Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.30307936_30311263del | CA658653869 | ClinVar | ||
X | g.30308464G>A | CA515946226 | NR0B1 | c.900C>T (p.Ala300=) c.15C>T (p.Ala5=) | |
X | g.30308464G>C | CA515946227 | NR0B1 | c.900C>G (p.Ala300=) c.15C>G (p.Ala5=) | gnomAD v4 |
X | g.30308464G>T | CA515946228 | NR0B1 | c.900C>A (p.Ala300=) c.15C>A (p.Ala5=) | |
X | g.30308465G>A | CA412547377 | NR0B1 | c.899C>T (p.Ala300Val) c.14C>T (p.Ala5Val) | ClinVar |
X | g.30308465G>C | CA412547379 | NR0B1 | c.899C>G (p.Ala300Gly) c.14C>G (p.Ala5Gly) | |
X | g.30308465G>T | CA412547378 | NR0B1 | c.899C>A (p.Ala300Asp) c.14C>A (p.Ala5Asp) | |
X | g.30308466C>A | CA412547380 | NR0B1 | c.898G>T (p.Ala300Ser) c.13G>T (p.Ala5Ser) | |
X | g.30308466C>G | CA412547382 | NR0B1 | c.898G>C (p.Ala300Pro) c.13G>C (p.Ala5Pro) | |
X | g.30308466C>T | CA412547384 | NR0B1 | c.898G>A (p.Ala300Thr) c.13G>A (p.Ala5Thr) | |
X | g.30308467C>A | CA515946230 | NR0B1 | c.897G>T (p.Leu299=) c.12G>T (p.Leu4=) | gnomAD v4 |
X | g.30308467C>G | CA515946232 | NR0B1 | c.897G>C (p.Leu299=) c.12G>C (p.Leu4=) | |
X | g.30308467C>T | CA515946231 | NR0B1 | c.897G>A (p.Leu299=) c.12G>A (p.Leu4=) | ClinVar gnomAD v4 |
X | g.30308468A>C | CA412547386 | NR0B1 | c.896T>G (p.Leu299Arg) c.11T>G (p.Leu4Arg) | |
X | g.30308468A>G | CA412547388 | NR0B1 | c.896T>C (p.Leu299Pro) c.11T>C (p.Leu4Pro) | |
X | g.30308468A>T | CA412547390 | NR0B1 | c.896T>A (p.Leu299Gln) c.11T>A (p.Leu4Gln) | |
X | g.30308468_30308469dup | CA2695232182 | NR0B1 | c.895_896dup (p.Ala300TrpfsTer?) c.10_11dup (p.Ala5TrpfsTer?) | |
X | g.30308469G>A | CA515946235 | NR0B1 | c.895C>T (p.Leu299=) c.10C>T (p.Leu4=) | gnomAD v4 |
X | g.30308469G>C | CA412547391 | NR0B1 | c.895C>G (p.Leu299Val) c.10C>G (p.Leu4Val) | |
X | g.30308469G>T | CA412547392 | NR0B1 | c.895C>A (p.Leu299Met) c.10C>A (p.Leu4Met) | |
X | g.30308470C>A | CA412547394 | NR0B1 | c.894G>T (p.Glu298Asp) c.9G>T (p.Glu3Asp) | gnomAD v4 |
X | g.30308470C= | CA2422040466 | NR0B1 | c.894G= (p.Glu298=) c.9G= (p.Glu3=) | |
X | g.30308470C>G | CA412547396 | NR0B1 | c.894G>C (p.Glu298Asp) c.9G>C (p.Glu3Asp) | |
X | g.30308470C>T | CA515946239 | NR0B1 | c.894G>A (p.Glu298=) c.9G>A (p.Glu3=) | dbSNP gnomAD v2 |
X | g.30308471T>A | CA412547398 | NR0B1 | c.893A>T (p.Glu298Val) c.8A>T (p.Glu3Val) | |
X | g.30308471T>C | CA412547400 | NR0B1 | c.893A>G (p.Glu298Gly) c.8A>G (p.Glu3Gly) | |
X | g.30308471T>G | CA412547403 | NR0B1 | c.893A>C (p.Glu298Ala) c.8A>C (p.Glu3Ala) | |
X | g.30308472C>A | CA412547405 | NR0B1 | c.892G>T (p.Glu298Ter) c.7G>T (p.Glu3Ter) | |
X | g.30308472C>G | CA412547409 | NR0B1 | c.892G>C (p.Glu298Gln) c.7G>C (p.Glu3Gln) | |
X | g.30308472C>T | CA412547407 | NR0B1 | c.892G>A (p.Glu298Lys) c.7G>A (p.Glu3Lys) | gnomAD v4 |
X | g.30308473A= | CA2422040467 | NR0B1 | c.891T= (p.Leu297=) c.6T= (p.Leu2=) | |
X | g.30308473A>C | CA515946244 | NR0B1 | c.891T>G (p.Leu297=) c.6T>G (p.Leu2=) | |
X | g.30308473A>G | CA10376343 | NR0B1 | c.891T>C (p.Leu297=) c.6T>C (p.Leu2=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.30308473A>T | CA515946247 | NR0B1 | c.891T>A (p.Leu297=) c.6T>A (p.Leu2=) | |
X | g.30308474A= | CA2422040468 | NR0B1 | c.890T= (p.Leu297=) c.5T= (p.Leu2=) | |
X | g.30308474A>C | CA412547413 | NR0B1 | c.890T>G (p.Leu297Arg) c.5T>G (p.Leu2Arg) | |
X | g.30308474A>G | CA255642 | NR0B1 | c.890T>C (p.Leu297Pro) c.5T>C (p.Leu2Pro) | ClinVar dbSNP |
X | g.30308474A>T | CA412547414 | NR0B1 | c.890T>A (p.Leu297His) c.5T>A (p.Leu2His) | |
X | g.30308475G>A | CA412547417 | NR0B1 | c.889C>T (p.Leu297Phe) c.4C>T (p.Leu2Phe) | gnomAD v4 |
X | g.30308475G>C | CA412547419 | NR0B1 | c.889C>G (p.Leu297Val) c.4C>G (p.Leu2Val) | gnomAD v4 |
X | g.30308475G>T | CA412547421 | NR0B1 | c.889C>A (p.Leu297Ile) c.4C>A (p.Leu2Ile) | |
X | g.30308476C>A | CA412547424 | NR0B1 | c.888G>T (p.Met296Ile) c.3G>T (p.Met1Ile) | |
X | g.30308476C>G | CA412547426 | NR0B1 | c.888G>C (p.Met296Ile) c.3G>C (p.Met1Ile) | |
X | g.30308476C>T | CA412547427 | NR0B1 | c.888G>A (p.Met296Ile) c.3G>A (p.Met1Ile) | |
X | g.30308477A>C | CA412547432 | NR0B1 | c.887T>G (p.Met296Arg) c.2T>G (p.Met1Arg) | |
X | g.30308477A>G | CA412547431 | NR0B1 | c.887T>C (p.Met296Thr) c.2T>C (p.Met1Thr) | gnomAD v4 |
X | g.30308477A>T | CA412547430 | NR0B1 | c.887T>A (p.Met296Lys) c.2T>A (p.Met1Lys) | |
X | g.30308478T>A | CA412547435 | NR0B1 | c.886A>T (p.Met296Leu) c.1A>T (p.Met1Leu) | |
X | g.30308478T>C | CA412547437 | NR0B1 | c.886A>G (p.Met296Val) c.1A>G (p.Met1Val) | dbSNP gnomAD v3 gnomAD v4 |
X | g.30308478T>G | CA412547439 | NR0B1 | c.886A>C (p.Met296Leu) c.1A>C (p.Met1Leu) | gnomAD v4 |