCN8Ac.4301A>C (p.Tyr1434Ser)
c.2365A>C
c.4178A>C (p.Tyr1393Ser)
c.4334A>C (p.Tyr1445Ser)
12g.51789300A>GCA384908031SCN8Ac.4301A>G (p.Tyr1434Cys)
c.2365A>G
c.4178A>G (p.Tyr1393Cys)
c.4334A>G (p.Tyr1445Cys)
12g.51789300A>TCA384908032SCN8Ac.4301A>T (p.Tyr1434Phe)
c.2365A>T
c.4178A>T (p.Tyr1393Phe)
c.4334A>T (p.Tyr1445Phe)
12g.51789301T>ACA384908039SCN8Ac.4302T>A (p.Tyr1434Ter)
c.2366T>A
c.4179T>A (p.Tyr1393Ter)
c.4335T>A (p.Tyr1445Ter)
12g.51789301T>CCA479794919SCN8Ac.4302T>C (p.Tyr1434=)
c.2366T>C
c.4179T>C (p.Tyr1393=)
c.4335T>C (p.Tyr1445=)
12g.51789301T>GCA384908042SCN8Ac.4302T>G (p.Tyr1434Ter)
c.2366T>G
c.4179T>G (p.Tyr1393Ter)
c.4335T>G (p.Tyr1445Ter)
12g.51789302G>ACA384908047SCN8Ac.4303G>A (p.Glu1435Lys)
c.2367G>A
c.4180G>A (p.Glu1394Lys)
c.4336G>A (p.Glu1446Lys)
12g.51789302G>CCA384908050SCN8Ac.4303G>C (p.Glu1435Gln)
c.2367G>C
c.4180G>C (p.Glu1394Gln)
c.4336G>C (p.Glu1446Gln)
12g.51789302G=CA2036172192SCN8Ac.4303G= (p.Glu1435=)
c.2367G=
c.4180G= (p.Glu1394=)
c.4336G= (p.Glu1446=)
12g.51789302G>TCA384908052SCN8Ac.4303G>T (p.Glu1435Ter)
c.2367G>T
c.4180G>T (p.Glu1394Ter)
c.4336G>T (p.Glu1446Ter)
 dbSNP
12g.51789303_51789304delCA2739272036SCN8Ac.4304_4305del (p.Glu1435GlyfsTer30)
c.2368_2369del
c.4181_4182del (p.Glu1394GlyfsTer30)
c.4337_4338del (p.Glu1446GlyfsTer30)
 ClinVar
12g.51789303A=CA2036172195SCN8Ac.4304A= (p.Glu1435=)
c.2368A=
c.4181A= (p.Glu1394=)
c.4337A= (p.Glu1446=)
12g.51789303A>CCA384908055SCN8Ac.4304A>C (p.Glu1435Ala)
c.2368A>C
c.4181A>C (p.Glu1394Ala)
c.4337A>C (p.Glu1446Ala)
 ClinVar dbSNP
12g.51789303A>GCA384908057SCN8Ac.4304A>G (p.Glu1435Gly)
c.2368A>G
c.4181A>G (p.Glu1394Gly)
c.4337A>G (p.Glu1446Gly)
12g.51789303A>TCA384908060SCN8Ac.4304A>T (p.Glu1435Val)
c.2368A>T
c.4181A>T (p.Glu1394Val)
c.4337A>T (p.Glu1446Val)
12g.51789304G>ACA479794923SCN8Ac.4305G>A (p.Glu1435=)
c.2369G>A
c.4182G>A (p.Glu1394=)
c.4338G>A (p.Glu1446=)
 ClinVar dbSNP
12g.51789304G>CCA384908064SCN8Ac.4305G>C (p.Glu1435Asp)
c.2369G>C
c.4182G>C (p.Glu1394Asp)
c.4338G>C (p.Glu1446Asp)
12g.51789304G=CA2036172201SCN8Ac.4305G= (p.Glu1435=)
c.2369G=
c.4182G= (p.Glu1394=)
c.4338G= (p.Glu1446=)
12g.51789304G>TCA384908065SCN8Ac.4305G>T (p.Glu1435Asp)
c.2369G>T
c.4182G>T (p.Glu1394Asp)
c.4338G>T (p.Glu1446Asp)
12g.51789305G>ACA384908069SCN8Ac.4306G>A (p.Asp1436Asn)
c.2370G>A
c.4183G>A (p.Asp1395Asn)
c.4339G>A (p.Asp1447Asn)
12g.51789305G>CCA384908072SCN8Ac.4306G>C (p.Asp1436His)
c.2370G>C
c.4183G>C (p.Asp1395His)
c.4339G>C (p.Asp1447His)
12g.51789305G>TCA384908068SCN8Ac.4306G>T (p.Asp1436Tyr)
c.2370G>T
c.4183G>T (p.Asp1395Tyr)
c.4339G>T (p.Asp1447Tyr)
12g.51789306A>CCA384908077SCN8Ac.4307A>C (p.Asp1436Ala)
c.2371A>C
c.4184A>C (p.Asp1395Ala)
c.4340A>C (p.Asp1447Ala)
12g.51789306A>GCA384908079SCN8Ac.4307A>G (p.Asp1436Gly)
c.2371A>G
c.4184A>G (p.Asp1395Gly)
c.4340A>G (p.Asp1447Gly)
12g.51789306A>TCA384908083SCN8Ac.4307A>T (p.Asp1436Val)
c.2371A>T
c.4184A>T (p.Asp1395Val)
c.4340A>T (p.Asp1447Val)
12g.51789307C>ACA384908091SCN8Ac.4308C>A (p.Asp1436Glu)
c.2372C>A
c.4185C>A (p.Asp1395Glu)
c.4341C>A (p.Asp1447Glu)
12g.51789307C=CA2036172203SCN8Ac.4308C= (p.Asp1436=)
c.2372C=
c.4185C= (p.Asp1395=)
c.4341C= (p.Asp1447=)
12g.51789307C>GCA384908093SCN8Ac.4308C>G (p.Asp1436Glu)
c.2372C>G
c.4185C>G (p.Asp1395Glu)
c.4341C>G (p.Asp1447Glu)
12g.51789307C>TCA479794927SCN8Ac.4308C>T (p.Asp1436=)
c.2372C>T
c.4185C>T (p.Asp1395=)
c.4341C>T (p.Asp1447=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.51789308A>CCA384908103SCN8Ac.4309A>C (p.Asn1437His)
c.2373A>C
c.4186A>C (p.Asn1396His)
c.4342A>C (p.Asn1448His)
12g.51789308A>GCA384908097SCN8Ac.4309A>G (p.Asn1437Asp)
c.2373A>G
c.4186A>G (p.Asn1396Asp)
c.4342A>G (p.Asn1448Asp)
12g.51789308A>TCA384908099SCN8Ac.4309A>T (p.Asn1437Tyr)
c.2373A>T
c.4186A>T (p.Asn1396Tyr)
c.4342A>T (p.Asn1448Tyr)
12g.51789309A>CCA384908106SCN8Ac.4310A>C (p.Asn1437Thr)
c.2374A>C
c.4187A>C (p.Asn1396Thr)
c.4343A>C (p.Asn1448Thr)
12g.51789309A>GCA384908109SCN8Ac.4310A>G (p.Asn1437Ser)
c.2374A>G
c.4187A>G (p.Asn1396Ser)
c.4343A>G (p.Asn1448Ser)
12g.51789309A>TCA384908111SCN8Ac.4310A>T (p.Asn1437Ile)
c.2374A>T
c.4187A>T (p.Asn1396Ile)
c.4343A>T (p.Asn1448Ile)
12g.51789310T>ACA384908114SCN8Ac.4311T>A (p.Asn1437Lys)
c.2375T>A
c.4188T>A (p.Asn1396Lys)
c.4344T>A (p.Asn1448Lys)
12g.51789310T>CCA16614148SCN8Ac.4311T>C (p.Asn1437=)
c.2375T>C
c.4188T>C (p.Asn1396=)
c.4344T>C (p.Asn1448=)
 ClinVar dbSNP gnomAD v4
12g.51789310T>GCA384908117SCN8Ac.4311T>G (p.Asn1437Lys)
c.2375T>G
c.4188T>G (p.Asn1396Lys)
c.4344T>G (p.Asn1448Lys)
12g.51789310T=CA2036172207SCN8Ac.4311T= (p.Asn1437=)
c.2375T=
c.4188T= (p.Asn1396=)
c.4344T= (p.Asn1448=)
12g.51789311A=CA2036172212SCN8Ac.4312A= (p.Ile1438=)
c.2376A=
c.4189A= (p.Ile1397=)
c.4345A= (p.Ile1449=)
12g.51789311A>CCA384908120SCN8Ac.4312A>C (p.Ile1438Leu)
c.2376A>C
c.4189A>C (p.Ile1397Leu)
c.4345A>C (p.Ile1449Leu)
12g.51789311A>GCA384908125SCN8Ac.4312A>G (p.Ile1438Val)
c.2376A>G
c.4189A>G (p.Ile1397Val)
c.4345A>G (p.Ile1449Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.51789311A>TCA384908123SCN8Ac.4312A>T (p.Ile1438Phe)
c.2376A>T
c.4189A>T (p.Ile1397Phe)
c.4345A>T (p.Ile1449Phe)
12g.51789312T>ACA384908129SCN8Ac.4313T>A (p.Ile1438Asn)
c.2377T>A
c.4190T>A (p.Ile1397Asn)
c.4346T>A (p.Ile1449Asn)
12g.51789312T>CCA384908132SCN8Ac.4313T>C (p.Ile1438Thr)
c.2377T>C
c.4190T>C (p.Ile1397Thr)
c.4346T>C (p.Ile1449Thr)
12g.51789312T>GCA384908134SCN8Ac.4313T>G (p.Ile1438Ser)
c.2377T>G
c.4190T>G (p.Ile1397Ser)
c.4346T>G (p.Ile1449Ser)

Number of alleles fetched