Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.70027915_70028027del | CA2499226812 | EDA | c.585_697del (p.Pro196ThrfsTer6) c.189_301del (p.Pro64ThrfsTer6) | ClinVar dbSNP |
X | g.70027932_70028016del | CA2821678339 | EDA | c.602_686del (p.Gly201ValfsTer?) c.206_290del (p.Gly69ValfsTer?) | |
X | g.70027944_70028029del | CA2499226813 | EDA | c.614_699del (p.Ile205ThrfsTer6) c.218_303del (p.Ile73ThrfsTer6) | ClinVar dbSNP |
X | g.70027964A= | CA2435979588 | EDA | c.634A= (p.Thr212=) c.238A= (p.Thr80=) | |
X | g.70027964A>C | CA413448390 | EDA | c.634A>C (p.Thr212Pro) c.238A>C (p.Thr80Pro) | |
X | g.70027964A>G | CA413448391 | EDA | c.634A>G (p.Thr212Ala) c.238A>G (p.Thr80Ala) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
X | g.70027964A>T | CA413448392 | EDA | c.634A>T (p.Thr212Ser) c.238A>T (p.Thr80Ser) | |
X | g.70027965C>A | CA10438968 | EDA | c.635C>A (p.Thr212Asn) c.239C>A (p.Thr80Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.70027965C= | CA2435979589 | EDA | c.635C= (p.Thr212=) c.239C= (p.Thr80=) | |
X | g.70027965C>G | CA413448393 | EDA | c.635C>G (p.Thr212Ser) c.239C>G (p.Thr80Ser) | |
X | g.70027965C>T | CA413448394 | EDA | c.635C>T (p.Thr212Ile) c.239C>T (p.Thr80Ile) | |
X | g.70027966del | CA2695234206 | EDA | c.636del (p.Val213LeufsTer?) c.240del (p.Val81LeufsTer?) | |
X | g.70027966T>A | CA517012737 | EDA | c.636T>A (p.Thr212=) c.240T>A (p.Thr80=) | ClinVar |
X | g.70027966T>C | CA517012738 | EDA | c.636T>C (p.Thr212=) c.240T>C (p.Thr80=) | |
X | g.70027966T>G | CA517012739 | EDA | c.636T>G (p.Thr212=) c.240T>G (p.Thr80=) | |
X | g.70027967G>A | CA413448395 | EDA | c.637G>A (p.Val213Ile) c.241G>A (p.Val81Ile) | gnomAD v4 |
X | g.70027967G>C | CA413448396 | EDA | c.637G>C (p.Val213Leu) c.241G>C (p.Val81Leu) | |
X | g.70027967G>T | CA413448397 | EDA | c.637G>T (p.Val213Phe) c.241G>T (p.Val81Phe) | |
X | g.70027968T>A | CA413448399 | EDA | c.638T>A (p.Val213Asp) c.242T>A (p.Val81Asp) | |
X | g.70027968T>C | CA413448400 | EDA | c.638T>C (p.Val213Ala) c.242T>C (p.Val81Ala) | dbSNP gnomAD v2 gnomAD v4 |
X | g.70027968T>G | CA413448398 | EDA | c.638T>G (p.Val213Gly) c.242T>G (p.Val81Gly) | |
X | g.70027968T= | CA2435979590 | EDA | c.638T= (p.Val213=) c.242T= (p.Val81=) | |
X | g.70027968_70027969dup | CA2693978771 | EDA | c.638_639dup (p.Met214LeufsTer?) c.242_243dup (p.Met82LeufsTer?) | gnomAD v4 |
X | g.70027969del | CA2695234207 | EDA | c.639del (p.Met214TrpfsTer?) c.243del (p.Met82TrpfsTer?) | |
X | g.70027969T>A | CA517012740 | EDA | c.639T>A (p.Val213=) c.243T>A (p.Val81=) | |
X | g.70027969T>C | CA517012741 | EDA | c.639T>C (p.Val213=) c.243T>C (p.Val81=) | |
X | g.70027969T>G | CA517012742 | EDA | c.639T>G (p.Val213=) c.243T>G (p.Val81=) | dbSNP |
X | g.70027969T= | CA2435979591 | EDA | c.639T= (p.Val213=) c.243T= (p.Val81=) | |
X | g.70027970A>C | CA413448401 | EDA | c.640A>C (p.Met214Leu) c.244A>C (p.Met82Leu) | |
X | g.70027970A>G | CA413448402 | EDA | c.640A>G (p.Met214Val) c.244A>G (p.Met82Val) | gnomAD v4 |
X | g.70027970A>T | CA413448403 | EDA | c.640A>T (p.Met214Leu) c.244A>T (p.Met82Leu) | gnomAD v4 |
X | g.70027970dup | CA2695234208 | EDA | c.640dup (p.Met214AsnfsTer26) c.244dup (p.Met82AsnfsTer26) | |
X | g.70027971T>A | CA413448404 | EDA | c.641T>A (p.Met214Lys) c.245T>A (p.Met82Lys) | ClinVar dbSNP |
X | g.70027971T>C | CA413448405 | EDA | c.641T>C (p.Met214Thr) c.245T>C (p.Met82Thr) | |
X | g.70027971T>G | CA413448406 | EDA | c.641T>G (p.Met214Arg) c.245T>G (p.Met82Arg) | |
X | g.70027971T= | CA2435979592 | EDA | c.641T= (p.Met214=) c.245T= (p.Met82=) | |
X | g.70027972G>A | CA413448407 | EDA | c.642G>A (p.Met214Ile) c.246G>A (p.Met82Ile) | |
X | g.70027972G>C | CA413448408 | EDA | c.642G>C (p.Met214Ile) c.246G>C (p.Met82Ile) | |
X | g.70027972G>T | CA413448409 | EDA | c.642G>T (p.Met214Ile) c.246G>T (p.Met82Ile) | |
X | g.70027972_70028008delinsGGGACCACCTGGTCCTCCAGGTCCTCCTGGTCCTCAA | CA2435979593 | EDA | c.642_678delinsGGGACCACCTGGTCCTCCAGGTCCTCCTGGTCCTCAA (p.Met214=) c.246_282delinsGGGACCACCTGGTCCTCCAGGTCCTCCTGGTCCTCAA (p.Met82=) | |
X | g.70027973G>A | CA413448410 | EDA | c.643G>A (p.Gly215Arg) c.247G>A (p.Gly83Arg) | |
X | g.70027973G>C | CA413448411 | EDA | c.643G>C (p.Gly215Arg) c.247G>C (p.Gly83Arg) | |
X | g.70027973G>T | CA413448412 | EDA | c.643G>T (p.Gly215Ter) c.247G>T (p.Gly83Ter) | ClinVar dbSNP |
X | g.70027978_70028013del | CA10577173 | EDA | c.648_683del (p.Pro217_Pro228del) c.252_287del (p.Pro85_Pro96del) | ClinVar dbSNP |
X | g.70027974G>A | CA413448415 | EDA | c.644G>A (p.Gly215Glu) c.248G>A (p.Gly83Glu) | ClinVar |
X | g.70027974G>C | CA413448414 | EDA | c.644G>C (p.Gly215Ala) c.248G>C (p.Gly83Ala) | |
X | g.70027974G>T | CA413448413 | EDA | c.644G>T (p.Gly215Val) c.248G>T (p.Gly83Val) | gnomAD v4 |
X | g.70027975A>C | CA517012743 | EDA | c.645A>C (p.Gly215=) c.249A>C (p.Gly83=) | gnomAD v4 |
X | g.70027975A>G | CA517012744 | EDA | c.645A>G (p.Gly215=) c.249A>G (p.Gly83=) | |
X | g.70027975A>T | CA517012745 | EDA | c.645A>T (p.Gly215=) c.249A>T (p.Gly83=) |