Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.115683980T>A | CA341764639 | VANGL1 | c.983T>A (p.Met328Lys) c.977T>A (p.Met326Lys) n.365T>A n.267T>A | |
1 | g.115683980T>C | CA114943 | VANGL1 | c.983T>C (p.Met328Thr) c.977T>C (p.Met326Thr) n.365T>C n.267T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.115683980T>G | CA341764640 | VANGL1 | c.983T>G (p.Met328Arg) c.977T>G (p.Met326Arg) n.365T>G n.267T>G | |
1 | g.115683980T= | CA1141580999 | VANGL1 | c.983T= (p.Met328=) c.977T= (p.Met326=) n.365T= n.267T= | |
1 | g.115683981G>A | CA1023390 | VANGL1 | c.984G>A (p.Met328Ile) c.978G>A (p.Met326Ile) n.366G>A n.268G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.115683981G>C | CA341764641 | VANGL1 | c.984G>C (p.Met328Ile) c.978G>C (p.Met326Ile) n.366G>C n.268G>C | |
1 | g.115683981G= | CA1190705865 | VANGL1 | c.984G= (p.Met328=) c.978G= (p.Met326=) n.366G= n.268G= | |
1 | g.115683981G>T | CA341764642 | VANGL1 | c.984G>T (p.Met328Ile) c.978G>T (p.Met326Ile) n.366G>T n.268G>T | |
1 | g.115683982A>C | CA341764644 | VANGL1 | c.985A>C (p.Ile329Leu) c.979A>C (p.Ile327Leu) n.367A>C n.269A>C | |
1 | g.115683982A>G | CA341764645 | VANGL1 | c.985A>G (p.Ile329Val) c.979A>G (p.Ile327Val) n.367A>G n.269A>G | |
1 | g.115683982A>T | CA341764643 | VANGL1 | c.985A>T (p.Ile329Phe) c.979A>T (p.Ile327Phe) n.367A>T n.269A>T | |
1 | g.115683982_115683983dup | CA2574036978 | VANGL1 | c.985_986dup (p.Ala330LeufsTer26) c.979_980dup (p.Ala328LeufsTer26) n.367_368dup n.269_270dup | |
1 | g.115683983T>A | CA341764646 | VANGL1 | c.986T>A (p.Ile329Asn) c.980T>A (p.Ile327Asn) n.368T>A n.270T>A | |
1 | g.115683983T>C | CA341764647 | VANGL1 | c.986T>C (p.Ile329Thr) c.980T>C (p.Ile327Thr) n.368T>C n.270T>C | |
1 | g.115683983T>G | CA341764648 | VANGL1 | c.986T>G (p.Ile329Ser) c.980T>G (p.Ile327Ser) n.368T>G n.270T>G | |
1 | g.115683984T>A | CA419892598 | VANGL1 | c.987T>A (p.Ile329=) c.981T>A (p.Ile327=) n.369T>A n.271T>A | |
1 | g.115683984T>C | CA419892599 | VANGL1 | c.987T>C (p.Ile329=) c.981T>C (p.Ile327=) n.369T>C n.271T>C | |
1 | g.115683984T>G | CA341764649 | VANGL1 | c.987T>G (p.Ile329Met) c.981T>G (p.Ile327Met) n.369T>G n.271T>G | |
1 | g.115683985G>A | CA341764651 | VANGL1 | c.988G>A (p.Ala330Thr) c.982G>A (p.Ala328Thr) n.370G>A n.272G>A | |
1 | g.115683985G>C | CA1023391 | VANGL1 | c.988G>C (p.Ala330Pro) c.982G>C (p.Ala328Pro) n.370G>C n.272G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.115683985G= | CA1190705866 | VANGL1 | c.988G= (p.Ala330=) c.982G= (p.Ala328=) n.370G= n.272G= | |
1 | g.115683985G>T | CA341764650 | VANGL1 | c.988G>T (p.Ala330Ser) c.982G>T (p.Ala328Ser) n.370G>T n.272G>T | |
1 | g.115683986C>A | CA1023392 | VANGL1 | c.989C>A (p.Ala330Asp) c.983C>A (p.Ala328Asp) n.371C>A n.273C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.115683986C= | CA1190705867 | VANGL1 | c.989C= (p.Ala330=) c.983C= (p.Ala328=) n.371C= n.273C= | |
1 | g.115683986C>G | CA341764652 | VANGL1 | c.989C>G (p.Ala330Gly) c.983C>G (p.Ala328Gly) n.371C>G n.273C>G | |
1 | g.115683986C>T | CA341764653 | VANGL1 | c.989C>T (p.Ala330Val) c.983C>T (p.Ala328Val) n.371C>T n.273C>T | gnomAD v4 |
1 | g.115683987T>A | CA419892601 | VANGL1 | c.990T>A (p.Ala330=) c.984T>A (p.Ala328=) n.372T>A n.274T>A | |
1 | g.115683987T>C | CA29589551 | VANGL1 | c.990T>C (p.Ala330=) c.984T>C (p.Ala328=) n.372T>C n.274T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.115683987T>G | CA419892600 | VANGL1 | c.990T>G (p.Ala330=) c.984T>G (p.Ala328=) n.372T>G n.274T>G | |
1 | g.115683987T= | CA1190705868 | VANGL1 | c.990T= (p.Ala330=) c.984T= (p.Ala328=) n.372T= n.274T= | |
1 | g.115683988G>A | CA341764654 | VANGL1 | c.991G>A (p.Ala331Thr) c.985G>A (p.Ala329Thr) n.373G>A n.275G>A | gnomAD v4 |
1 | g.115683988G>C | CA341764655 | VANGL1 | c.991G>C (p.Ala331Pro) c.985G>C (p.Ala329Pro) n.373G>C n.275G>C | |
1 | g.115683988G= | CA1190705869 | VANGL1 | c.991G= (p.Ala331=) c.985G= (p.Ala329=) n.373G= n.275G= | |
1 | g.115683988G>T | CA1023393 | VANGL1 | c.991G>T (p.Ala331Ser) c.985G>T (p.Ala329Ser) n.373G>T n.275G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.115683989C>A | CA341764657 | VANGL1 | c.992C>A (p.Ala331Glu) c.986C>A (p.Ala329Glu) n.374C>A n.276C>A | |
1 | g.115683989C= | CA1190705870 | VANGL1 | c.992C= (p.Ala331=) c.986C= (p.Ala329=) n.374C= n.276C= | |
1 | g.115683989C>G | CA341764656 | VANGL1 | c.992C>G (p.Ala331Gly) c.986C>G (p.Ala329Gly) n.374C>G n.276C>G | |
1 | g.115683989C>T | CA1023394 | VANGL1 | c.992C>T (p.Ala331Val) c.986C>T (p.Ala329Val) n.374C>T n.276C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.115683990A>C | CA419892602 | VANGL1 | c.993A>C (p.Ala331=) c.987A>C (p.Ala329=) n.375A>C n.277A>C | |
1 | g.115683990A>G | CA419892604 | VANGL1 | c.993A>G (p.Ala331=) c.987A>G (p.Ala329=) n.375A>G n.277A>G | |
1 | g.115683990A>T | CA419892603 | VANGL1 | c.993A>T (p.Ala331=) c.987A>T (p.Ala329=) n.375A>T n.277A>T | |
1 | g.115683991G>A | CA341764658 | VANGL1 | c.994G>A (p.Ala332Thr) c.988G>A (p.Ala330Thr) n.376G>A n.278G>A | |
1 | g.115683991G>C | CA341764660 | VANGL1 | c.994G>C (p.Ala332Pro) c.988G>C (p.Ala330Pro) n.376G>C n.278G>C | |
1 | g.115683991G>T | CA341764659 | VANGL1 | c.994G>T (p.Ala332Ser) c.988G>T (p.Ala330Ser) n.376G>T n.278G>T | |
1 | g.115683992C>A | CA341764661 | VANGL1 | c.995C>A (p.Ala332Asp) c.989C>A (p.Ala330Asp) n.377C>A n.279C>A | gnomAD v4 |
1 | g.115683992C>G | CA341764663 | VANGL1 | c.995C>G (p.Ala332Gly) c.989C>G (p.Ala330Gly) n.377C>G n.279C>G | |
1 | g.115683992C>T | CA341764662 | VANGL1 | c.995C>T (p.Ala332Val) c.989C>T (p.Ala330Val) n.377C>T n.279C>T | gnomAD v4 |
1 | g.115683993T>A | CA419892605 | VANGL1 | c.996T>A (p.Ala332=) c.990T>A (p.Ala330=) n.378T>A n.280T>A | |
1 | g.115683993T>C | CA419892606 | VANGL1 | c.996T>C (p.Ala332=) c.990T>C (p.Ala330=) n.378T>C n.280T>C | gnomAD v4 |
1 | g.115683993T>G | CA419892607 | VANGL1 | c.996T>G (p.Ala332=) c.990T>G (p.Ala330=) n.378T>G n.280T>G |