Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.131860281_131860289dup | CA2680367033 | ENPP1 | c.796-106_796-98dup (n.796-106_796-98dup) c.413-106_413-98dup c.287-106_287-98dup | gnomAD v4 |
6 | g.131860288T>C | CA1664258946 | ENPP1 | c.796-99T>C (n.796-99T>C) c.413-99T>C c.287-99T>C | dbSNP gnomAD v3 gnomAD v4 |
6 | g.131860288T= | CA1664258944 | ENPP1 | c.796-99T= (n.796-99T=) c.413-99T= c.287-99T= | |
6 | g.131860289_131860290delinsAG | CA1664258947 | ENPP1 | c.796-98_796-97delinsAG (n.796-98_796-97delinsAG) c.413-98_413-97delinsAG c.287-98_287-97delinsAG | |
6 | g.131860290del | CA1094546379 | ENPP1 | c.796-97del (n.796-97del) c.413-97del c.287-97del | dbSNP gnomAD v3 gnomAD v4 |
6 | g.131860290G>C | CA2680367036 | ENPP1 | c.796-97G>C (n.796-97G>C) c.413-97G>C c.287-97G>C | gnomAD v4 |
6 | g.131860290G>T | CA2680367037 | ENPP1 | c.796-97G>T (n.796-97G>T) c.413-97G>T c.287-97G>T | gnomAD v4 |
6 | g.131860291C= | CA1664258951 | ENPP1 | c.796-96C= (n.796-96C=) c.413-96C= c.287-96C= | |
6 | g.131860291C>T | CA1094546383 | ENPP1 | c.796-96C>T (n.796-96C>T) c.413-96C>T c.287-96C>T | dbSNP gnomAD v3 gnomAD v4 |
6 | g.131860292T>G | CA2680367038 | ENPP1 | c.796-95T>G (n.796-95T>G) c.413-95T>G c.287-95T>G | gnomAD v4 |
6 | g.131860294C>A | CA2680367039 | ENPP1 | c.796-93C>A (n.796-93C>A) c.413-93C>A c.287-93C>A | gnomAD v4 |
6 | g.131860294C>T | CA2578742856 | ENPP1 | c.796-93C>T (n.796-93C>T) c.413-93C>T c.287-93C>T | gnomAD v4 |
6 | g.131860295A>G | CA2578742857 | ENPP1 | c.796-92A>G (n.796-92A>G) c.413-92A>G c.287-92A>G | |
6 | g.131860296G>A | CA147933521 | ENPP1 | c.796-91G>A (n.796-91G>A) c.413-91G>A c.287-91G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.131860296G= | CA1664258952 | ENPP1 | c.796-91G= (n.796-91G=) c.413-91G= c.287-91G= | |
6 | g.131860296G>T | CA2680367040 | ENPP1 | c.796-91G>T (n.796-91G>T) c.413-91G>T c.287-91G>T | gnomAD v4 |
6 | g.131860299A>G | CA2680367041 | ENPP1 | c.796-88A>G (n.796-88A>G) c.413-88A>G c.287-88A>G | gnomAD v4 |
6 | g.131860300T>C | CA2578742858 | ENPP1 | c.796-87T>C (n.796-87T>C) c.413-87T>C c.287-87T>C | gnomAD v4 |
6 | g.131860301C>A | CA819065643 | ENPP1 | c.796-86C>A (n.796-86C>A) c.413-86C>A c.287-86C>A | dbSNP gnomAD v4 |
6 | g.131860301C= | CA1664258954 | ENPP1 | c.796-86C= (n.796-86C=) c.413-86C= c.287-86C= | |
6 | g.131860301C>T | CA147933538 | ENPP1 | c.796-86C>T (n.796-86C>T) c.413-86C>T c.287-86C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.131860302G>A | CA147933548 | ENPP1 | c.796-85G>A (n.796-85G>A) c.413-85G>A c.287-85G>A | dbSNP gnomAD v4 |
6 | g.131860302G>C | CA147933555 | ENPP1 | c.796-85G>C (n.796-85G>C) c.413-85G>C c.287-85G>C | dbSNP gnomAD v4 |
6 | g.131860302G= | CA1664258959 | ENPP1 | c.796-85G= (n.796-85G=) c.413-85G= c.287-85G= | |
6 | g.131860302G>T | CA2680367042 | ENPP1 | c.796-85G>T (n.796-85G>T) c.413-85G>T c.287-85G>T | gnomAD v4 |
6 | g.131860303G>C | CA147933559 | ENPP1 | c.796-84G>C (n.796-84G>C) c.413-84G>C c.287-84G>C | dbSNP gnomAD v4 |
6 | g.131860303G= | CA1664258962 | ENPP1 | c.796-84G= (n.796-84G=) c.413-84G= c.287-84G= | |
6 | g.131860307C= | CA1664258965 | ENPP1 | c.796-80C= (n.796-80C=) c.413-80C= c.287-80C= | |
6 | g.131860307C>T | CA1664258967 | ENPP1 | c.796-80C>T (n.796-80C>T) c.413-80C>T c.287-80C>T | dbSNP |
6 | g.131860308T>A | CA1664258970 | ENPP1 | c.796-79T>A (n.796-79T>A) c.413-79T>A c.287-79T>A | dbSNP |
6 | g.131860308T= | CA1664258969 | ENPP1 | c.796-79T= (n.796-79T=) c.413-79T= c.287-79T= | |
6 | g.131860313G>T | CA2680367043 | ENPP1 | c.796-74G>T (n.796-74G>T) c.413-74G>T c.287-74G>T | gnomAD v4 |
6 | g.131860314A>G | CA2680367044 | ENPP1 | c.796-73A>G (n.796-73A>G) c.413-73A>G c.287-73A>G | gnomAD v4 |
6 | g.131860314A>T | CA2773093861 | ENPP1 | c.796-73A>T (n.796-73A>T) c.413-73A>T c.287-73A>T | |
6 | g.131860315T>A | CA1664258973 | ENPP1 | c.796-72T>A (n.796-72T>A) c.413-72T>A c.287-72T>A | dbSNP |
6 | g.131860315T= | CA1664258971 | ENPP1 | c.796-72T= (n.796-72T=) c.413-72T= c.287-72T= | |
6 | g.131860316G>T | CA2680367045 | ENPP1 | c.796-71G>T (n.796-71G>T) c.413-71G>T c.287-71G>T | gnomAD v4 |
6 | g.131860317A= | CA1664258974 | ENPP1 | c.796-70A= (n.796-70A=) c.413-70A= c.287-70A= | |
6 | g.131860317A>C | CA2680367046 | ENPP1 | c.796-70A>C (n.796-70A>C) c.413-70A>C c.287-70A>C | gnomAD v4 |
6 | g.131860317A>T | CA2773093862 | ENPP1 | c.796-70A>T (n.796-70A>T) c.413-70A>T c.287-70A>T | |
6 | g.131860318T>C | CA1664258980 | ENPP1 | c.796-69T>C (n.796-69T>C) c.413-69T>C c.287-69T>C | dbSNP gnomAD v4 |
6 | g.131860318T= | CA1664258978 | ENPP1 | c.796-69T= (n.796-69T=) c.413-69T= c.287-69T= | |
6 | g.131860324dup | CA570098331 | ENPP1 | c.796-63dup (n.796-63dup) c.413-63dup c.287-63dup | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.131860324del | CA2680367047 | ENPP1 | c.796-63del (n.796-63del) c.413-63del c.287-63del | gnomAD v4 |
6 | g.131860325C>A | CA2680367048 | ENPP1 | c.796-62C>A (n.796-62C>A) c.413-62C>A c.287-62C>A | dbSNP gnomAD v4 |
6 | g.131860326T>C | CA819065646 | ENPP1 | c.796-61T>C (n.796-61T>C) c.413-61T>C c.287-61T>C | dbSNP gnomAD v4 |
6 | g.131860326T= | CA1664258981 | ENPP1 | c.796-61T= (n.796-61T=) c.413-61T= c.287-61T= | |
6 | g.131860327G>A | CA147933560 | ENPP1 | c.796-60G>A (n.796-60G>A) c.413-60G>A c.287-60G>A | dbSNP |
6 | g.131860327G>C | CA2680367049 | ENPP1 | c.796-60G>C (n.796-60G>C) c.413-60G>C c.287-60G>C | gnomAD v4 |
6 | g.131860327G= | CA1664258982 | ENPP1 | c.796-60G= (n.796-60G=) c.413-60G= c.287-60G= | |
6 | g.131860327G>T | CA2680367050 | ENPP1 | c.796-60G>T (n.796-60G>T) c.413-60G>T c.287-60G>T | gnomAD v4 |
6 | g.131860328T>A | CA2680367051 | ENPP1 | c.796-59T>A (n.796-59T>A) c.413-59T>A c.287-59T>A | gnomAD v4 |
6 | g.131860329G>A | CA147933563 | ENPP1 | c.796-58G>A (n.796-58G>A) c.413-58G>A c.287-58G>A | dbSNP |
6 | g.131860329G= | CA1664258984 | ENPP1 | c.796-58G= (n.796-58G=) c.413-58G= c.287-58G= | |
6 | g.131860329G>T | CA819065651 | ENPP1 | c.796-58G>T (n.796-58G>T) c.413-58G>T c.287-58G>T | dbSNP gnomAD v3 gnomAD v4 |
6 | g.131860331A>G | CA2578742859 | ENPP1 | c.796-56A>G (n.796-56A>G) c.413-56A>G c.287-56A>G | gnomAD v4 |
6 | g.131860332T>A | CA147933565 | ENPP1 | c.796-55T>A (n.796-55T>A) c.413-55T>A c.287-55T>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.131860332T>C | CA2578742860 | ENPP1 | c.796-55T>C (n.796-55T>C) c.413-55T>C c.287-55T>C | |
6 | g.131860332T= | CA1664258988 | ENPP1 | c.796-55T= (n.796-55T=) c.413-55T= c.287-55T= | |
6 | g.131860333G>A | CA819065656 | ENPP1 | c.796-54G>A (n.796-54G>A) c.413-54G>A c.287-54G>A | dbSNP gnomAD v3 gnomAD v4 |
6 | g.131860333G= | CA1664258990 | ENPP1 | c.796-54G= (n.796-54G=) c.413-54G= c.287-54G= | |
6 | g.131860333G>T | CA2712821345 | ENPP1 | c.796-54G>T (n.796-54G>T) c.413-54G>T c.287-54G>T | dbSNP |
6 | g.131860334T>C | CA2680367052 | ENPP1 | c.796-53T>C (n.796-53T>C) c.413-53T>C c.287-53T>C | gnomAD v4 |
6 | g.131860334T>G | CA2578742861 | ENPP1 | c.796-53T>G (n.796-53T>G) c.413-53T>G c.287-53T>G | |
6 | g.131860335A= | CA1664258991 | ENPP1 | c.796-52A= (n.796-52A=) c.413-52A= c.287-52A= | |
6 | g.131860335A>C | CA147933571 | ENPP1 | c.796-52A>C (n.796-52A>C) c.413-52A>C c.287-52A>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.131860335A>G | CA1094546390 | ENPP1 | c.796-52A>G (n.796-52A>G) c.413-52A>G c.287-52A>G | dbSNP gnomAD v3 gnomAD v4 |
6 | g.131860339A>T | CA2578742863 | ENPP1 | c.796-48A>T (n.796-48A>T) c.413-48A>T c.287-48A>T | |
6 | g.131860340del | CA2578742862 | ENPP1 | c.796-47del (n.796-47del) c.413-47del c.287-47del | |
6 | g.131860340A>T | CA2680367053 | ENPP1 | c.796-47A>T (n.796-47A>T) c.413-47A>T c.287-47A>T | gnomAD v4 |
6 | g.131860341C>A | CA2680367054 | ENPP1 | c.796-46C>A (n.796-46C>A) c.413-46C>A c.287-46C>A | gnomAD v4 |
6 | g.131860341C= | CA1664258996 | ENPP1 | c.796-46C= (n.796-46C=) c.413-46C= c.287-46C= | |
6 | g.131860341C>G | CA147933585 | ENPP1 | c.796-46C>G (n.796-46C>G) c.413-46C>G c.287-46C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.131860341C>T | CA2680367055 | ENPP1 | c.796-46C>T (n.796-46C>T) c.413-46C>T c.287-46C>T | gnomAD v4 |
6 | g.131860342del | CA2578742864 | ENPP1 | c.796-45del (n.796-45del) c.413-45del c.287-45del | |
6 | g.131860342A= | CA1664258998 | ENPP1 | c.796-45A= (n.796-45A=) c.413-45A= c.287-45A= | |
6 | g.131860342A>G | CA570098332 | ENPP1 | c.796-45A>G (n.796-45A>G) c.413-45A>G c.287-45A>G | dbSNP gnomAD v2 gnomAD v4 |
6 | g.131860342A>T | CA2680367056 | ENPP1 | c.796-45A>T (n.796-45A>T) c.413-45A>T c.287-45A>T | gnomAD v4 |
6 | g.131860343T>A | CA2773093864 | ENPP1 | c.796-44T>A (n.796-44T>A) c.413-44T>A c.287-44T>A | |
6 | g.131860344T>A | CA4002005 | ENPP1 | c.796-43T>A (n.796-43T>A) c.413-43T>A c.287-43T>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.131860344T>C | CA2680367057 | ENPP1 | c.796-43T>C (n.796-43T>C) c.413-43T>C c.287-43T>C | gnomAD v4 |
6 | g.131860344T= | CA1664259000 | ENPP1 | c.796-43T= (n.796-43T=) c.413-43T= c.287-43T= | |
6 | g.131860345A>T | CA2680367058 | ENPP1 | c.796-42A>T (n.796-42A>T) c.413-42A>T c.287-42A>T | gnomAD v4 |
6 | g.131860346A= | CA1664259003 | ENPP1 | c.796-41A= (n.796-41A=) c.413-41A= c.287-41A= | |
6 | g.131860346A>G | CA4002006 | ENPP1 | c.796-41A>G (n.796-41A>G) c.413-41A>G c.287-41A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.131860347G>A | CA4002007 | ENPP1 | c.796-40G>A (n.796-40G>A) c.413-40G>A c.287-40G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.131860347G= | CA1664259007 | ENPP1 | c.796-40G= (n.796-40G=) c.413-40G= c.287-40G= | |
6 | g.131860348T>A | CA4002008 | ENPP1 | c.796-39T>A (n.796-39T>A) c.413-39T>A c.287-39T>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.131860348T>G | CA147933629 | ENPP1 | c.796-39T>G (n.796-39T>G) c.413-39T>G c.287-39T>G | dbSNP |
6 | g.131860348T= | CA1664259011 | ENPP1 | c.796-39T= (n.796-39T=) c.413-39T= c.287-39T= | |
6 | g.131860349A>T | CA2578742865 | ENPP1 | c.796-38A>T (n.796-38A>T) c.413-38A>T c.287-38A>T | |
6 | g.131860351del | CA2680367059 | ENPP1 | c.796-36del (n.796-36del) c.413-36del c.287-36del | gnomAD v4 |
6 | g.131860350A= | CA1664259014 | ENPP1 | c.796-37A= (n.796-37A=) c.413-37A= c.287-37A= | |
6 | g.131860350A>G | CA819065668 | ENPP1 | c.796-37A>G (n.796-37A>G) c.413-37A>G c.287-37A>G | dbSNP gnomAD v3 gnomAD v4 |
6 | g.131860352C>A | CA2680367060 | ENPP1 | c.796-35C>A (n.796-35C>A) c.413-35C>A c.287-35C>A | gnomAD v4 |
6 | g.131860352C= | CA1664259016 | ENPP1 | c.796-35C= (n.796-35C=) c.413-35C= c.287-35C= | |
6 | g.131860352C>G | CA4002009 | ENPP1 | c.796-35C>G (n.796-35C>G) c.413-35C>G c.287-35C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.131860352C>T | CA4002010 | ENPP1 | c.796-35C>T (n.796-35C>T) c.413-35C>T c.287-35C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.131860354C>A | CA2680367061 | ENPP1 | c.796-33C>A (n.796-33C>A) c.413-33C>A c.287-33C>A | gnomAD v4 |
6 | g.131860354C= | CA1664259018 | ENPP1 | c.796-33C= (n.796-33C=) c.413-33C= c.287-33C= | |
6 | g.131860354C>T | CA147933640 | ENPP1 | c.796-33C>T (n.796-33C>T) c.413-33C>T c.287-33C>T | dbSNP |
6 | g.131860355A>G | CA2680367062 | ENPP1 | c.796-32A>G (n.796-32A>G) c.413-32A>G c.287-32A>G | gnomAD v4 |
6 | g.131860357C>A | CA2680367063 | ENPP1 | c.796-30C>A (n.796-30C>A) c.413-30C>A c.287-30C>A | gnomAD v4 |
6 | g.131860359T>C | CA2680367064 | ENPP1 | c.796-28T>C (n.796-28T>C) c.413-28T>C c.287-28T>C | gnomAD v4 |
6 | g.131860359T>G | CA4002011 | ENPP1 | c.796-28T>G (n.796-28T>G) c.413-28T>G c.287-28T>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.131860359T= | CA1664259020 | ENPP1 | c.796-28T= (n.796-28T=) c.413-28T= c.287-28T= | |
6 | g.131860360G>A | CA2680367065 | ENPP1 | c.796-27G>A (n.796-27G>A) c.413-27G>A c.287-27G>A | gnomAD v4 |
6 | g.131860361C>A | CA4002012 | ENPP1 | c.796-26C>A (n.796-26C>A) c.413-26C>A c.287-26C>A | dbSNP ExAC gnomAD v3 gnomAD v4 |
6 | g.131860361C= | CA1664259022 | ENPP1 | c.796-26C= (n.796-26C=) c.413-26C= c.287-26C= | |
6 | g.131860362A= | CA1664259025 | ENPP1 | c.796-25A= (n.796-25A=) c.413-25A= c.287-25A= | |
6 | g.131860362A>G | CA819065677 | ENPP1 | c.796-25A>G (n.796-25A>G) c.413-25A>G c.287-25A>G | dbSNP gnomAD v4 |
6 | g.131860362A>T | CA2680367066 | ENPP1 | c.796-25A>T (n.796-25A>T) c.413-25A>T c.287-25A>T | gnomAD v4 |
6 | g.131860363T>G | CA2680367067 | ENPP1 | c.796-24T>G (n.796-24T>G) c.413-24T>G c.287-24T>G | gnomAD v4 |
6 | g.131860363T= | CA1664259027 | ENPP1 | c.796-24T= (n.796-24T=) c.413-24T= c.287-24T= | |
6 | g.131860364A>G | CA2680367068 | ENPP1 | c.796-23A>G (n.796-23A>G) c.413-23A>G c.287-23A>G | gnomAD v4 |
6 | g.131860364dup | CA570098333 | ENPP1 | c.796-23dup (n.796-23dup) c.413-23dup c.287-23dup | dbSNP gnomAD v2 gnomAD v4 |
6 | g.131860366A>G | CA2680367069 | ENPP1 | c.796-21A>G (n.796-21A>G) c.413-21A>G c.287-21A>G | gnomAD v4 |
6 | g.131860367_131860368dup | CA2680367070 | ENPP1 | c.796-20_796-19dup (n.796-20_796-19dup) c.413-20_413-19dup c.287-20_287-19dup | gnomAD v4 |
6 | g.131860369C>A | CA2680367071 | ENPP1 | c.796-18C>A (n.796-18C>A) c.413-18C>A c.287-18C>A | gnomAD v4 |
6 | g.131860375T>C | CA2680367072 | ENPP1 | c.796-12T>C (n.796-12T>C) c.413-12T>C c.287-12T>C | gnomAD v4 |
6 | g.131860376A>G | CA2578742866 | ENPP1 | c.796-11A>G (n.796-11A>G) c.413-11A>G c.287-11A>G | |
6 | g.131860378del | CA2773093866 | ENPP1 | c.796-9del (n.796-9del) c.413-9del c.287-9del | |
6 | g.131860378C>A | CA2680367073 | ENPP1 | c.796-9C>A (n.796-9C>A) c.413-9C>A c.287-9C>A | gnomAD v4 |
6 | g.131860378C= | CA1664259029 | ENPP1 | c.796-9C= (n.796-9C=) c.413-9C= c.287-9C= | |
6 | g.131860378C>T | CA147933653 | ENPP1 | c.796-9C>T (n.796-9C>T) c.413-9C>T c.287-9C>T | dbSNP gnomAD v4 |
6 | g.131860379T>C | CA1664259031 | ENPP1 | c.796-8T>C (n.796-8T>C) c.413-8T>C c.287-8T>C | dbSNP gnomAD v4 |
6 | g.131860379T= | CA1664259032 | ENPP1 | c.796-8T= (n.796-8T=) c.413-8T= c.287-8T= | |
6 | g.131860384dup | CA2680367074 | ENPP1 | c.796-3dup (n.796-3dup) c.413-3dup c.287-3dup | gnomAD v4 |
6 | g.131860384del | CA2680367075 | ENPP1 | c.796-3del (n.796-3del) c.413-3del c.287-3del | gnomAD v4 |
6 | g.131860380T>C | CA2680367076 | ENPP1 | c.796-7T>C (n.796-7T>C) c.413-7T>C c.287-7T>C | gnomAD v4 |
6 | g.131860384T>C | CA1664259035 | ENPP1 | c.796-3T>C (n.796-3T>C) c.413-3T>C c.287-3T>C | dbSNP |
6 | g.131860384T= | CA1664259034 | ENPP1 | c.796-3T= (n.796-3T=) c.413-3T= c.287-3T= | |
6 | g.131860385A>C | CA365667400 | ENPP1 | c.796-2A>C (n.796-2A>C) c.413-2A>C c.287-2A>C | |
6 | g.131860385A>G | CA365667403 | ENPP1 | c.796-2A>G (n.796-2A>G) c.413-2A>G c.287-2A>G | ClinVar |
6 | g.131860385A>T | CA365667406 | ENPP1 | c.796-2A>T (n.796-2A>T) c.413-2A>T c.287-2A>T | |
6 | g.131860386G>A | CA365667413 | ENPP1 | c.796-1G>A (n.796-1G>A) c.413-1G>A c.287-1G>A | |
6 | g.131860386G>C | CA365667418 | ENPP1 | c.796-1G>C (n.796-1G>C) c.413-1G>C c.287-1G>C | |
6 | g.131860386G= | CA1664259038 | ENPP1 | c.796-1G= (n.796-1G=) c.413-1G= c.287-1G= | |
6 | g.131860386G>T | CA4002013 | ENPP1 | c.796-1G>T (n.796-1G>T) c.413-1G>T c.287-1G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.131860387G>A | CA365667423 | ENPP1 | c.796G>A (p.Gly266Arg) c.413G>A c.287G>A | ClinVar dbSNP COSMIC |
6 | g.131860387G>C | CA365667427 | ENPP1 | c.796G>C (p.Gly266Arg) c.413G>C c.287G>C | |
6 | g.131860387G>T | CA365667431 | ENPP1 | c.796G>T (p.Gly266Ter) c.413G>T c.287G>T | gnomAD v4 |
6 | g.131860387_131860388delinsAA | CA645550959 | ENPP1 | c.796_797delinsAA (p.Gly266Lys) c.413_414delinsAA c.287_288delinsAA | COSMIC |
6 | g.131860388G>A | CA365667444 | ENPP1 | c.797G>A (p.Gly266Glu) c.414G>A c.288G>A | |
6 | g.131860388G>C | CA365667448 | ENPP1 | c.797G>C (p.Gly266Ala) c.414G>C c.288G>C | dbSNP gnomAD v3 gnomAD v4 |
6 | g.131860388G= | CA1664259047 | ENPP1 | c.797G= (p.Gly266=) c.414G= c.288G= | |
6 | g.131860388G>T | CA123290 | ENPP1 | c.797G>T (p.Gly266Val) c.414G>T c.288G>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |