| 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.80112635_80112652del | CA2640294606 | GAA | c.1812_1829del (p.Gly605_Ala610del) n.252_269del c.200_217del n.426_443del | dbSNP gnomAD v4 |
| 17 | g.80112642_80112659dup | CA658824783 | GAA | c.1819_1836dup (p.His612_Trp613insGlyArgTyrAlaGlyHis) n.259_276dup c.207_224dup n.433_450dup | ClinVar dbSNP |
| 17 | g.80112642_80112659del | CA658795266 | GAA | c.1819_1836del (p.Gly607_His612del) n.259_276del c.207_224del n.433_450del | |
| 17 | g.80112645del | CA2695227102 | GAA | c.1822del (p.Arg608AspfsTer?) n.262del c.210del n.436del | |
| 17 | g.80112645C>A | CA502402558 | GAA | c.1822C>A (p.Arg608=) n.262C>A c.210C>A n.436C>A | |
| 17 | g.80112645C= | CA2277815075 | GAA | c.1822C= (p.Arg608=) n.262C= c.210C= n.436C= | |
| 17 | g.80112645C>G | CA401369512 | GAA | c.1822C>G (p.Arg608Gly) n.262C>G c.210C>G n.436C>G | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.80112645C>T | CA8815488 | GAA | c.1822C>T (p.Arg608Ter) n.262C>T c.210C>T n.436C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.80112647_80112651dup | CA16041896 | GAA | c.1824_1828dup (p.Ala610AspfsTer?) n.264_268dup c.212_216dup n.438_442dup | ClinVar dbSNP |
| 17 | g.80112646G>A | CA8815489 | GAA | c.1823G>A (p.Arg608Gln) n.263G>A c.211G>A n.437G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.80112646G>C | CA401369519 | GAA | c.1823G>C (p.Arg608Pro) n.263G>C c.211G>C n.437G>C | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.80112646G= | CA2277815076 | GAA | c.1823G= (p.Arg608=) n.263G= c.211G= n.437G= | |
| 17 | g.80112646G>T | CA294896401 | GAA | c.1823G>T (p.Arg608Leu) n.263G>T c.211G>T n.437G>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.80112647A>C | CA502402562 | GAA | c.1824A>C (p.Arg608=) n.264A>C c.212A>C n.438A>C | |
| 17 | g.80112647A>G | CA502402560 | GAA | c.1824A>G (p.Arg608=) n.264A>G c.212A>G n.438A>G | |
| 17 | g.80112647A>T | CA502402561 | GAA | c.1824A>T (p.Arg608=) n.264A>T c.212A>T n.438A>T | |
| 17 | g.80112648T>A | CA401369522 | GAA | c.1825T>A (p.Tyr609Asn) n.265T>A c.213T>A n.439T>A | |
| 17 | g.80112648T>C | CA8815490 | GAA | c.1825T>C (p.Tyr609His) n.265T>C c.213T>C n.439T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.80112648T>G | CA401369524 | GAA | c.1825T>G (p.Tyr609Asp) n.265T>G c.213T>G n.439T>G | dbSNP |
| 17 | g.80112648T= | CA2277815078 | GAA | c.1825T= (p.Tyr609=) n.265T= c.213T= n.439T= | |
| 17 | g.80112649A= | CA2277815081 | GAA | c.1826A= (p.Tyr609=) n.266A= c.214A= n.440A= | |
| 17 | g.80112649A>C | CA401369532 | GAA | c.1826A>C (p.Tyr609Ser) n.266A>C c.214A>C n.440A>C | |
| 17 | g.80112649A>G | CA401369529 | GAA | c.1826A>G (p.Tyr609Cys) n.266A>G c.214A>G n.440A>G | gnomAD v4 |
| 17 | g.80112649A>T | CA401369527 | GAA | c.1826A>T (p.Tyr609Phe) n.266A>T c.214A>T n.440A>T | ClinVar dbSNP |
| 17 | g.80112649dup | CA274414 | GAA | c.1826dup (p.Tyr609Ter) n.266dup c.214dup n.440dup | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.80112649_80112650delinsAC | CA2277815080 | GAA | c.1826_1827delinsAC (p.Tyr609=) n.266_267delinsAC c.214_215delinsAC n.440_441delinsAC | |
| 17 | g.80112650del | CA274153 | GAA | c.1827del (p.Tyr609Ter) n.267del c.215del n.441del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.80112650C>A | CA401369533 | GAA | c.1827C>A (p.Tyr609Ter) n.267C>A c.215C>A n.441C>A | ClinVar gnomAD v4 |
| 17 | g.80112650C= | CA2277815084 | GAA | c.1827C= (p.Tyr609=) n.267C= c.215C= n.441C= | |
| 17 | g.80112650C>G | CA401369534 | GAA | c.1827C>G (p.Tyr609Ter) n.267C>G c.215C>G n.441C>G | ClinVar gnomAD v4 |
| 17 | g.80112650C>T | CA8815491 | GAA | c.1827C>T (p.Tyr609=) n.267C>T c.215C>T n.441C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 17 | g.80112650_80112651insA | CA502402567 | GAA | c.1827_1828insA (p.Ala610SerfsTer26) c.1827_1828insA (p.Ala610SerfsTer?) n.267_268insA c.215_216insA n.441_442insA | |
| 17 | g.80112651G>A | CA8815492 | GAA | c.1828G>A (p.Ala610Thr) n.268G>A c.216G>A n.442G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.80112651G>C | CA401369539 | GAA | c.1828G>C (p.Ala610Pro) n.268G>C c.216G>C n.442G>C | |
| 17 | g.80112651G= | CA2277815087 | GAA | c.1828G= (p.Ala610=) n.268G= c.216G= n.442G= | |
| 17 | g.80112651G>T | CA401369541 | GAA | c.1828G>T (p.Ala610Ser) n.268G>T c.216G>T n.442G>T | |
| 17 | g.80112652C>A | CA401369542 | GAA | c.1829C>A (p.Ala610Asp) n.269C>A c.217C>A n.443C>A | |
| 17 | g.80112652C= | CA2277815088 | GAA | c.1829C= (p.Ala610=) n.269C= c.217C= n.443C= | |
| 17 | g.80112652C>G | CA401369544 | GAA | c.1829C>G (p.Ala610Gly) n.269C>G c.217C>G n.443C>G | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.80112652C>T | CA401369546 | GAA | c.1829C>T (p.Ala610Val) n.269C>T c.217C>T n.443C>T | gnomAD v4 |
| 17 | g.80112653C>A | CA502402568 | GAA | c.1830C>A (p.Ala610=) n.270C>A c.218C>A n.444C>A | gnomAD v4 |
| 17 | g.80112653C= | CA2277815090 | GAA | c.1830C= (p.Ala610=) n.270C= c.218C= n.444C= | |
| 17 | g.80112653C>G | CA502402570 | GAA | c.1830C>G (p.Ala610=) n.270C>G c.218C>G n.444C>G | dbSNP |
| 17 | g.80112653C>T | CA8815493 | GAA | c.1830C>T (p.Ala610=) n.270C>T c.218C>T n.444C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 17 | g.80112654G>A | CA401369553 | GAA | c.1831G>A (p.Gly611Ser) n.271G>A c.219G>A n.445G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.80112654G>C | CA401369549 | GAA | c.1831G>C (p.Gly611Arg) n.271G>C c.219G>C n.445G>C |