UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.58010608dup | CA7584071 | ALDH1A2 | c.493+42dup (n.493+42dup) c.*467+42dup (n.*467+42dup) c.430+42dup (n.430+42dup) c.406+42dup (n.406+42dup) n.318+3251dup c.205+42dup (n.205+42dup) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.58010608G>C | CA714257814 | ALDH1A2 | c.493+41C>G (n.493+41C>G) c.*467+41C>G (n.*467+41C>G) c.430+41C>G (n.430+41C>G) c.406+41C>G (n.406+41C>G) n.318+3250C>G c.205+41C>G (n.205+41C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.58010608G= | CA2180113988 | ALDH1A2 | c.493+41C= (n.493+41C=) c.*467+41C= (n.*467+41C=) c.430+41C= (n.430+41C=) c.406+41C= (n.406+41C=) n.318+3250C= c.205+41C= (n.205+41C=) | |
| 15 | g.58010609T>G | CA7584073 | ALDH1A2 | c.493+40A>C (n.493+40A>C) c.*467+40A>C (n.*467+40A>C) c.430+40A>C (n.430+40A>C) c.406+40A>C (n.406+40A>C) n.318+3249A>C c.205+40A>C (n.205+40A>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.58010609T= | CA2180113990 | ALDH1A2 | c.493+40A= (n.493+40A=) c.*467+40A= (n.*467+40A=) c.430+40A= (n.430+40A=) c.406+40A= (n.406+40A=) n.318+3249A= c.205+40A= (n.205+40A=) | |
| 15 | g.58010610T>C | CA2628668922 | ALDH1A2 | c.493+39A>G (n.493+39A>G) c.*467+39A>G (n.*467+39A>G) c.430+39A>G (n.430+39A>G) c.406+39A>G (n.406+39A>G) n.318+3248A>G c.205+39A>G (n.205+39A>G) | dbSNP gnomAD v4 |
| 15 | g.58010611T>C | CA2575740371 | ALDH1A2 | c.493+38A>G (n.493+38A>G) c.*467+38A>G (n.*467+38A>G) c.430+38A>G (n.430+38A>G) c.406+38A>G (n.406+38A>G) n.318+3247A>G c.205+38A>G (n.205+38A>G) | |
| 15 | g.58010611T>G | CA2628668923 | ALDH1A2 | c.493+38A>C (n.493+38A>C) c.*467+38A>C (n.*467+38A>C) c.430+38A>C (n.430+38A>C) c.406+38A>C (n.406+38A>C) n.318+3247A>C c.205+38A>C (n.205+38A>C) | gnomAD v4 |
| 15 | g.58010614C>A | CA714257818 | ALDH1A2 | c.493+35G>T (n.493+35G>T) c.*467+35G>T (n.*467+35G>T) c.430+35G>T (n.430+35G>T) c.406+35G>T (n.406+35G>T) n.318+3244G>T c.205+35G>T (n.205+35G>T) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.58010614C= | CA2180113992 | ALDH1A2 | c.493+35G= (n.493+35G=) c.*467+35G= (n.*467+35G=) c.430+35G= (n.430+35G=) c.406+35G= (n.406+35G=) n.318+3244G= c.205+35G= (n.205+35G=) | |
| 15 | g.58010614C>G | CA2628668924 | ALDH1A2 | c.493+35G>C (n.493+35G>C) c.*467+35G>C (n.*467+35G>C) c.430+35G>C (n.430+35G>C) c.406+35G>C (n.406+35G>C) n.318+3244G>C c.205+35G>C (n.205+35G>C) | gnomAD v4 |
| 15 | g.58010614C>T | CA7584074 | ALDH1A2 | c.493+35G>A (n.493+35G>A) c.*467+35G>A (n.*467+35G>A) c.430+35G>A (n.430+35G>A) c.406+35G>A (n.406+35G>A) n.318+3244G>A c.205+35G>A (n.205+35G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.58010615G>A | CA7584075 | ALDH1A2 | c.493+34C>T (n.493+34C>T) c.*467+34C>T (n.*467+34C>T) c.430+34C>T (n.430+34C>T) c.406+34C>T (n.406+34C>T) n.318+3243C>T c.205+34C>T (n.205+34C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.58010615G= | CA2180113995 | ALDH1A2 | c.493+34C= (n.493+34C=) c.*467+34C= (n.*467+34C=) c.430+34C= (n.430+34C=) c.406+34C= (n.406+34C=) n.318+3243C= c.205+34C= (n.205+34C=) | |
| 15 | g.58010616T>C | CA7584076 | ALDH1A2 | c.493+33A>G (n.493+33A>G) c.*467+33A>G (n.*467+33A>G) c.430+33A>G (n.430+33A>G) c.406+33A>G (n.406+33A>G) n.318+3242A>G c.205+33A>G (n.205+33A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.58010616T= | CA2180113999 | ALDH1A2 | c.493+33A= (n.493+33A=) c.*467+33A= (n.*467+33A=) c.430+33A= (n.430+33A=) c.406+33A= (n.406+33A=) n.318+3242A= c.205+33A= (n.205+33A=) | |
| 15 | g.58010617T>C | CA7584077 | ALDH1A2 | c.493+32A>G (n.493+32A>G) c.*467+32A>G (n.*467+32A>G) c.430+32A>G (n.430+32A>G) c.406+32A>G (n.406+32A>G) n.318+3241A>G c.205+32A>G (n.205+32A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.58010617T= | CA2180114001 | ALDH1A2 | c.493+32A= (n.493+32A=) c.*467+32A= (n.*467+32A=) c.430+32A= (n.430+32A=) c.406+32A= (n.406+32A=) n.318+3241A= c.205+32A= (n.205+32A=) | |
| 15 | g.58010618T>C | CA271346379 | ALDH1A2 | c.493+31A>G (n.493+31A>G) c.*467+31A>G (n.*467+31A>G) c.430+31A>G (n.430+31A>G) c.406+31A>G (n.406+31A>G) n.318+3240A>G c.205+31A>G (n.205+31A>G) | dbSNP |
| 15 | g.58010618T= | CA2180114003 | ALDH1A2 | c.493+31A= (n.493+31A=) c.*467+31A= (n.*467+31A=) c.430+31A= (n.430+31A=) c.406+31A= (n.406+31A=) n.318+3240A= c.205+31A= (n.205+31A=) | |
| 15 | g.58010620C>G | CA2575740372 | ALDH1A2 | c.493+29G>C (n.493+29G>C) c.*467+29G>C (n.*467+29G>C) c.430+29G>C (n.430+29G>C) c.406+29G>C (n.406+29G>C) n.318+3238G>C c.205+29G>C (n.205+29G>C) | |
| 15 | g.58010620C>T | CA656168265 | ALDH1A2 | c.493+29G>A (n.493+29G>A) c.*467+29G>A (n.*467+29G>A) c.430+29G>A (n.430+29G>A) c.406+29G>A (n.406+29G>A) n.318+3238G>A c.205+29G>A (n.205+29G>A) | |
| 15 | g.58010625T>C | CA618390966 | ALDH1A2 | c.493+24A>G (n.493+24A>G) c.*467+24A>G (n.*467+24A>G) c.430+24A>G (n.430+24A>G) c.406+24A>G (n.406+24A>G) n.318+3233A>G c.205+24A>G (n.205+24A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.58010625T= | CA2180114006 | ALDH1A2 | c.493+24A= (n.493+24A=) c.*467+24A= (n.*467+24A=) c.430+24A= (n.430+24A=) c.406+24A= (n.406+24A=) n.318+3233A= c.205+24A= (n.205+24A=) | |
| 15 | g.58010626C= | CA2180114009 | ALDH1A2 | c.493+23G= (n.493+23G=) c.*467+23G= (n.*467+23G=) c.430+23G= (n.430+23G=) c.406+23G= (n.406+23G=) n.318+3232G= c.205+23G= (n.205+23G=) | |
| 15 | g.58010626C>G | CA656168266 | ALDH1A2 | c.493+23G>C (n.493+23G>C) c.*467+23G>C (n.*467+23G>C) c.430+23G>C (n.430+23G>C) c.406+23G>C (n.406+23G>C) n.318+3232G>C c.205+23G>C (n.205+23G>C) | COSMIC |
| 15 | g.58010626C>T | CA7584078 | ALDH1A2 | c.493+23G>A (n.493+23G>A) c.*467+23G>A (n.*467+23G>A) c.430+23G>A (n.430+23G>A) c.406+23G>A (n.406+23G>A) n.318+3232G>A c.205+23G>A (n.205+23G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.58010627A= | CA2180114011 | ALDH1A2 | c.493+22T= (n.493+22T=) c.*467+22T= (n.*467+22T=) c.430+22T= (n.430+22T=) c.406+22T= (n.406+22T=) n.318+3231T= c.205+22T= (n.205+22T=) | |
| 15 | g.58010627A>G | CA618390972 | ALDH1A2 | c.493+22T>C (n.493+22T>C) c.*467+22T>C (n.*467+22T>C) c.430+22T>C (n.430+22T>C) c.406+22T>C (n.406+22T>C) n.318+3231T>C c.205+22T>C (n.205+22T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.58010629C>A | CA2628668925 | ALDH1A2 | c.493+20G>T (n.493+20G>T) c.*467+20G>T (n.*467+20G>T) c.430+20G>T (n.430+20G>T) c.406+20G>T (n.406+20G>T) n.318+3229G>T c.205+20G>T (n.205+20G>T) | gnomAD v4 |
| 15 | g.58010629C= | CA2180114015 | ALDH1A2 | c.493+20G= (n.493+20G=) c.*467+20G= (n.*467+20G=) c.430+20G= (n.430+20G=) c.406+20G= (n.406+20G=) n.318+3229G= c.205+20G= (n.205+20G=) | |
| 15 | g.58010629C>G | CA2628668926 | ALDH1A2 | c.493+20G>C (n.493+20G>C) c.*467+20G>C (n.*467+20G>C) c.430+20G>C (n.430+20G>C) c.406+20G>C (n.406+20G>C) n.318+3229G>C c.205+20G>C (n.205+20G>C) | gnomAD v4 |
| 15 | g.58010629C>T | CA7584079 | ALDH1A2 | c.493+20G>A (n.493+20G>A) c.*467+20G>A (n.*467+20G>A) c.430+20G>A (n.430+20G>A) c.406+20G>A (n.406+20G>A) n.318+3229G>A c.205+20G>A (n.205+20G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.58010630G>A | CA7584080 | ALDH1A2 | c.493+19C>T (n.493+19C>T) c.*467+19C>T (n.*467+19C>T) c.430+19C>T (n.430+19C>T) c.406+19C>T (n.406+19C>T) n.318+3228C>T c.205+19C>T (n.205+19C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.58010630G>C | CA2628668927 | ALDH1A2 | c.493+19C>G (n.493+19C>G) c.*467+19C>G (n.*467+19C>G) c.430+19C>G (n.430+19C>G) c.406+19C>G (n.406+19C>G) n.318+3228C>G c.205+19C>G (n.205+19C>G) | gnomAD v4 |
| 15 | g.58010630G= | CA2180114017 | ALDH1A2 | c.493+19C= (n.493+19C=) c.*467+19C= (n.*467+19C=) c.430+19C= (n.430+19C=) c.406+19C= (n.406+19C=) n.318+3228C= c.205+19C= (n.205+19C=) | |
| 15 | g.58010633C= | CA2180114020 | ALDH1A2 | c.493+16G= (n.493+16G=) c.*467+16G= (n.*467+16G=) c.430+16G= (n.430+16G=) c.406+16G= (n.406+16G=) n.318+3225G= c.205+16G= (n.205+16G=) | |
| 15 | g.58010633C>G | CA7584081 | ALDH1A2 | c.493+16G>C (n.493+16G>C) c.*467+16G>C (n.*467+16G>C) c.430+16G>C (n.430+16G>C) c.406+16G>C (n.406+16G>C) n.318+3225G>C c.205+16G>C (n.205+16G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.58010634T>C | CA618390982 | ALDH1A2 | c.493+15A>G (n.493+15A>G) c.*467+15A>G (n.*467+15A>G) c.430+15A>G (n.430+15A>G) c.406+15A>G (n.406+15A>G) n.318+3224A>G c.205+15A>G (n.205+15A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.58010634T= | CA2180114022 | ALDH1A2 | c.493+15A= (n.493+15A=) c.*467+15A= (n.*467+15A=) c.430+15A= (n.430+15A=) c.406+15A= (n.406+15A=) n.318+3224A= c.205+15A= (n.205+15A=) | |
| 15 | g.58010635C= | CA2180114025 | ALDH1A2 | c.493+14G= (n.493+14G=) c.*467+14G= (n.*467+14G=) c.430+14G= (n.430+14G=) c.406+14G= (n.406+14G=) n.318+3223G= c.205+14G= (n.205+14G=) | |
| 15 | g.58010635C>G | CA2628668928 | ALDH1A2 | c.493+14G>C (n.493+14G>C) c.*467+14G>C (n.*467+14G>C) c.430+14G>C (n.430+14G>C) c.406+14G>C (n.406+14G>C) n.318+3223G>C c.205+14G>C (n.205+14G>C) | gnomAD v4 |
| 15 | g.58010635C>T | CA618390985 | ALDH1A2 | c.493+14G>A (n.493+14G>A) c.*467+14G>A (n.*467+14G>A) c.430+14G>A (n.430+14G>A) c.406+14G>A (n.406+14G>A) n.318+3223G>A c.205+14G>A (n.205+14G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.58010637G>T | CA656168271 | ALDH1A2 | c.493+12C>A (n.493+12C>A) c.*467+12C>A (n.*467+12C>A) c.430+12C>A (n.430+12C>A) c.406+12C>A (n.406+12C>A) n.318+3221C>A c.205+12C>A (n.205+12C>A) | gnomAD v4 COSMIC |
| 15 | g.58010640T>A | CA2628668929 | ALDH1A2 | c.493+9A>T (n.493+9A>T) c.*467+9A>T (n.*467+9A>T) c.430+9A>T (n.430+9A>T) c.406+9A>T (n.406+9A>T) n.318+3218A>T c.205+9A>T (n.205+9A>T) | gnomAD v4 |
| 15 | g.58010644C>A | CA2628668930 | ALDH1A2 | c.493+5G>T (n.493+5G>T) c.*467+5G>T (n.*467+5G>T) c.430+5G>T (n.430+5G>T) c.406+5G>T (n.406+5G>T) n.318+3214G>T c.205+5G>T (n.205+5G>T) | gnomAD v4 |
| 15 | g.58010644C>T | CA2628668931 | ALDH1A2 | c.493+5G>A (n.493+5G>A) c.*467+5G>A (n.*467+5G>A) c.430+5G>A (n.430+5G>A) c.406+5G>A (n.406+5G>A) n.318+3214G>A c.205+5G>A (n.205+5G>A) | gnomAD v4 |
| 15 | g.58010645A= | CA2180114027 | ALDH1A2 | c.493+4T= (n.493+4T=) c.*467+4T= (n.*467+4T=) c.430+4T= (n.430+4T=) c.406+4T= (n.406+4T=) n.318+3213T= c.205+4T= (n.205+4T=) | |
| 15 | g.58010645A>G | CA7584082 | ALDH1A2 | c.493+4T>C (n.493+4T>C) c.*467+4T>C (n.*467+4T>C) c.430+4T>C (n.430+4T>C) c.406+4T>C (n.406+4T>C) n.318+3213T>C c.205+4T>C (n.205+4T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.58010646T>C | CA2575740373 | ALDH1A2 | c.493+3A>G (n.493+3A>G) c.*467+3A>G (n.*467+3A>G) c.430+3A>G (n.430+3A>G) c.406+3A>G (n.406+3A>G) n.318+3212A>G c.205+3A>G (n.205+3A>G) | |
| 15 | g.58010646dup | CA618390990 | ALDH1A2 | c.493+3dup (n.493+3dup) c.*467+3dup (n.*467+3dup) c.430+3dup (n.430+3dup) c.406+3dup (n.406+3dup) n.318+3212dup c.205+3dup (n.205+3dup) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.58010647A= | CA2180114031 | ALDH1A2 | c.493+2T= (n.493+2T=) c.*467+2T= (n.*467+2T=) c.430+2T= (n.430+2T=) c.406+2T= (n.406+2T=) n.318+3211T= c.205+2T= (n.205+2T=) | |
| 15 | g.58010647A>C | CA392789865 | ALDH1A2 | c.493+2T>G (n.493+2T>G) c.*467+2T>G (n.*467+2T>G) c.430+2T>G (n.430+2T>G) c.406+2T>G (n.406+2T>G) n.318+3211T>G c.205+2T>G (n.205+2T>G) | dbSNP |
| 15 | g.58010647A>G | CA392789866 | ALDH1A2 | c.493+2T>C (n.493+2T>C) c.*467+2T>C (n.*467+2T>C) c.430+2T>C (n.430+2T>C) c.406+2T>C (n.406+2T>C) n.318+3211T>C c.205+2T>C (n.205+2T>C) | gnomAD v4 |
| 15 | g.58010647A>T | CA392789867 | ALDH1A2 | c.493+2T>A (n.493+2T>A) c.*467+2T>A (n.*467+2T>A) c.430+2T>A (n.430+2T>A) c.406+2T>A (n.406+2T>A) n.318+3211T>A c.205+2T>A (n.205+2T>A) | |
| 15 | g.58010648C>A | CA392789868 | ALDH1A2 | c.493+1G>T (n.493+1G>T) c.*467+1G>T (n.*467+1G>T) c.430+1G>T (n.430+1G>T) c.406+1G>T (n.406+1G>T) n.318+3210G>T c.205+1G>T (n.205+1G>T) | |
| 15 | g.58010648C>G | CA392789869 | ALDH1A2 | c.493+1G>C (n.493+1G>C) c.*467+1G>C (n.*467+1G>C) c.430+1G>C (n.430+1G>C) c.406+1G>C (n.406+1G>C) n.318+3210G>C c.205+1G>C (n.205+1G>C) | |
| 15 | g.58010648C>T | CA392789870 | ALDH1A2 | c.493+1G>A (n.493+1G>A) c.*467+1G>A (n.*467+1G>A) c.430+1G>A (n.430+1G>A) c.406+1G>A (n.406+1G>A) n.318+3210G>A c.205+1G>A (n.205+1G>A) | gnomAD v4 |
| 15 | g.58010649C>A | CA392789873 | ALDH1A2 | c.493G>T (p.Asp165Tyr) c.*467G>T (n.*467G>T) c.430G>T (p.Asp144Tyr) c.406G>T (p.Asp136Tyr) n.318+3209G>T c.205G>T (p.Asp69Tyr) | |
| 15 | g.58010649C>G | CA392789871 | ALDH1A2 | c.493G>C (p.Asp165His) c.*467G>C (n.*467G>C) c.430G>C (p.Asp144His) c.406G>C (p.Asp136His) n.318+3209G>C c.205G>C (p.Asp69His) | |
| 15 | g.58010649C>T | CA392789872 | ALDH1A2 | c.493G>A (p.Asp165Asn) c.*467G>A (n.*467G>A) c.430G>A (p.Asp144Asn) c.406G>A (p.Asp136Asn) n.318+3209G>A c.205G>A (p.Asp69Asn) | |
| 15 | g.58010650T>A | CA490587231 | ALDH1A2 | c.492A>T (p.Val164=) c.*466A>T (n.*466A>T) c.429A>T (p.Val143=) c.405A>T (p.Val135=) n.318+3208A>T c.204A>T (p.Val68=) | |
| 15 | g.58010650T>C | CA490587232 | ALDH1A2 | c.492A>G (p.Val164=) c.*466A>G (n.*466A>G) c.429A>G (p.Val143=) c.405A>G (p.Val135=) n.318+3208A>G c.204A>G (p.Val68=) | |
| 15 | g.58010650T>G | CA490587233 | ALDH1A2 | c.492A>C (p.Val164=) c.*466A>C (n.*466A>C) c.429A>C (p.Val143=) c.405A>C (p.Val135=) n.318+3208A>C c.204A>C (p.Val68=) | |
| 15 | g.58010651A>C | CA392789874 | ALDH1A2 | c.491T>G (p.Val164Gly) c.*465T>G (n.*465T>G) c.428T>G (p.Val143Gly) c.404T>G (p.Val135Gly) n.318+3207T>G c.203T>G (p.Val68Gly) | |
| 15 | g.58010651A>G | CA392789875 | ALDH1A2 | c.491T>C (p.Val164Ala) c.*465T>C (n.*465T>C) c.428T>C (p.Val143Ala) c.404T>C (p.Val135Ala) n.318+3207T>C c.203T>C (p.Val68Ala) | |
| 15 | g.58010651A>T | CA392789876 | ALDH1A2 | c.491T>A (p.Val164Glu) c.*465T>A (n.*465T>A) c.428T>A (p.Val143Glu) c.404T>A (p.Val135Glu) n.318+3207T>A c.203T>A (p.Val68Glu) | |
| 15 | g.58010652C>A | CA392789877 | ALDH1A2 | c.490G>T (p.Val164Leu) c.*464G>T (n.*464G>T) c.427G>T (p.Val143Leu) c.403G>T (p.Val135Leu) n.318+3206G>T c.202G>T (p.Val68Leu) | gnomAD v4 |
| 15 | g.58010652C= | CA2180114034 | ALDH1A2 | c.490G= (p.Val164=) c.*464G= (n.*464G=) c.427G= (p.Val143=) c.403G= (p.Val135=) n.318+3206G= c.202G= (p.Val68=) | |
| 15 | g.58010652C>G | CA392789878 | ALDH1A2 | c.490G>C (p.Val164Leu) c.*464G>C (n.*464G>C) c.427G>C (p.Val143Leu) c.403G>C (p.Val135Leu) n.318+3206G>C c.202G>C (p.Val68Leu) | |
| 15 | g.58010652C>T | CA392789879 | ALDH1A2 | c.490G>A (p.Val164Ile) c.*464G>A (n.*464G>A) c.427G>A (p.Val143Ile) c.403G>A (p.Val135Ile) n.318+3206G>A c.202G>A (p.Val68Ile) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.58010653A= | CA2180114036 | ALDH1A2 | c.489T= (p.Pro163=) c.*463T= (n.*463T=) c.426T= (p.Pro142=) c.402T= (p.Pro134=) n.318+3205T= c.201T= (p.Pro67=) | |
| 15 | g.58010653A>C | CA490587234 | ALDH1A2 | c.489T>G (p.Pro163=) c.*463T>G (n.*463T>G) c.426T>G (p.Pro142=) c.402T>G (p.Pro134=) n.318+3205T>G c.201T>G (p.Pro67=) | |
| 15 | g.58010653A>G | CA490587235 | ALDH1A2 | c.489T>C (p.Pro163=) c.*463T>C (n.*463T>C) c.426T>C (p.Pro142=) c.402T>C (p.Pro134=) n.318+3205T>C c.201T>C (p.Pro67=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.58010653A>T | CA490587236 | ALDH1A2 | c.489T>A (p.Pro163=) c.*463T>A (n.*463T>A) c.426T>A (p.Pro142=) c.402T>A (p.Pro134=) n.318+3205T>A c.201T>A (p.Pro67=) | gnomAD v4 |
| 15 | g.58010654G>A | CA392789880 | ALDH1A2 | c.488C>T (p.Pro163Leu) c.*462C>T (n.*462C>T) c.425C>T (p.Pro142Leu) c.401C>T (p.Pro134Leu) n.318+3204C>T c.200C>T (p.Pro67Leu) | gnomAD v4 |
| 15 | g.58010654G>C | CA392789881 | ALDH1A2 | c.488C>G (p.Pro163Arg) c.*462C>G (n.*462C>G) c.425C>G (p.Pro142Arg) c.401C>G (p.Pro134Arg) n.318+3204C>G c.200C>G (p.Pro67Arg) | |
| 15 | g.58010654G>T | CA392789882 | ALDH1A2 | c.488C>A (p.Pro163His) c.*462C>A (n.*462C>A) c.425C>A (p.Pro142His) c.401C>A (p.Pro134His) n.318+3204C>A c.200C>A (p.Pro67His) | |
| 15 | g.58010655G>A | CA392789883 | ALDH1A2 | c.487C>T (p.Pro163Ser) c.*461C>T (n.*461C>T) c.424C>T (p.Pro142Ser) c.400C>T (p.Pro134Ser) n.318+3203C>T c.199C>T (p.Pro67Ser) | |
| 15 | g.58010655G>C | CA392789884 | ALDH1A2 | c.487C>G (p.Pro163Ala) c.*461C>G (n.*461C>G) c.424C>G (p.Pro142Ala) c.400C>G (p.Pro134Ala) n.318+3203C>G c.199C>G (p.Pro67Ala) | |
| 15 | g.58010655G>T | CA392789885 | ALDH1A2 | c.487C>A (p.Pro163Thr) c.*461C>A (n.*461C>A) c.424C>A (p.Pro142Thr) c.400C>A (p.Pro134Thr) n.318+3203C>A c.199C>A (p.Pro67Thr) | |
| 15 | g.58010656A>C | CA392789886 | ALDH1A2 | c.486T>G (p.Ile162Met) c.*460T>G (n.*460T>G) c.423T>G (p.Ile141Met) c.399T>G (p.Ile133Met) n.318+3202T>G c.198T>G (p.Ile66Met) | |
| 15 | g.58010656A>G | CA490587237 | ALDH1A2 | c.486T>C (p.Ile162=) c.*460T>C (n.*460T>C) c.423T>C (p.Ile141=) c.399T>C (p.Ile133=) n.318+3202T>C c.198T>C (p.Ile66=) | gnomAD v4 |
| 15 | g.58010656A>T | CA490587238 | ALDH1A2 | c.486T>A (p.Ile162=) c.*460T>A (n.*460T>A) c.423T>A (p.Ile141=) c.399T>A (p.Ile133=) n.318+3202T>A c.198T>A (p.Ile66=) | |
| 15 | g.58010657del | CA2628668932 | ALDH1A2 | c.486del (p.Pro163LeufsTer2) c.*460del (n.*460del) c.423del (p.Pro142LeufsTer2) c.399del (p.Pro134LeufsTer2) n.318+3202del c.198del (p.Pro67LeufsTer2) | gnomAD v4 |
| 15 | g.58010657A>C | CA392789887 | ALDH1A2 | c.485T>G (p.Ile162Ser) c.*459T>G (n.*459T>G) c.422T>G (p.Ile141Ser) c.398T>G (p.Ile133Ser) n.318+3201T>G c.197T>G (p.Ile66Ser) | |
| 15 | g.58010657A>G | CA392789889 | ALDH1A2 | c.485T>C (p.Ile162Thr) c.*459T>C (n.*459T>C) c.422T>C (p.Ile141Thr) c.398T>C (p.Ile133Thr) n.318+3201T>C c.197T>C (p.Ile66Thr) | |
| 15 | g.58010657A>T | CA392789888 | ALDH1A2 | c.485T>A (p.Ile162Asn) c.*459T>A (n.*459T>A) c.422T>A (p.Ile141Asn) c.398T>A (p.Ile133Asn) n.318+3201T>A c.197T>A (p.Ile66Asn) | |
| 15 | g.58010658T>A | CA392789890 | ALDH1A2 | c.484A>T (p.Ile162Phe) c.*458A>T (n.*458A>T) c.421A>T (p.Ile141Phe) c.397A>T (p.Ile133Phe) n.318+3200A>T c.196A>T (p.Ile66Phe) | |
| 15 | g.58010658T>C | CA392789891 | ALDH1A2 | c.484A>G (p.Ile162Val) c.*458A>G (n.*458A>G) c.421A>G (p.Ile141Val) c.397A>G (p.Ile133Val) n.318+3200A>G c.196A>G (p.Ile66Val) | |
| 15 | g.58010658T>G | CA392789892 | ALDH1A2 | c.484A>C (p.Ile162Leu) c.*458A>C (n.*458A>C) c.421A>C (p.Ile141Leu) c.397A>C (p.Ile133Leu) n.318+3200A>C c.196A>C (p.Ile66Leu) | |
| 15 | g.58010658T= | CA2180114038 | ALDH1A2 | c.484A= (p.Ile162=) c.*458A= (n.*458A=) c.421A= (p.Ile141=) c.397A= (p.Ile133=) n.318+3200A= c.196A= (p.Ile66=) | |
| 15 | g.58010658_58010659insA | CA970271156 | ALDH1A2 | c.483_484insT (p.Ile162TyrfsTer14) c.*457_*458insT (n.*457_*458insT) c.420_421insT (p.Ile141TyrfsTer14) c.396_397insT (p.Ile133TyrfsTer14) n.318+3199_318+3200insT c.195_196insT (p.Ile66TyrfsTer14) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.58010659G>A | CA7584083 | ALDH1A2 | c.483C>T (p.Thr161=) c.*457C>T (n.*457C>T) c.420C>T (p.Thr140=) c.396C>T (p.Thr132=) n.318+3199C>T c.195C>T (p.Thr65=) | dbSNP ExAC gnomAD v2 |
| 15 | g.58010659G>C | CA490587240 | ALDH1A2 | c.483C>G (p.Thr161=) c.*457C>G (n.*457C>G) c.420C>G (p.Thr140=) c.396C>G (p.Thr132=) n.318+3199C>G c.195C>G (p.Thr65=) | |
| 15 | g.58010659G= | CA2180114043 | ALDH1A2 | c.483C= (p.Thr161=) c.*457C= (n.*457C=) c.420C= (p.Thr140=) c.396C= (p.Thr132=) n.318+3199C= c.195C= (p.Thr65=) | |
| 15 | g.58010659G>T | CA490587239 | ALDH1A2 | c.483C>A (p.Thr161=) c.*457C>A (n.*457C>A) c.420C>A (p.Thr140=) c.396C>A (p.Thr132=) n.318+3199C>A c.195C>A (p.Thr65=) | dbSNP gnomAD v4 |
| 15 | g.58010660G>A | CA392789893 | ALDH1A2 | c.482C>T (p.Thr161Ile) c.*456C>T (n.*456C>T) c.419C>T (p.Thr140Ile) c.395C>T (p.Thr132Ile) n.318+3198C>T c.194C>T (p.Thr65Ile) | COSMIC |
| 15 | g.58010660G>C | CA271346380 | ALDH1A2 | c.482C>G (p.Thr161Ser) c.*456C>G (n.*456C>G) c.419C>G (p.Thr140Ser) c.395C>G (p.Thr132Ser) n.318+3198C>G c.194C>G (p.Thr65Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.58010660G= | CA2180114048 | ALDH1A2 | c.482C= (p.Thr161=) c.*456C= (n.*456C=) c.419C= (p.Thr140=) c.395C= (p.Thr132=) n.318+3198C= c.194C= (p.Thr65=) | |
| 15 | g.58010660G>T | CA392789894 | ALDH1A2 | c.482C>A (p.Thr161Asn) c.*456C>A (n.*456C>A) c.419C>A (p.Thr140Asn) c.395C>A (p.Thr132Asn) n.318+3198C>A c.194C>A (p.Thr65Asn) | dbSNP |
| 15 | g.58010661T>A | CA392789895 | ALDH1A2 | c.481A>T (p.Thr161Ser) c.*455A>T (n.*455A>T) c.418A>T (p.Thr140Ser) c.394A>T (p.Thr132Ser) n.318+3197A>T c.193A>T (p.Thr65Ser) | |
| 15 | g.58010661T>C | CA392789896 | ALDH1A2 | c.481A>G (p.Thr161Ala) c.*455A>G (n.*455A>G) c.418A>G (p.Thr140Ala) c.394A>G (p.Thr132Ala) n.318+3197A>G c.193A>G (p.Thr65Ala) | |
| 15 | g.58010661T>G | CA392789897 | ALDH1A2 | c.481A>C (p.Thr161Pro) c.*455A>C (n.*455A>C) c.418A>C (p.Thr140Pro) c.394A>C (p.Thr132Pro) n.318+3197A>C c.193A>C (p.Thr65Pro) | |
| 15 | g.58010662C>A | CA392789898 | ALDH1A2 | c.480G>T (p.Met160Ile) c.*454G>T (n.*454G>T) c.417G>T (p.Met139Ile) c.393G>T (p.Met131Ile) n.318+3196G>T c.192G>T (p.Met64Ile) | gnomAD v4 |
| 15 | g.58010662C>G | CA392789899 | ALDH1A2 | c.480G>C (p.Met160Ile) c.*454G>C (n.*454G>C) c.417G>C (p.Met139Ile) c.393G>C (p.Met131Ile) n.318+3196G>C c.192G>C (p.Met64Ile) | |
| 15 | g.58010662C>T | CA392789900 | ALDH1A2 | c.480G>A (p.Met160Ile) c.*454G>A (n.*454G>A) c.417G>A (p.Met139Ile) c.393G>A (p.Met131Ile) n.318+3196G>A c.192G>A (p.Met64Ile) | gnomAD v4 |
| 15 | g.58010663A>C | CA392789903 | ALDH1A2 | c.479T>G (p.Met160Arg) c.*453T>G (n.*453T>G) c.416T>G (p.Met139Arg) c.392T>G (p.Met131Arg) n.318+3195T>G c.191T>G (p.Met64Arg) | |
| 15 | g.58010663A>G | CA392789901 | ALDH1A2 | c.479T>C (p.Met160Thr) c.*453T>C (n.*453T>C) c.416T>C (p.Met139Thr) c.392T>C (p.Met131Thr) n.318+3195T>C c.191T>C (p.Met64Thr) | |
| 15 | g.58010663A>T | CA392789902 | ALDH1A2 | c.479T>A (p.Met160Lys) c.*453T>A (n.*453T>A) c.416T>A (p.Met139Lys) c.392T>A (p.Met131Lys) n.318+3195T>A c.191T>A (p.Met64Lys) | |
| 15 | g.58010664T>A | CA392789904 | ALDH1A2 | c.478A>T (p.Met160Leu) c.*452A>T (n.*452A>T) c.415A>T (p.Met139Leu) c.391A>T (p.Met131Leu) n.318+3194A>T c.190A>T (p.Met64Leu) | |
| 15 | g.58010664T>C | CA392789905 | ALDH1A2 | c.478A>G (p.Met160Val) c.*452A>G (n.*452A>G) c.415A>G (p.Met139Val) c.391A>G (p.Met131Val) n.318+3194A>G c.190A>G (p.Met64Val) | |
| 15 | g.58010664T>G | CA392789906 | ALDH1A2 | c.478A>C (p.Met160Leu) c.*452A>C (n.*452A>C) c.415A>C (p.Met139Leu) c.391A>C (p.Met131Leu) n.318+3194A>C c.190A>C (p.Met64Leu) | |
| 15 | g.58010665C>A | CA490587242 | ALDH1A2 | c.477G>T (p.Gly159=) c.*451G>T (n.*451G>T) c.414G>T (p.Gly138=) c.390G>T (p.Gly130=) n.318+3193G>T c.189G>T (p.Gly63=) | gnomAD v4 COSMIC |
| 15 | g.58010665C= | CA2180114051 | ALDH1A2 | c.477G= (p.Gly159=) c.*451G= (n.*451G=) c.414G= (p.Gly138=) c.390G= (p.Gly130=) n.318+3193G= c.189G= (p.Gly63=) | |
| 15 | g.58010665C>G | CA490587244 | ALDH1A2 | c.477G>C (p.Gly159=) c.*451G>C (n.*451G>C) c.414G>C (p.Gly138=) c.390G>C (p.Gly130=) n.318+3193G>C c.189G>C (p.Gly63=) | |
| 15 | g.58010665C>T | CA490587243 | ALDH1A2 | c.477G>A (p.Gly159=) c.*451G>A (n.*451G>A) c.414G>A (p.Gly138=) c.390G>A (p.Gly130=) n.318+3193G>A c.189G>A (p.Gly63=) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.58010666C>A | CA392789907 | ALDH1A2 | c.476G>T (p.Gly159Val) c.*450G>T (n.*450G>T) c.413G>T (p.Gly138Val) c.389G>T (p.Gly130Val) n.318+3192G>T c.188G>T (p.Gly63Val) | |
| 15 | g.58010666C>G | CA392789908 | ALDH1A2 | c.476G>C (p.Gly159Ala) c.*450G>C (n.*450G>C) c.413G>C (p.Gly138Ala) c.389G>C (p.Gly130Ala) n.318+3192G>C c.188G>C (p.Gly63Ala) | |
| 15 | g.58010666C>T | CA392789909 | ALDH1A2 | c.476G>A (p.Gly159Glu) c.*450G>A (n.*450G>A) c.413G>A (p.Gly138Glu) c.389G>A (p.Gly130Glu) n.318+3192G>A c.188G>A (p.Gly63Glu) | |
| 15 | g.58010667C>A | CA392789912 | ALDH1A2 | c.475G>T (p.Gly159Trp) c.*449G>T (n.*449G>T) c.412G>T (p.Gly138Trp) c.388G>T (p.Gly130Trp) n.318+3191G>T c.187G>T (p.Gly63Trp) | |
| 15 | g.58010667C>G | CA392789914 | ALDH1A2 | c.475G>C (p.Gly159Arg) c.*449G>C (n.*449G>C) c.412G>C (p.Gly138Arg) c.388G>C (p.Gly130Arg) n.318+3191G>C c.187G>C (p.Gly63Arg) | |
| 15 | g.58010667C>T | CA392789916 | ALDH1A2 | c.475G>A (p.Gly159Arg) c.*449G>A (n.*449G>A) c.412G>A (p.Gly138Arg) c.388G>A (p.Gly130Arg) n.318+3191G>A c.187G>A (p.Gly63Arg) | |
| 15 | g.58010668A>C | CA392789920 | ALDH1A2 | c.474T>G (p.His158Gln) c.*448T>G (n.*448T>G) c.411T>G (p.His137Gln) c.387T>G (p.His129Gln) n.318+3190T>G c.186T>G (p.His62Gln) | |
| 15 | g.58010668A>G | CA490587245 | ALDH1A2 | c.474T>C (p.His158=) c.*448T>C (n.*448T>C) c.411T>C (p.His137=) c.387T>C (p.His129=) n.318+3190T>C c.186T>C (p.His62=) | gnomAD v4 |
| 15 | g.58010668A>T | CA392789922 | ALDH1A2 | c.474T>A (p.His158Gln) c.*448T>A (n.*448T>A) c.411T>A (p.His137Gln) c.387T>A (p.His129Gln) n.318+3190T>A c.186T>A (p.His62Gln) | |
| 15 | g.58010669T>A | CA392789925 | ALDH1A2 | c.473A>T (p.His158Leu) c.*447A>T (n.*447A>T) c.410A>T (p.His137Leu) c.386A>T (p.His129Leu) n.318+3189A>T c.185A>T (p.His62Leu) | |
| 15 | g.58010669T>C | CA392789930 | ALDH1A2 | c.473A>G (p.His158Arg) c.*447A>G (n.*447A>G) c.410A>G (p.His137Arg) c.386A>G (p.His129Arg) n.318+3189A>G c.185A>G (p.His62Arg) | |
| 15 | g.58010669T>G | CA392789927 | ALDH1A2 | c.473A>C (p.His158Pro) c.*447A>C (n.*447A>C) c.410A>C (p.His137Pro) c.386A>C (p.His129Pro) n.318+3189A>C c.185A>C (p.His62Pro) | |
| 15 | g.58010670G>A | CA392789931 | ALDH1A2 | c.472C>T (p.His158Tyr) c.*446C>T (n.*446C>T) c.409C>T (p.His137Tyr) c.385C>T (p.His129Tyr) n.318+3188C>T c.184C>T (p.His62Tyr) | |
| 15 | g.58010670G>C | CA392789933 | ALDH1A2 | c.472C>G (p.His158Asp) c.*446C>G (n.*446C>G) c.409C>G (p.His137Asp) c.385C>G (p.His129Asp) n.318+3188C>G c.184C>G (p.His62Asp) | |
| 15 | g.58010670G>T | CA392789932 | ALDH1A2 | c.472C>A (p.His158Asn) c.*446C>A (n.*446C>A) c.409C>A (p.His137Asn) c.385C>A (p.His129Asn) n.318+3188C>A c.184C>A (p.His62Asn) | |
| 15 | g.58010671A= | CA2180114055 | ALDH1A2 | c.471T= (p.Ile157=) c.*445T= (n.*445T=) c.408T= (p.Ile136=) c.384T= (p.Ile128=) n.318+3187T= c.183T= (p.Ile61=) | |
| 15 | g.58010671A>C | CA392789934 | ALDH1A2 | c.471T>G (p.Ile157Met) c.*445T>G (n.*445T>G) c.408T>G (p.Ile136Met) c.384T>G (p.Ile128Met) n.318+3187T>G c.183T>G (p.Ile61Met) | |
| 15 | g.58010671A>G | CA7584084 | ALDH1A2 | c.471T>C (p.Ile157=) c.*445T>C (n.*445T>C) c.408T>C (p.Ile136=) c.384T>C (p.Ile128=) n.318+3187T>C c.183T>C (p.Ile61=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.58010671A>T | CA490587246 | ALDH1A2 | c.471T>A (p.Ile157=) c.*445T>A (n.*445T>A) c.408T>A (p.Ile136=) c.384T>A (p.Ile128=) n.318+3187T>A c.183T>A (p.Ile61=) | |
| 15 | g.58010672A>C | CA392789938 | ALDH1A2 | c.470T>G (p.Ile157Ser) c.*444T>G (n.*444T>G) c.407T>G (p.Ile136Ser) c.383T>G (p.Ile128Ser) n.318+3186T>G c.182T>G (p.Ile61Ser) | |
| 15 | g.58010672A>G | CA392789942 | ALDH1A2 | c.470T>C (p.Ile157Thr) c.*444T>C (n.*444T>C) c.407T>C (p.Ile136Thr) c.383T>C (p.Ile128Thr) n.318+3186T>C c.182T>C (p.Ile61Thr) | |
| 15 | g.58010672A>T | CA392789939 | ALDH1A2 | c.470T>A (p.Ile157Asn) c.*444T>A (n.*444T>A) c.407T>A (p.Ile136Asn) c.383T>A (p.Ile128Asn) n.318+3186T>A c.182T>A (p.Ile61Asn) | |
| 15 | g.58010673T>A | CA392789945 | ALDH1A2 | c.469A>T (p.Ile157Phe) c.*443A>T (n.*443A>T) c.406A>T (p.Ile136Phe) c.382A>T (p.Ile128Phe) n.318+3185A>T c.181A>T (p.Ile61Phe) | |
| 15 | g.58010673T>C | CA392789947 | ALDH1A2 | c.469A>G (p.Ile157Val) c.*443A>G (n.*443A>G) c.406A>G (p.Ile136Val) c.382A>G (p.Ile128Val) n.318+3185A>G c.181A>G (p.Ile61Val) | dbSNP |
| 15 | g.58010673T>G | CA392789948 | ALDH1A2 | c.469A>C (p.Ile157Leu) c.*443A>C (n.*443A>C) c.406A>C (p.Ile136Leu) c.382A>C (p.Ile128Leu) n.318+3185A>C c.181A>C (p.Ile61Leu) | |
| 15 | g.58010674T>A | CA392789949 | ALDH1A2 | c.468A>T (p.Lys156Asn) c.*442A>T (n.*442A>T) c.405A>T (p.Lys135Asn) c.381A>T (p.Lys127Asn) n.318+3184A>T c.180A>T (p.Lys60Asn) | |
| 15 | g.58010674T>C | CA490587247 | ALDH1A2 | c.468A>G (p.Lys156=) c.*442A>G (n.*442A>G) c.405A>G (p.Lys135=) c.381A>G (p.Lys127=) n.318+3184A>G c.180A>G (p.Lys60=) | |
| 15 | g.58010674T>G | CA392789950 | ALDH1A2 | c.468A>C (p.Lys156Asn) c.*442A>C (n.*442A>C) c.405A>C (p.Lys135Asn) c.381A>C (p.Lys127Asn) n.318+3184A>C c.180A>C (p.Lys60Asn) | |
| 15 | g.58010675T>A | CA392789951 | ALDH1A2 | c.467A>T (p.Lys156Ile) c.*441A>T (n.*441A>T) c.404A>T (p.Lys135Ile) c.380A>T (p.Lys127Ile) n.318+3183A>T c.179A>T (p.Lys60Ile) | |
| 15 | g.58010675T>C | CA392789952 | ALDH1A2 | c.467A>G (p.Lys156Arg) c.*441A>G (n.*441A>G) c.404A>G (p.Lys135Arg) c.380A>G (p.Lys127Arg) n.318+3183A>G c.179A>G (p.Lys60Arg) | |
| 15 | g.58010675T>G | CA392789954 | ALDH1A2 | c.467A>C (p.Lys156Thr) c.*441A>C (n.*441A>C) c.404A>C (p.Lys135Thr) c.380A>C (p.Lys127Thr) n.318+3183A>C c.179A>C (p.Lys60Thr) | |
| 15 | g.58010676T>A | CA392789956 | ALDH1A2 | c.466A>T (p.Lys156Ter) c.*440A>T (n.*440A>T) c.403A>T (p.Lys135Ter) c.379A>T (p.Lys127Ter) n.318+3182A>T c.178A>T (p.Lys60Ter) | |
| 15 | g.58010676T>C | CA392789958 | ALDH1A2 | c.466A>G (p.Lys156Glu) c.*440A>G (n.*440A>G) c.403A>G (p.Lys135Glu) c.379A>G (p.Lys127Glu) n.318+3182A>G c.178A>G (p.Lys60Glu) | |
| 15 | g.58010676T>G | CA392789960 | ALDH1A2 | c.466A>C (p.Lys156Gln) c.*440A>C (n.*440A>C) c.403A>C (p.Lys135Gln) c.379A>C (p.Lys127Gln) n.318+3182A>C c.178A>C (p.Lys60Gln) | |
| 15 | g.58010677A= | CA2180114057 | ALDH1A2 | c.465T= (p.Asp155=) c.*439T= (n.*439T=) c.402T= (p.Asp134=) c.378T= (p.Asp126=) n.318+3181T= c.177T= (p.Asp59=) | |
| 15 | g.58010677A>C | CA392789962 | ALDH1A2 | c.465T>G (p.Asp155Glu) c.*439T>G (n.*439T>G) c.402T>G (p.Asp134Glu) c.378T>G (p.Asp126Glu) n.318+3181T>G c.177T>G (p.Asp59Glu) | |
| 15 | g.58010677A>G | CA7584085 | ALDH1A2 | c.465T>C (p.Asp155=) c.*439T>C (n.*439T>C) c.402T>C (p.Asp134=) c.378T>C (p.Asp126=) n.318+3181T>C c.177T>C (p.Asp59=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.58010677A>T | CA392789964 | ALDH1A2 | c.465T>A (p.Asp155Glu) c.*439T>A (n.*439T>A) c.402T>A (p.Asp134Glu) c.378T>A (p.Asp126Glu) n.318+3181T>A c.177T>A (p.Asp59Glu) | |
| 15 | g.58010678T>A | CA392789966 | ALDH1A2 | c.464A>T (p.Asp155Val) c.*438A>T (n.*438A>T) c.401A>T (p.Asp134Val) c.377A>T (p.Asp126Val) n.318+3180A>T c.176A>T (p.Asp59Val) | |
| 15 | g.58010678T>C | CA392789967 | ALDH1A2 | c.464A>G (p.Asp155Gly) c.*438A>G (n.*438A>G) c.401A>G (p.Asp134Gly) c.377A>G (p.Asp126Gly) n.318+3180A>G c.176A>G (p.Asp59Gly) | |
| 15 | g.58010678T>G | CA392789969 | ALDH1A2 | c.464A>C (p.Asp155Ala) c.*438A>C (n.*438A>C) c.401A>C (p.Asp134Ala) c.377A>C (p.Asp126Ala) n.318+3180A>C c.176A>C (p.Asp59Ala) | |
| 15 | g.58010679C>A | CA392789971 | ALDH1A2 | c.463G>T (p.Asp155Tyr) c.*437G>T (n.*437G>T) c.400G>T (p.Asp134Tyr) c.376G>T (p.Asp126Tyr) n.318+3179G>T c.175G>T (p.Asp59Tyr) | |
| 15 | g.58010679C>G | CA392789978 | ALDH1A2 | c.463G>C (p.Asp155His) c.*437G>C (n.*437G>C) c.400G>C (p.Asp134His) c.376G>C (p.Asp126His) n.318+3179G>C c.175G>C (p.Asp59His) | |
| 15 | g.58010679C>T | CA392789981 | ALDH1A2 | c.463G>A (p.Asp155Asn) c.*437G>A (n.*437G>A) c.400G>A (p.Asp134Asn) c.376G>A (p.Asp126Asn) n.318+3179G>A c.175G>A (p.Asp59Asn) | gnomAD v4 |
| 15 | g.58010680A>C | CA490587249 | ALDH1A2 | c.462T>G (p.Ala154=) c.*436T>G (n.*436T>G) c.399T>G (p.Ala133=) c.375T>G (p.Ala125=) n.318+3178T>G c.174T>G (p.Ala58=) | |
| 15 | g.58010680A>G | CA490587250 | ALDH1A2 | c.462T>C (p.Ala154=) c.*436T>C (n.*436T>C) c.399T>C (p.Ala133=) c.375T>C (p.Ala125=) n.318+3178T>C c.174T>C (p.Ala58=) | |
| 15 | g.58010680A>T | CA490587251 | ALDH1A2 | c.462T>A (p.Ala154=) c.*436T>A (n.*436T>A) c.399T>A (p.Ala133=) c.375T>A (p.Ala125=) n.318+3178T>A c.174T>A (p.Ala58=) | |
| 15 | g.58010681G>A | CA392789983 | ALDH1A2 | c.461C>T (p.Ala154Val) c.*435C>T (n.*435C>T) c.398C>T (p.Ala133Val) c.374C>T (p.Ala125Val) n.318+3177C>T c.173C>T (p.Ala58Val) | |
| 15 | g.58010681G>C | CA392789986 | ALDH1A2 | c.461C>G (p.Ala154Gly) c.*435C>G (n.*435C>G) c.398C>G (p.Ala133Gly) c.374C>G (p.Ala125Gly) n.318+3177C>G c.173C>G (p.Ala58Gly) | |
| 15 | g.58010681G>T | CA392789988 | ALDH1A2 | c.461C>A (p.Ala154Asp) c.*435C>A (n.*435C>A) c.398C>A (p.Ala133Asp) c.374C>A (p.Ala125Asp) n.318+3177C>A c.173C>A (p.Ala58Asp) | |
| 15 | g.58010682C>A | CA271346381 | ALDH1A2 | c.460G>T (p.Ala154Ser) c.*434G>T (n.*434G>T) c.397G>T (p.Ala133Ser) c.373G>T (p.Ala125Ser) n.318+3176G>T c.172G>T (p.Ala58Ser) | dbSNP |
| 15 | g.58010682C= | CA2180114062 | ALDH1A2 | c.460G= (p.Ala154=) c.*434G= (n.*434G=) c.397G= (p.Ala133=) c.373G= (p.Ala125=) n.318+3176G= c.172G= (p.Ala58=) | |
| 15 | g.58010682C>G | CA392789994 | ALDH1A2 | c.460G>C (p.Ala154Pro) c.*434G>C (n.*434G>C) c.397G>C (p.Ala133Pro) c.373G>C (p.Ala125Pro) n.318+3176G>C c.172G>C (p.Ala58Pro) | |
| 15 | g.58010682C>T | CA7584086 | ALDH1A2 | c.460G>A (p.Ala154Thr) c.*434G>A (n.*434G>A) c.397G>A (p.Ala133Thr) c.373G>A (p.Ala125Thr) n.318+3176G>A c.172G>A (p.Ala58Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.58010683C>A | CA392789997 | ALDH1A2 | c.459G>T (p.Trp153Cys) c.*433G>T (n.*433G>T) c.396G>T (p.Trp132Cys) c.372G>T (p.Trp124Cys) n.318+3175G>T c.171G>T (p.Trp57Cys) | |
| 15 | g.58010683C>G | CA392789999 | ALDH1A2 | c.459G>C (p.Trp153Cys) c.*433G>C (n.*433G>C) c.396G>C (p.Trp132Cys) c.372G>C (p.Trp124Cys) n.318+3175G>C c.171G>C (p.Trp57Cys) | |
| 15 | g.58010683C>T | CA392790002 | ALDH1A2 | c.459G>A (p.Trp153Ter) c.*433G>A (n.*433G>A) c.396G>A (p.Trp132Ter) c.372G>A (p.Trp124Ter) n.318+3175G>A c.171G>A (p.Trp57Ter) | |
| 15 | g.58010684C>A | CA392790006 | ALDH1A2 | c.458G>T (p.Trp153Leu) c.*432G>T (n.*432G>T) c.395G>T (p.Trp132Leu) c.371G>T (p.Trp124Leu) n.318+3174G>T c.170G>T (p.Trp57Leu) | |
| 15 | g.58010684C>G | CA392790007 | ALDH1A2 | c.458G>C (p.Trp153Ser) c.*432G>C (n.*432G>C) c.395G>C (p.Trp132Ser) c.371G>C (p.Trp124Ser) n.318+3174G>C c.170G>C (p.Trp57Ser) | |
| 15 | g.58010684C>T | CA392790008 | ALDH1A2 | c.458G>A (p.Trp153Ter) c.*432G>A (n.*432G>A) c.395G>A (p.Trp132Ter) c.371G>A (p.Trp124Ter) n.318+3174G>A c.170G>A (p.Trp57Ter) | |
| 15 | g.58010685A>C | CA392790010 | ALDH1A2 | c.457T>G (p.Trp153Gly) c.*431T>G (n.*431T>G) c.394T>G (p.Trp132Gly) c.370T>G (p.Trp124Gly) n.318+3173T>G c.169T>G (p.Trp57Gly) | |
| 15 | g.58010685A>G | CA392790012 | ALDH1A2 | c.457T>C (p.Trp153Arg) c.*431T>C (n.*431T>C) c.394T>C (p.Trp132Arg) c.370T>C (p.Trp124Arg) n.318+3173T>C c.169T>C (p.Trp57Arg) | gnomAD v4 |
| 15 | g.58010685A>T | CA392790014 | ALDH1A2 | c.457T>A (p.Trp153Arg) c.*431T>A (n.*431T>A) c.394T>A (p.Trp132Arg) c.370T>A (p.Trp124Arg) n.318+3173T>A c.169T>A (p.Trp57Arg) | |
| 15 | g.58010686G>A | CA490587255 | ALDH1A2 | c.456C>T (p.Gly152=) c.*430C>T (n.*430C>T) c.393C>T (p.Gly131=) c.369C>T (p.Gly123=) n.318+3172C>T c.168C>T (p.Gly56=) | gnomAD v4 |
| 15 | g.58010686G>C | CA490587256 | ALDH1A2 | c.456C>G (p.Gly152=) c.*430C>G (n.*430C>G) c.393C>G (p.Gly131=) c.369C>G (p.Gly123=) n.318+3172C>G c.168C>G (p.Gly56=) | |
| 15 | g.58010686G>T | CA490587257 | ALDH1A2 | c.456C>A (p.Gly152=) c.*430C>A (n.*430C>A) c.393C>A (p.Gly131=) c.369C>A (p.Gly123=) n.318+3172C>A c.168C>A (p.Gly56=) | |
| 15 | g.58010687C>A | CA392790015 | ALDH1A2 | c.455G>T (p.Gly152Val) c.*429G>T (n.*429G>T) c.392G>T (p.Gly131Val) c.368G>T (p.Gly123Val) n.318+3171G>T c.167G>T (p.Gly56Val) | |
| 15 | g.58010687C>G | CA392790016 | ALDH1A2 | c.455G>C (p.Gly152Ala) c.*429G>C (n.*429G>C) c.392G>C (p.Gly131Ala) c.368G>C (p.Gly123Ala) n.318+3171G>C c.167G>C (p.Gly56Ala) | |
| 15 | g.58010687C>T | CA392790018 | ALDH1A2 | c.455G>A (p.Gly152Asp) c.*429G>A (n.*429G>A) c.392G>A (p.Gly131Asp) c.368G>A (p.Gly123Asp) n.318+3171G>A c.167G>A (p.Gly56Asp) | gnomAD v4 |
| 15 | g.58010688C>A | CA392790025 | ALDH1A2 | c.454G>T (p.Gly152Cys) c.*428G>T (n.*428G>T) c.391G>T (p.Gly131Cys) c.367G>T (p.Gly123Cys) n.318+3170G>T c.166G>T (p.Gly56Cys) | |
| 15 | g.58010688C>G | CA392790020 | ALDH1A2 | c.454G>C (p.Gly152Arg) c.*428G>C (n.*428G>C) c.391G>C (p.Gly131Arg) c.367G>C (p.Gly123Arg) n.318+3170G>C c.166G>C (p.Gly56Arg) | |
| 15 | g.58010688C>T | CA392790022 | ALDH1A2 | c.454G>A (p.Gly152Ser) c.*428G>A (n.*428G>A) c.391G>A (p.Gly131Ser) c.367G>A (p.Gly123Ser) n.318+3170G>A c.166G>A (p.Gly56Ser) | |
| 15 | g.58010689T>A | CA490587258 | ALDH1A2 | c.453A>T (p.Ala151=) c.*427A>T (n.*427A>T) c.390A>T (p.Ala130=) c.366A>T (p.Ala122=) n.318+3169A>T c.165A>T (p.Ala55=) | |
| 15 | g.58010689T>C | CA7584087 | ALDH1A2 | c.453A>G (p.Ala151=) c.*427A>G (n.*427A>G) c.390A>G (p.Ala130=) c.366A>G (p.Ala122=) n.318+3169A>G c.165A>G (p.Ala55=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.58010689T>G | CA490587259 | ALDH1A2 | c.453A>C (p.Ala151=) c.*427A>C (n.*427A>C) c.390A>C (p.Ala130=) c.366A>C (p.Ala122=) n.318+3169A>C c.165A>C (p.Ala55=) | |
| 15 | g.58010689T= | CA2180114068 | ALDH1A2 | c.453A= (p.Ala151=) c.*427A= (n.*427A=) c.390A= (p.Ala130=) c.366A= (p.Ala122=) n.318+3169A= c.165A= (p.Ala55=) | |
| 15 | g.58010690G>A | CA392790028 | ALDH1A2 | c.452C>T (p.Ala151Val) c.*426C>T (n.*426C>T) c.389C>T (p.Ala130Val) c.365C>T (p.Ala122Val) n.318+3168C>T c.164C>T (p.Ala55Val) | |
| 15 | g.58010690G>C | CA392790031 | ALDH1A2 | c.452C>G (p.Ala151Gly) c.*426C>G (n.*426C>G) c.389C>G (p.Ala130Gly) c.365C>G (p.Ala122Gly) n.318+3168C>G c.164C>G (p.Ala55Gly) | |
| 15 | g.58010690G>T | CA392790032 | ALDH1A2 | c.452C>A (p.Ala151Glu) c.*426C>A (n.*426C>A) c.389C>A (p.Ala130Glu) c.365C>A (p.Ala122Glu) n.318+3168C>A c.164C>A (p.Ala55Glu) | |
| 15 | g.58010691C>A | CA7584088 | ALDH1A2 | c.451G>T (p.Ala151Ser) c.*425G>T (n.*425G>T) c.388G>T (p.Ala130Ser) c.364G>T (p.Ala122Ser) n.318+3167G>T c.163G>T (p.Ala55Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.58010691C= | CA2180114074 | ALDH1A2 | c.451G= (p.Ala151=) c.*425G= (n.*425G=) c.388G= (p.Ala130=) c.364G= (p.Ala122=) n.318+3167G= c.163G= (p.Ala55=) | |
| 15 | g.58010691C>G | CA392790036 | ALDH1A2 | c.451G>C (p.Ala151Pro) c.*425G>C (n.*425G>C) c.388G>C (p.Ala130Pro) c.364G>C (p.Ala122Pro) n.318+3167G>C c.163G>C (p.Ala55Pro) | |
| 15 | g.58010691C>T | CA392790038 | ALDH1A2 | c.451G>A (p.Ala151Thr) c.*425G>A (n.*425G>A) c.388G>A (p.Ala130Thr) c.364G>A (p.Ala122Thr) n.318+3167G>A c.163G>A (p.Ala55Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.58010692G>A | CA7584089 | ALDH1A2 | c.450C>T (p.Tyr150=) c.*424C>T (n.*424C>T) c.387C>T (p.Tyr129=) c.363C>T (p.Tyr121=) n.318+3166C>T c.162C>T (p.Tyr54=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.58010692G>C | CA392790043 | ALDH1A2 | c.450C>G (p.Tyr150Ter) c.*424C>G (n.*424C>G) c.387C>G (p.Tyr129Ter) c.363C>G (p.Tyr121Ter) n.318+3166C>G c.162C>G (p.Tyr54Ter) | |
| 15 | g.58010692G= | CA2180114076 | ALDH1A2 | c.450C= (p.Tyr150=) c.*424C= (n.*424C=) c.387C= (p.Tyr129=) c.363C= (p.Tyr121=) n.318+3166C= c.162C= (p.Tyr54=) | |
| 15 | g.58010692G>T | CA392790045 | ALDH1A2 | c.450C>A (p.Tyr150Ter) c.*424C>A (n.*424C>A) c.387C>A (p.Tyr129Ter) c.363C>A (p.Tyr121Ter) n.318+3166C>A c.162C>A (p.Tyr54Ter) | |
| 15 | g.58010693T>A | CA392790048 | ALDH1A2 | c.449A>T (p.Tyr150Phe) c.*423A>T (n.*423A>T) c.386A>T (p.Tyr129Phe) c.362A>T (p.Tyr121Phe) n.318+3165A>T c.161A>T (p.Tyr54Phe) | |
| 15 | g.58010693T>C | CA392790050 | ALDH1A2 | c.449A>G (p.Tyr150Cys) c.*423A>G (n.*423A>G) c.386A>G (p.Tyr129Cys) c.362A>G (p.Tyr121Cys) n.318+3165A>G c.161A>G (p.Tyr54Cys) | gnomAD v4 |
| 15 | g.58010693T>G | CA392790051 | ALDH1A2 | c.449A>C (p.Tyr150Ser) c.*423A>C (n.*423A>C) c.386A>C (p.Tyr129Ser) c.362A>C (p.Tyr121Ser) n.318+3165A>C c.161A>C (p.Tyr54Ser) | |
| 15 | g.58010694A>C | CA392790056 | ALDH1A2 | c.448T>G (p.Tyr150Asp) c.*422T>G (n.*422T>G) c.385T>G (p.Tyr129Asp) c.361T>G (p.Tyr121Asp) n.318+3164T>G c.160T>G (p.Tyr54Asp) | |
| 15 | g.58010694A>G | CA392790058 | ALDH1A2 | c.448T>C (p.Tyr150His) c.*422T>C (n.*422T>C) c.385T>C (p.Tyr129His) c.361T>C (p.Tyr121His) n.318+3164T>C c.160T>C (p.Tyr54His) | gnomAD v4 |
| 15 | g.58010694A>T | CA392790054 | ALDH1A2 | c.448T>A (p.Tyr150Asn) c.*422T>A (n.*422T>A) c.385T>A (p.Tyr129Asn) c.361T>A (p.Tyr121Asn) n.318+3164T>A c.160T>A (p.Tyr54Asn) | COSMIC |
| 15 | g.58010695A= | CA2180114082 | ALDH1A2 | c.447T= (p.Tyr149=) c.*421T= (n.*421T=) c.384T= (p.Tyr128=) c.360T= (p.Tyr120=) n.318+3163T= c.159T= (p.Tyr53=) | |
| 15 | g.58010695A>C | CA392790063 | ALDH1A2 | c.447T>G (p.Tyr149Ter) c.*421T>G (n.*421T>G) c.384T>G (p.Tyr128Ter) c.360T>G (p.Tyr120Ter) n.318+3163T>G c.159T>G (p.Tyr53Ter) | |
| 15 | g.58010695A>G | CA7584090 | ALDH1A2 | c.447T>C (p.Tyr149=) c.*421T>C (n.*421T>C) c.384T>C (p.Tyr128=) c.360T>C (p.Tyr120=) n.318+3163T>C c.159T>C (p.Tyr53=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.58010695A>T | CA392790067 | ALDH1A2 | c.447T>A (p.Tyr149Ter) c.*421T>A (n.*421T>A) c.384T>A (p.Tyr128Ter) c.360T>A (p.Tyr120Ter) n.318+3163T>A c.159T>A (p.Tyr53Ter) | |
| 15 | g.58010696T>A | CA392790070 | ALDH1A2 | c.446A>T (p.Tyr149Phe) c.*420A>T (n.*420A>T) c.383A>T (p.Tyr128Phe) c.359A>T (p.Tyr120Phe) n.318+3162A>T c.158A>T (p.Tyr53Phe) | |
| 15 | g.58010696T>C | CA7584091 | ALDH1A2 | c.446A>G (p.Tyr149Cys) c.*420A>G (n.*420A>G) c.383A>G (p.Tyr128Cys) c.359A>G (p.Tyr120Cys) n.318+3162A>G c.158A>G (p.Tyr53Cys) | dbSNP ExAC |
| 15 | g.58010696T>G | CA392790073 | ALDH1A2 | c.446A>C (p.Tyr149Ser) c.*420A>C (n.*420A>C) c.383A>C (p.Tyr128Ser) c.359A>C (p.Tyr120Ser) n.318+3162A>C c.158A>C (p.Tyr53Ser) | |
| 15 | g.58010696T= | CA2180114087 | ALDH1A2 | c.446A= (p.Tyr149=) c.*420A= (n.*420A=) c.383A= (p.Tyr128=) c.359A= (p.Tyr120=) n.318+3162A= c.158A= (p.Tyr53=) | |
| 15 | g.58010697A>C | CA392790075 | ALDH1A2 | c.445T>G (p.Tyr149Asp) c.*419T>G (n.*419T>G) c.382T>G (p.Tyr128Asp) c.358T>G (p.Tyr120Asp) n.318+3161T>G c.157T>G (p.Tyr53Asp) | |
| 15 | g.58010697A>G | CA392790077 | ALDH1A2 | c.445T>C (p.Tyr149His) c.*419T>C (n.*419T>C) c.382T>C (p.Tyr128His) c.358T>C (p.Tyr120His) n.318+3161T>C c.157T>C (p.Tyr53His) | |
| 15 | g.58010697A>T | CA392790080 | ALDH1A2 | c.445T>A (p.Tyr149Asn) c.*419T>A (n.*419T>A) c.382T>A (p.Tyr128Asn) c.358T>A (p.Tyr120Asn) n.318+3161T>A c.157T>A (p.Tyr53Asn) | |
| 15 | g.58010698T>A | CA490587261 | ALDH1A2 | c.444A>T (p.Arg148=) c.*418A>T (n.*418A>T) c.381A>T (p.Arg127=) c.357A>T (p.Arg119=) n.318+3160A>T c.156A>T (p.Arg52=) | |
| 15 | g.58010698T>C | CA271346382 | ALDH1A2 | c.444A>G (p.Arg148=) c.*418A>G (n.*418A>G) c.381A>G (p.Arg127=) c.357A>G (p.Arg119=) n.318+3160A>G c.156A>G (p.Arg52=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.58010698T>G | CA490587262 | ALDH1A2 | c.444A>C (p.Arg148=) c.*418A>C (n.*418A>C) c.381A>C (p.Arg127=) c.357A>C (p.Arg119=) n.318+3160A>C c.156A>C (p.Arg52=) | |
| 15 | g.58010698T= | CA2180114090 | ALDH1A2 | c.444A= (p.Arg148=) c.*418A= (n.*418A=) c.381A= (p.Arg127=) c.357A= (p.Arg119=) n.318+3160A= c.156A= (p.Arg52=) | |
| 15 | g.58010699C>A | CA392790082 | ALDH1A2 | c.443G>T (p.Arg148Leu) c.*417G>T (n.*417G>T) c.380G>T (p.Arg127Leu) c.356G>T (p.Arg119Leu) n.318+3159G>T c.155G>T (p.Arg52Leu) | gnomAD v4 |
| 15 | g.58010699C= | CA2180114095 | ALDH1A2 | c.443G= (p.Arg148=) c.*417G= (n.*417G=) c.380G= (p.Arg127=) c.356G= (p.Arg119=) n.318+3159G= c.155G= (p.Arg52=) | |
| 15 | g.58010699C>G | CA392790084 | ALDH1A2 | c.443G>C (p.Arg148Pro) c.*417G>C (n.*417G>C) c.380G>C (p.Arg127Pro) c.356G>C (p.Arg119Pro) n.318+3159G>C c.155G>C (p.Arg52Pro) | |
| 15 | g.58010699C>T | CA7584092 | ALDH1A2 | c.443G>A (p.Arg148Gln) c.*417G>A (n.*417G>A) c.380G>A (p.Arg127Gln) c.356G>A (p.Arg119Gln) n.318+3159G>A c.155G>A (p.Arg52Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 15 | g.58010700G>A | CA392790088 | ALDH1A2 | c.442C>T (p.Arg148Ter) c.*416C>T (n.*416C>T) c.379C>T (p.Arg127Ter) c.355C>T (p.Arg119Ter) n.318+3158C>T c.154C>T (p.Arg52Ter) | gnomAD v4 COSMIC |
| 15 | g.58010700G>C | CA392790091 | ALDH1A2 | c.442C>G (p.Arg148Gly) c.*416C>G (n.*416C>G) c.379C>G (p.Arg127Gly) c.355C>G (p.Arg119Gly) n.318+3158C>G c.154C>G (p.Arg52Gly) | |
| 15 | g.58010700G>T | CA490587263 | ALDH1A2 | c.442C>A (p.Arg148=) c.*416C>A (n.*416C>A) c.379C>A (p.Arg127=) c.355C>A (p.Arg119=) n.318+3158C>A c.154C>A (p.Arg52=) | |
| 15 | g.58010701A= | CA2180114102 | ALDH1A2 | c.441T= (p.Phe147=) c.*415T= (n.*415T=) c.378T= (p.Phe126=) c.354T= (p.Phe118=) n.318+3157T= c.153T= (p.Phe51=) | |
| 15 | g.58010701A>C | CA392790094 | ALDH1A2 | c.441T>G (p.Phe147Leu) c.*415T>G (n.*415T>G) c.378T>G (p.Phe126Leu) c.354T>G (p.Phe118Leu) n.318+3157T>G c.153T>G (p.Phe51Leu) | dbSNP gnomAD v2 |
| 15 | g.58010701A>G | CA490587264 | ALDH1A2 | c.441T>C (p.Phe147=) c.*415T>C (n.*415T>C) c.378T>C (p.Phe126=) c.354T>C (p.Phe118=) n.318+3157T>C c.153T>C (p.Phe51=) | gnomAD v4 |
| 15 | g.58010701A>T | CA392790093 | ALDH1A2 | c.441T>A (p.Phe147Leu) c.*415T>A (n.*415T>A) c.378T>A (p.Phe126Leu) c.354T>A (p.Phe118Leu) n.318+3157T>A c.153T>A (p.Phe51Leu) | |
| 15 | g.58010702A>C | CA392790096 | ALDH1A2 | c.440T>G (p.Phe147Cys) c.*414T>G (n.*414T>G) c.377T>G (p.Phe126Cys) c.353T>G (p.Phe118Cys) n.318+3156T>G c.152T>G (p.Phe51Cys) | |
| 15 | g.58010702A>G | CA392790098 | ALDH1A2 | c.440T>C (p.Phe147Ser) c.*414T>C (n.*414T>C) c.377T>C (p.Phe126Ser) c.353T>C (p.Phe118Ser) n.318+3156T>C c.152T>C (p.Phe51Ser) | |
| 15 | g.58010702A>T | CA392790100 | ALDH1A2 | c.440T>A (p.Phe147Tyr) c.*414T>A (n.*414T>A) c.377T>A (p.Phe126Tyr) c.353T>A (p.Phe118Tyr) n.318+3156T>A c.152T>A (p.Phe51Tyr) | |
| 15 | g.58010703A>C | CA392790104 | ALDH1A2 | c.439T>G (p.Phe147Val) c.*413T>G (n.*413T>G) c.376T>G (p.Phe126Val) c.352T>G (p.Phe118Val) n.318+3155T>G c.151T>G (p.Phe51Val) | |
| 15 | g.58010703A>G | CA392790105 | ALDH1A2 | c.439T>C (p.Phe147Leu) c.*413T>C (n.*413T>C) c.376T>C (p.Phe126Leu) c.352T>C (p.Phe118Leu) n.318+3155T>C c.151T>C (p.Phe51Leu) | dbSNP gnomAD v4 |
| 15 | g.58010703A>T | CA392790108 | ALDH1A2 | c.439T>A (p.Phe147Ile) c.*413T>A (n.*413T>A) c.376T>A (p.Phe126Ile) c.352T>A (p.Phe118Ile) n.318+3155T>A c.151T>A (p.Phe51Ile) | dbSNP |
| 15 | g.58010704G>A | CA490587265 | ALDH1A2 | c.438C>T (p.Thr146=) c.*412C>T (n.*412C>T) c.375C>T (p.Thr125=) c.351C>T (p.Thr117=) n.318+3154C>T c.150C>T (p.Thr50=) | |
| 15 | g.58010704G>C | CA490587266 | ALDH1A2 | c.438C>G (p.Thr146=) c.*412C>G (n.*412C>G) c.375C>G (p.Thr125=) c.351C>G (p.Thr117=) n.318+3154C>G c.150C>G (p.Thr50=) | |
| 15 | g.58010704G>T | CA490587267 | ALDH1A2 | c.438C>A (p.Thr146=) c.*412C>A (n.*412C>A) c.375C>A (p.Thr125=) c.351C>A (p.Thr117=) n.318+3154C>A c.150C>A (p.Thr50=) | |
| 15 | g.58010705G>A | CA392790115 | ALDH1A2 | c.437C>T (p.Thr146Ile) c.*411C>T (n.*411C>T) c.374C>T (p.Thr125Ile) c.350C>T (p.Thr117Ile) n.318+3153C>T c.149C>T (p.Thr50Ile) | dbSNP gnomAD v2 |
| 15 | g.58010705G>C | CA392790111 | ALDH1A2 | c.437C>G (p.Thr146Ser) c.*411C>G (n.*411C>G) c.374C>G (p.Thr125Ser) c.350C>G (p.Thr117Ser) n.318+3153C>G c.149C>G (p.Thr50Ser) | |
| 15 | g.58010705G= | CA2180114106 | ALDH1A2 | c.437C= (p.Thr146=) c.*411C= (n.*411C=) c.374C= (p.Thr125=) c.350C= (p.Thr117=) n.318+3153C= c.149C= (p.Thr50=) | |
| 15 | g.58010705G>T | CA392790113 | ALDH1A2 | c.437C>A (p.Thr146Asn) c.*411C>A (n.*411C>A) c.374C>A (p.Thr125Asn) c.350C>A (p.Thr117Asn) n.318+3153C>A c.149C>A (p.Thr50Asn) | |
| 15 | g.58010706T>A | CA392790118 | ALDH1A2 | c.436A>T (p.Thr146Ser) c.*410A>T (n.*410A>T) c.373A>T (p.Thr125Ser) c.349A>T (p.Thr117Ser) n.318+3152A>T c.148A>T (p.Thr50Ser) | |
| 15 | g.58010706T>C | CA392790120 | ALDH1A2 | c.436A>G (p.Thr146Ala) c.*410A>G (n.*410A>G) c.373A>G (p.Thr125Ala) c.349A>G (p.Thr117Ala) n.318+3152A>G c.148A>G (p.Thr50Ala) | |
| 15 | g.58010706T>G | CA392790122 | ALDH1A2 | c.436A>C (p.Thr146Pro) c.*410A>C (n.*410A>C) c.373A>C (p.Thr125Pro) c.349A>C (p.Thr117Pro) n.318+3152A>C c.148A>C (p.Thr50Pro) | |
| 15 | g.58010707T>A | CA392790124 | ALDH1A2 | c.435A>T (p.Lys145Asn) c.*409A>T (n.*409A>T) c.372A>T (p.Lys124Asn) c.348A>T (p.Lys116Asn) n.318+3151A>T c.147A>T (p.Lys49Asn) | |
| 15 | g.58010707T>C | CA490587268 | ALDH1A2 | c.435A>G (p.Lys145=) c.*409A>G (n.*409A>G) c.372A>G (p.Lys124=) c.348A>G (p.Lys116=) n.318+3151A>G c.147A>G (p.Lys49=) | |
| 15 | g.58010707T>G | CA392790127 | ALDH1A2 | c.435A>C (p.Lys145Asn) c.*409A>C (n.*409A>C) c.372A>C (p.Lys124Asn) c.348A>C (p.Lys116Asn) n.318+3151A>C c.147A>C (p.Lys49Asn) | |
| 15 | g.58010708T>A | CA392790129 | ALDH1A2 | c.434A>T (p.Lys145Ile) c.*408A>T (n.*408A>T) c.371A>T (p.Lys124Ile) c.347A>T (p.Lys116Ile) n.318+3150A>T c.146A>T (p.Lys49Ile) | COSMIC |
| 15 | g.58010708T>C | CA392790134 | ALDH1A2 | c.434A>G (p.Lys145Arg) c.*408A>G (n.*408A>G) c.371A>G (p.Lys124Arg) c.347A>G (p.Lys116Arg) n.318+3150A>G c.146A>G (p.Lys49Arg) | |
| 15 | g.58010708T>G | CA392790132 | ALDH1A2 | c.434A>C (p.Lys145Thr) c.*408A>C (n.*408A>C) c.371A>C (p.Lys124Thr) c.347A>C (p.Lys116Thr) n.318+3150A>C c.146A>C (p.Lys49Thr) |