Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.30307936_30311263del | CA658653869 | ClinVar | ||
X | g.30308610_30308618del | CA2529980778 | NR0B1 | c.748_756del (p.Ser250_Gln252del) | |
X | g.30308617_30308619delinsCTT | CA2422040498 | NR0B1 | c.745_747delinsAAG (p.Lys249=) | |
X | g.30308618T>A | CA412547977 | NR0B1 | c.746A>T (p.Lys249Met) | |
X | g.30308618T>C | CA412547976 | NR0B1 | c.746A>G (p.Lys249Arg) | |
X | g.30308618T>G | CA412547975 | NR0B1 | c.746A>C (p.Lys249Thr) | |
X | g.30308618_30308619del | CA16621356 | NR0B1 | c.745_746del (p.Lys249GlufsTer?) | ClinVar dbSNP |
X | g.30308619T>A | CA412547978 | NR0B1 | c.745A>T (p.Lys249Ter) | |
X | g.30308619T>C | CA412547979 | NR0B1 | c.745A>G (p.Lys249Glu) | gnomAD v4 |
X | g.30308619T>G | CA412547980 | NR0B1 | c.745A>C (p.Lys249Gln) | |
X | g.30308620G>A | CA515946182 | NR0B1 | c.744C>T (p.Leu248=) | |
X | g.30308620G>C | CA515946183 | NR0B1 | c.744C>G (p.Leu248=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
X | g.30308620G= | CA2422040499 | NR0B1 | c.744C= (p.Leu248=) | |
X | g.30308620G>T | CA515946184 | NR0B1 | c.744C>A (p.Leu248=) | |
X | g.30308621A= | CA2422040500 | NR0B1 | c.743T= (p.Leu248=) | |
X | g.30308621A>C | CA412547981 | NR0B1 | c.743T>G (p.Leu248Arg) | gnomAD v4 |
X | g.30308621A>G | CA412547982 | NR0B1 | c.743T>C (p.Leu248Pro) | dbSNP |
X | g.30308621A>T | CA412547983 | NR0B1 | c.743T>A (p.Leu248His) | |
X | g.30308622G>A | CA412547984 | NR0B1 | c.742C>T (p.Leu248Phe) | |
X | g.30308622G>C | CA412547985 | NR0B1 | c.742C>G (p.Leu248Val) | |
X | g.30308622G>T | CA412547986 | NR0B1 | c.742C>A (p.Leu248Ile) | |
X | g.30308623C>A | CA515946189 | NR0B1 | c.741G>T (p.Ala247=) | |
X | g.30308623C>G | CA515946190 | NR0B1 | c.741G>C (p.Ala247=) | |
X | g.30308623C>T | CA515946193 | NR0B1 | c.741G>A (p.Ala247=) | |
X | g.30308624G>A | CA10376357 | NR0B1 | c.740C>T (p.Ala247Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.30308624G>C | CA412547987 | NR0B1 | c.740C>G (p.Ala247Gly) | |
X | g.30308624G= | CA2422040501 | NR0B1 | c.740C= (p.Ala247=) | |
X | g.30308624G>T | CA412547988 | NR0B1 | c.740C>A (p.Ala247Glu) | ClinVar gnomAD v4 |
X | g.30308627_30308633del | CA2695232199 | NR0B1 | c.734_740del (p.Pro245ArgfsTer17) | |
X | g.30308625C>A | CA412547991 | NR0B1 | c.739G>T (p.Ala247Ser) | |
X | g.30308625C>G | CA412547989 | NR0B1 | c.739G>C (p.Ala247Pro) | |
X | g.30308625C>T | CA412547990 | NR0B1 | c.739G>A (p.Ala247Thr) | |
X | g.30308626C>A | CA515946201 | NR0B1 | c.738G>T (p.Val246=) | |
X | g.30308626C= | CA2422040502 | NR0B1 | c.738G= (p.Val246=) | |
X | g.30308626C>G | CA515946196 | NR0B1 | c.738G>C (p.Val246=) | |
X | g.30308626C>T | CA515946195 | NR0B1 | c.738G>A (p.Val246=) | dbSNP gnomAD v2 gnomAD v4 |
X | g.30308627A>C | CA412547992 | NR0B1 | c.737T>G (p.Val246Gly) | |
X | g.30308627A>G | CA412547993 | NR0B1 | c.737T>C (p.Val246Ala) | |
X | g.30308627A>T | CA412547994 | NR0B1 | c.737T>A (p.Val246Glu) | |
X | g.30308628C>A | CA412547995 | NR0B1 | c.736G>T (p.Val246Leu) | |
X | g.30308628C>G | CA412547996 | NR0B1 | c.736G>C (p.Val246Leu) | |
X | g.30308628C>T | CA412547997 | NR0B1 | c.736G>A (p.Val246Met) | |
X | g.30308629C>A | CA515946207 | NR0B1 | c.735G>T (p.Pro245=) | gnomAD v4 |
X | g.30308629C= | CA2422040503 | NR0B1 | c.735G= (p.Pro245=) | |
X | g.30308629C>G | CA327976047 | NR0B1 | c.735G>C (p.Pro245=) | dbSNP gnomAD v3 gnomAD v4 |
X | g.30308629C>T | CA515946206 | NR0B1 | c.735G>A (p.Pro245=) | ClinVar gnomAD v4 COSMIC COSMIC |
X | g.30308629_30308630insAGA | CA2693386447 | NR0B1 | c.734_735insTCT (p.Pro245_Val246insLeu) | gnomAD v4 |
X | g.30308630G>A | CA412547998 | NR0B1 | c.734C>T (p.Pro245Leu) | dbSNP gnomAD v2 gnomAD v4 |
X | g.30308630G>C | CA412547999 | NR0B1 | c.734C>G (p.Pro245Arg) | dbSNP gnomAD v4 |
X | g.30308630G= | CA2422040504 | NR0B1 | c.734C= (p.Pro245=) |