Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.129532268_129532358dup | CA915941573 | RHO | c.548_638dup (p.Ile214AlafsTer?) | ClinVar dbSNP |
3 | g.129532336_129532344del | CA2579758046 | RHO | c.616_624del (p.Tyr206_Phe208del) | |
3 | g.129532340T>A | CA354469852 | RHO | c.620T>A (p.Met207Lys) | |
3 | g.129532340T>C | CA354469853 | RHO | c.620T>C (p.Met207Thr) | dbSNP gnomAD v4 COSMIC |
3 | g.129532340T>G | CA256686 | RHO | c.620T>G (p.Met207Arg) | ClinVar dbSNP |
3 | g.129532340T= | CA1401211196 | RHO | c.620T= (p.Met207=) | |
3 | g.129532341G>A | CA354469856 | RHO | c.621G>A (p.Met207Ile) | gnomAD v4 |
3 | g.129532341G>C | CA354469857 | RHO | c.621G>C (p.Met207Ile) | |
3 | g.129532341G>T | CA354469858 | RHO | c.621G>T (p.Met207Ile) | gnomAD v4 |
3 | g.129532342T>A | CA354469861 | RHO | c.622T>A (p.Phe208Ile) | COSMIC |
3 | g.129532342T>C | CA354469863 | RHO | c.622T>C (p.Phe208Leu) | |
3 | g.129532342T>G | CA354469860 | RHO | c.622T>G (p.Phe208Val) | |
3 | g.129532343T>A | CA354469868 | RHO | c.623T>A (p.Phe208Tyr) | |
3 | g.129532343T>C | CA354469865 | RHO | c.623T>C (p.Phe208Ser) | |
3 | g.129532343T>G | CA354469867 | RHO | c.623T>G (p.Phe208Cys) | dbSNP |
3 | g.129532344C>A | CA354469870 | RHO | c.624C>A (p.Phe208Leu) | gnomAD v4 |
3 | g.129532344C= | CA1401211202 | RHO | c.624C= (p.Phe208=) | |
3 | g.129532344C>G | CA2607223 | RHO | c.624C>G (p.Phe208Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.129532344C>T | CA2607222 | RHO | c.624C>T (p.Phe208=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.129532345G>A | CA2607224 | RHO | c.625G>A (p.Val209Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.129532345G>C | CA354469872 | RHO | c.625G>C (p.Val209Leu) | |
3 | g.129532345G= | CA1401211210 | RHO | c.625G= (p.Val209=) | |
3 | g.129532345G>T | CA354469873 | RHO | c.625G>T (p.Val209Leu) | |
3 | g.129532346T>A | CA354469875 | RHO | c.626T>A (p.Val209Glu) | |
3 | g.129532346T>C | CA354469877 | RHO | c.626T>C (p.Val209Ala) | |
3 | g.129532346T>G | CA354469878 | RHO | c.626T>G (p.Val209Gly) | |
3 | g.129532347G>A | CA435768984 | RHO | c.627G>A (p.Val209=) | |
3 | g.129532347G>C | CA435768985 | RHO | c.627G>C (p.Val209=) | |
3 | g.129532347G= | CA1401211213 | RHO | c.627G= (p.Val209=) | |
3 | g.129532347G>T | CA435768986 | RHO | c.627G>T (p.Val209=) | dbSNP gnomAD v2 |
3 | g.129532348G>A | CA2607226 | RHO | c.628G>A (p.Val210Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.129532348G>C | CA354469881 | RHO | c.628G>C (p.Val210Leu) | |
3 | g.129532348G= | CA1401211218 | RHO | c.628G= (p.Val210=) | |
3 | g.129532348G>T | CA2607225 | RHO | c.628G>T (p.Val210Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.129532349T>A | CA354469883 | RHO | c.629T>A (p.Val210Asp) | |
3 | g.129532349T>C | CA354469884 | RHO | c.629T>C (p.Val210Ala) | |
3 | g.129532349T>G | CA354469886 | RHO | c.629T>G (p.Val210Gly) | |
3 | g.129532350C>A | CA435768992 | RHO | c.630C>A (p.Val210=) | |
3 | g.129532350C= | CA1401211223 | RHO | c.630C= (p.Val210=) | |
3 | g.129532350C>G | CA435768994 | RHO | c.630C>G (p.Val210=) | gnomAD v4 |
3 | g.129532350C>T | CA2607227 | RHO | c.630C>T (p.Val210=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.129532351C>A | CA354469888 | RHO | c.631C>A (p.His211Asn) | |
3 | g.129532351C= | CA1401211228 | RHO | c.631C= (p.His211=) | |
3 | g.129532351C>G | CA354469890 | RHO | c.631C>G (p.His211Asp) | |
3 | g.129532351C>T | CA354469892 | RHO | c.631C>T (p.His211Tyr) | ClinVar dbSNP |
3 | g.129532352A= | CA1401211236 | RHO | c.632A= (p.His211=) | |
3 | g.129532352A>C | CA256674 | RHO | c.632A>C (p.His211Pro) | ClinVar dbSNP |
3 | g.129532352A>G | CA354469894 | RHO | c.632A>G (p.His211Arg) | ClinVar dbSNP |
3 | g.129532352A>T | CA354469895 | RHO | c.632A>T (p.His211Leu) | |
3 | g.129532353C>A | CA354469897 | RHO | c.633C>A (p.His211Gln) |