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.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 | ClinVar 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 | |
17 | g.80112654G= | CA2277815092 | GAA | c.1831G= (p.Gly611=) n.271G= c.219G= n.445G= | |
17 | g.80112654G>T | CA401369551 | GAA | c.1831G>T (p.Gly611Cys) n.271G>T c.219G>T n.445G>T | |
17 | g.80112656_80112662del | CA913184757 | GAA | c.1833_1839del (p.His612ArgfsTer?) n.273_279del c.221_227del n.447_453del | |
17 | g.80112655G>A | CA16041897 | GAA | c.1832G>A (p.Gly611Asp) n.272G>A c.220G>A n.446G>A | ClinVar dbSNP gnomAD v2 |
17 | g.80112655G>C | CA401369555 | GAA | c.1832G>C (p.Gly611Ala) n.272G>C c.220G>C n.446G>C | |
17 | g.80112655G= | CA2277815094 | GAA | c.1832G= (p.Gly611=) n.272G= c.220G= n.446G= | |
17 | g.80112655G>T | CA401369556 | GAA | c.1832G>T (p.Gly611Val) n.272G>T c.220G>T n.446G>T | |
17 | g.80112656C>A | CA502402573 | GAA | c.1833C>A (p.Gly611=) n.273C>A c.221C>A n.447C>A | |
17 | g.80112656C>G | CA502402574 | GAA | c.1833C>G (p.Gly611=) n.273C>G c.221C>G n.447C>G | |
17 | g.80112656C>T | CA502402572 | GAA | c.1833C>T (p.Gly611=) n.273C>T c.221C>T n.447C>T | ClinVar |
17 | g.80112656_80112670delinsACGGGGTAT | CA2695227103 | GAA | c.1833_1847delinsACGGGGTAT (p.His612_Asp616delinsArgGlyIle) n.273_287delinsACGGGGTAT c.221_235delinsACGGGGTAT n.447_461delinsACGGGGTAT | |
17 | g.80112657C>A | CA401369557 | GAA | c.1834C>A (p.His612Asn) n.274C>A c.222C>A n.448C>A | ClinVar dbSNP |
17 | g.80112657C= | CA2277815095 | GAA | c.1834C= (p.His612=) n.274C= c.222C= n.448C= | |
17 | g.80112657C>G | CA401369558 | GAA | c.1834C>G (p.His612Asp) n.274C>G c.222C>G n.448C>G | |
17 | g.80112657C>T | CA401369559 | GAA | c.1834C>T (p.His612Tyr) n.274C>T c.222C>T n.448C>T | dbSNP |
17 | g.80112658A= | CA2277815097 | GAA | c.1835A= (p.His612=) n.275A= c.223A= n.449A= | |
17 | g.80112658A>C | CA401369560 | GAA | c.1835A>C (p.His612Pro) n.275A>C c.223A>C n.449A>C | ClinVar dbSNP gnomAD v4 |
17 | g.80112658A>G | CA8815494 | GAA | c.1835A>G (p.His612Arg) n.275A>G c.223A>G n.449A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80112658A>T | CA401369562 | GAA | c.1835A>T (p.His612Leu) n.275A>T c.223A>T n.449A>T | |
17 | g.80112658_80112673del | CA2535645706 | GAA | c.1835_1850del (p.His612ArgfsTer?) n.275_290del c.223_238del n.449_464del | |
17 | g.80112659C>A | CA401369564 | GAA | c.1836C>A (p.His612Gln) n.276C>A c.224C>A n.450C>A | |
17 | g.80112659C= | CA2277815099 | GAA | c.1836C= (p.His612=) n.276C= c.224C= n.450C= | |
17 | g.80112659C>G | CA401369566 | GAA | c.1836C>G (p.His612Gln) n.276C>G c.224C>G n.450C>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.80112659C>T | CA8815495 | GAA | c.1836C>T (p.His612=) n.276C>T c.224C>T n.450C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80112660del | CA2640294752 | GAA | c.1837del (p.Trp613GlyfsTer?) n.277del c.225del n.451del | gnomAD v4 |
17 | g.80112660T>A | CA401369571 | GAA | c.1837T>A (p.Trp613Arg) n.277T>A c.225T>A n.451T>A | |
17 | g.80112660T>C | CA401369573 | GAA | c.1837T>C (p.Trp613Arg) n.277T>C c.225T>C n.451T>C | ClinVar dbSNP |
17 | g.80112660T>G | CA401369569 | GAA | c.1837T>G (p.Trp613Gly) n.277T>G c.225T>G n.451T>G | |
17 | g.80112660T= | CA2277815101 | GAA | c.1837T= (p.Trp613=) n.277T= c.225T= n.451T= | |
17 | g.80112661G>A | CA401369578 | GAA | c.1838G>A (p.Trp613Ter) n.278G>A c.226G>A n.452G>A | |
17 | g.80112661G>C | CA401369575 | GAA | c.1838G>C (p.Trp613Ser) n.278G>C c.226G>C n.452G>C | |
17 | g.80112661G>T | CA401369576 | GAA | c.1838G>T (p.Trp613Leu) n.278G>T c.226G>T n.452G>T | |
17 | g.80112662G>A | CA401369580 | GAA | c.1839G>A (p.Trp613Ter) n.279G>A c.227G>A n.453G>A |