Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.69572445_69572449delinsGAAAA | CA1917860201 | NEUROG3 | c.595_599delinsTTTTC (p.Phe199=) | |
10 | g.69572446_69572449del | CA1917860202 | NEUROG3 | c.595_598del (p.Phe199ProfsTer4) | dbSNP |
10 | g.69572449del | CA2609458532 | NEUROG3 | c.598del (p.Ser200ProfsTer4) | gnomAD v4 |
10 | g.69572448A= | CA1917860203 | NEUROG3 | c.596T= (p.Phe199=) | |
10 | g.69572448A>C | CA376921340 | NEUROG3 | c.596T>G (p.Phe199Cys) | |
10 | g.69572448A>G | CA154059 | NEUROG3 | c.596T>C (p.Phe199Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.69572448A>T | CA376921347 | NEUROG3 | c.596T>A (p.Phe199Tyr) | gnomAD v4 |
10 | g.69572449A>C | CA376921352 | NEUROG3 | c.595T>G (p.Phe199Val) | |
10 | g.69572449A>G | CA376921355 | NEUROG3 | c.595T>C (p.Phe199Leu) | gnomAD v4 |
10 | g.69572449A>T | CA376921359 | NEUROG3 | c.595T>A (p.Phe199Ile) | |
10 | g.69572450G>A | CA470276958 | NEUROG3 | c.594C>T (p.Thr198=) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.69572450G>C | CA470276959 | NEUROG3 | c.594C>G (p.Thr198=) | gnomAD v4 |
10 | g.69572450G= | CA1917860204 | NEUROG3 | c.594C= (p.Thr198=) | |
10 | g.69572450G>T | CA470276960 | NEUROG3 | c.594C>A (p.Thr198=) | ClinVar dbSNP gnomAD v4 |
10 | g.69572451G>A | CA376921370 | NEUROG3 | c.593C>T (p.Thr198Ile) | |
10 | g.69572451G>C | CA376921373 | NEUROG3 | c.593C>G (p.Thr198Ser) | |
10 | g.69572451G>T | CA376921378 | NEUROG3 | c.593C>A (p.Thr198Asn) | gnomAD v4 |
10 | g.69572452T>A | CA376921381 | NEUROG3 | c.592A>T (p.Thr198Ser) | gnomAD v4 |
10 | g.69572452T>C | CA376921386 | NEUROG3 | c.592A>G (p.Thr198Ala) | |
10 | g.69572452T>G | CA376921383 | NEUROG3 | c.592A>C (p.Thr198Pro) | |
10 | g.69572453G>A | CA470276966 | NEUROG3 | c.591C>T (p.Ala197=) | dbSNP gnomAD v2 |
10 | g.69572453G>C | CA470276965 | NEUROG3 | c.591C>G (p.Ala197=) | dbSNP |
10 | g.69572453G= | CA1917860205 | NEUROG3 | c.591C= (p.Ala197=) | |
10 | g.69572453G>T | CA5533657 | NEUROG3 | c.591C>A (p.Ala197=) | dbSNP ExAC gnomAD v4 |
10 | g.69572454G>A | CA376921393 | NEUROG3 | c.590C>T (p.Ala197Val) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.69572454G>C | CA376921396 | NEUROG3 | c.590C>G (p.Ala197Gly) | |
10 | g.69572454G= | CA1917860206 | NEUROG3 | c.590C= (p.Ala197=) | |
10 | g.69572454G>T | CA376921399 | NEUROG3 | c.590C>A (p.Ala197Asp) | |
10 | g.69572455C>A | CA376921403 | NEUROG3 | c.589G>T (p.Ala197Ser) | gnomAD v4 |
10 | g.69572455C= | CA1917860207 | NEUROG3 | c.589G= (p.Ala197=) | |
10 | g.69572455C>G | CA376921407 | NEUROG3 | c.589G>C (p.Ala197Pro) | gnomAD v4 |
10 | g.69572455C>T | CA376921411 | NEUROG3 | c.589G>A (p.Ala197Thr) | gnomAD v4 |
10 | g.69572459del | CA2609458533 | NEUROG3 | c.589del (p.Ala197ProfsTer7) | gnomAD v4 |
10 | g.69572455_69572456insT | CA1917860208 | NEUROG3 | c.588_589insA (p.Ala197SerfsTer?) | dbSNP |
10 | g.69572456C>A | CA470276972 | NEUROG3 | c.588G>T (p.Gly196=) | gnomAD v4 |
10 | g.69572456C>G | CA470276974 | NEUROG3 | c.588G>C (p.Gly196=) | |
10 | g.69572456C>T | CA470276975 | NEUROG3 | c.588G>A (p.Gly196=) | gnomAD v4 |
10 | g.69572457C>A | CA376921416 | NEUROG3 | c.587G>T (p.Gly196Val) | gnomAD v4 |
10 | g.69572457C= | CA1917860209 | NEUROG3 | c.587G= (p.Gly196=) | |
10 | g.69572457C>G | CA376921419 | NEUROG3 | c.587G>C (p.Gly196Ala) | |
10 | g.69572457C>T | CA376921423 | NEUROG3 | c.587G>A (p.Gly196Glu) | dbSNP gnomAD v4 |
10 | g.69572458C>A | CA376921426 | NEUROG3 | c.586G>T (p.Gly196Trp) | gnomAD v4 |
10 | g.69572458C= | CA1917860210 | NEUROG3 | c.586G= (p.Gly196=) | |
10 | g.69572458C>G | CA376921430 | NEUROG3 | c.586G>C (p.Gly196Arg) | |
10 | g.69572458C>T | CA376921434 | NEUROG3 | c.586G>A (p.Gly196Arg) | dbSNP |
10 | g.69572459C>A | CA470276977 | NEUROG3 | c.585G>T (p.Leu195=) | |
10 | g.69572459C= | CA1917860212 | NEUROG3 | c.585G= (p.Leu195=) | |
10 | g.69572459C>G | CA470276978 | NEUROG3 | c.585G>C (p.Leu195=) | |
10 | g.69572459C>T | CA5533658 | NEUROG3 | c.585G>A (p.Leu195=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.69572459_69572461delinsCAG | CA1917860211 | NEUROG3 | c.583_585delinsCTG (p.Leu195=) |