Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.80108679_80116948del | CA913184754 | GAA | c.1195-18_2190-20del c.1195-18_*328-20del | |
17 | g.80108678_80116951del | CA658795244 | GAA | c.1195-19_2190-17del c.1195-19_*328-17del | ClinVar |
17 | g.80111485_80118678del | CA10654926 | GAA | c.1636+460_2672del c.1636+460_*810del | ClinVar |
17 | g.80112099_80118805del | CA913184762 | GAA | c.1753_2799del c.1753_*937del | |
17 | g.80113236_80113254dup | CA2598862218 | GAA | c.2059_2077dup (p.Gln693LeufsTer?) c.*197_*215dup (n.*197_*215dup) n.499_517dup c.478_496dup | dbSNP gnomAD v3 gnomAD v4 |
17 | g.80113250C>A | CA502179140 | GAA | c.2073C>A (p.Ala691=) c.*211C>A (n.*211C>A) n.513C>A c.492C>A | gnomAD v4 |
17 | g.80113250C>G | CA502179137 | GAA | c.2073C>G (p.Ala691=) c.*211C>G (n.*211C>G) n.513C>G c.492C>G | |
17 | g.80113250C>T | CA502179138 | GAA | c.2073C>T (p.Ala691=) c.*211C>T (n.*211C>T) n.513C>T c.492C>T | |
17 | g.80113251C>A | CA401370438 | GAA | c.2074C>A (p.Gln692Lys) c.*212C>A (n.*212C>A) n.514C>A c.493C>A | gnomAD v4 |
17 | g.80113251C= | CA2277815443 | GAA | c.2074C= (p.Gln692=) c.*212C= (n.*212C=) n.514C= c.493C= | |
17 | g.80113251C>G | CA401370439 | GAA | c.2074C>G (p.Gln692Glu) c.*212C>G (n.*212C>G) n.514C>G c.493C>G | |
17 | g.80113251C>T | CA401370437 | GAA | c.2074C>T (p.Gln692Ter) c.*212C>T (n.*212C>T) n.514C>T c.493C>T | ClinVar dbSNP gnomAD v4 |
17 | g.80113252A>C | CA401370440 | GAA | c.2075A>C (p.Gln692Pro) c.*213A>C (n.*213A>C) n.515A>C c.494A>C | |
17 | g.80113252A>G | CA401370441 | GAA | c.2075A>G (p.Gln692Arg) c.*213A>G (n.*213A>G) n.515A>G c.494A>G | gnomAD v4 |
17 | g.80113252A>T | CA401370442 | GAA | c.2075A>T (p.Gln692Leu) c.*213A>T (n.*213A>T) n.515A>T c.494A>T | |
17 | g.80113253G>A | CA502179142 | GAA | c.2076G>A (p.Gln692=) c.*214G>A (n.*214G>A) n.516G>A c.495G>A | gnomAD v4 |
17 | g.80113253G>C | CA401370443 | GAA | c.2076G>C (p.Gln692His) c.*214G>C (n.*214G>C) n.516G>C c.495G>C | |
17 | g.80113253G>T | CA401370444 | GAA | c.2076G>T (p.Gln692His) c.*214G>T (n.*214G>T) n.516G>T c.495G>T | gnomAD v4 |
17 | g.80113254C>A | CA401370445 | GAA | c.2077C>A (p.Gln693Lys) c.*215C>A (n.*215C>A) n.517C>A c.496C>A | ClinVar dbSNP gnomAD v4 |
17 | g.80113254C= | CA2277815444 | GAA | c.2077C= (p.Gln693=) c.*215C= (n.*215C=) n.517C= c.496C= | |
17 | g.80113254C>G | CA401370446 | GAA | c.2077C>G (p.Gln693Glu) c.*215C>G (n.*215C>G) n.517C>G c.496C>G | dbSNP gnomAD v4 |
17 | g.80113254C>T | CA401370447 | GAA | c.2077C>T (p.Gln693Ter) c.*215C>T (n.*215C>T) n.517C>T c.496C>T | gnomAD v4 |
17 | g.80113255A= | CA2277815446 | GAA | c.2078A= (p.Gln693=) c.*216A= (n.*216A=) n.518A= c.497A= | |
17 | g.80113255A>C | CA401370448 | GAA | c.2078A>C (p.Gln693Pro) c.*216A>C (n.*216A>C) n.518A>C c.497A>C | |
17 | g.80113255A>G | CA8815608 | GAA | c.2078A>G (p.Gln693Arg) c.*216A>G (n.*216A>G) n.518A>G c.497A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80113255A>T | CA401370449 | GAA | c.2078A>T (p.Gln693Leu) c.*216A>T (n.*216A>T) n.518A>T c.497A>T | |
17 | g.80113255dup | CA273685 | GAA | c.2078dup (p.Ala694GlyfsTer?) c.*216dup (n.*216dup) n.518dup c.497dup | ClinVar dbSNP |
17 | g.80113256G>A | CA502179146 | GAA | c.2079G>A (p.Gln693=) c.*217G>A (n.*217G>A) n.519G>A c.498G>A | |
17 | g.80113256G>C | CA401370450 | GAA | c.2079G>C (p.Gln693His) c.*217G>C (n.*217G>C) n.519G>C c.498G>C | dbSNP gnomAD v4 |
17 | g.80113256G>T | CA401370451 | GAA | c.2079G>T (p.Gln693His) c.*217G>T (n.*217G>T) n.519G>T c.498G>T | gnomAD v4 |
17 | g.80113257G>A | CA401370454 | GAA | c.2080G>A (p.Ala694Thr) c.*218G>A (n.*218G>A) n.520G>A c.499G>A | gnomAD v4 |
17 | g.80113257G>C | CA401370453 | GAA | c.2080G>C (p.Ala694Pro) c.*218G>C (n.*218G>C) n.520G>C c.499G>C | |
17 | g.80113257G>T | CA401370452 | GAA | c.2080G>T (p.Ala694Ser) c.*218G>T (n.*218G>T) n.520G>T c.499G>T | gnomAD v4 |
17 | g.80113257_80113258delinsGC | CA2277815447 | GAA | c.2080_2081delinsGC (p.Ala694=) c.*218_*219delinsGC (n.*218_*219delinsGC) n.520_521delinsGC c.499_500delinsGC | |
17 | g.80113258C>A | CA401370455 | GAA | c.2081C>A (p.Ala694Asp) c.*219C>A (n.*219C>A) n.521C>A c.500C>A | gnomAD v4 |
17 | g.80113258C>G | CA401370456 | GAA | c.2081C>G (p.Ala694Gly) c.*219C>G (n.*219C>G) n.521C>G c.500C>G | |
17 | g.80113258C>T | CA401370457 | GAA | c.2081C>T (p.Ala694Val) c.*219C>T (n.*219C>T) n.521C>T c.500C>T | gnomAD v4 |
17 | g.80113259del | CA916082441 | GAA | c.2082del (p.Met695Ter) c.*220del (n.*220del) n.522del c.501del | ClinVar dbSNP |
17 | g.80113259C>A | CA502179147 | GAA | c.2082C>A (p.Ala694=) c.*220C>A (n.*220C>A) n.522C>A c.501C>A | gnomAD v4 |
17 | g.80113259C>G | CA502179151 | GAA | c.2082C>G (p.Ala694=) c.*220C>G (n.*220C>G) n.522C>G c.501C>G | |
17 | g.80113259C>T | CA502179149 | GAA | c.2082C>T (p.Ala694=) c.*220C>T (n.*220C>T) n.522C>T c.501C>T | ClinVar |
17 | g.80113260A= | CA2277815449 | GAA | c.2083A= (p.Met695=) c.*221A= (n.*221A=) n.523A= c.502A= | |
17 | g.80113260A>C | CA401370458 | GAA | c.2083A>C (p.Met695Leu) c.*221A>C (n.*221A>C) n.523A>C c.502A>C | dbSNP |
17 | g.80113260A>G | CA401370459 | GAA | c.2083A>G (p.Met695Val) c.*221A>G (n.*221A>G) n.523A>G c.502A>G | dbSNP |
17 | g.80113260A>T | CA401370460 | GAA | c.2083A>T (p.Met695Leu) c.*221A>T (n.*221A>T) n.523A>T c.502A>T | |
17 | g.80113261T>A | CA401370461 | GAA | c.2084T>A (p.Met695Lys) c.*222T>A (n.*222T>A) n.524T>A c.503T>A | |
17 | g.80113261T>C | CA401370462 | GAA | c.2084T>C (p.Met695Thr) c.*222T>C (n.*222T>C) n.524T>C c.503T>C | ClinVar dbSNP gnomAD v4 |
17 | g.80113261T>G | CA401370463 | GAA | c.2084T>G (p.Met695Arg) c.*222T>G (n.*222T>G) n.524T>G c.503T>G | |
17 | g.80113261dup | CA919905223 | GAA | c.2084dup (p.Met695IlefsTer?) c.*222dup (n.*222dup) n.524dup c.503dup | dbSNP |
17 | g.80113262G>A | CA401370464 | GAA | c.2085G>A (p.Met695Ile) c.*223G>A (n.*223G>A) n.525G>A c.504G>A | gnomAD v4 |