| 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.70027935_70027961del | CA915951152 | EDA | c.605_631del (p.Ile202_Gly210del) c.209_235del (p.Ile70_Gly78del) | ClinVar dbSNP |
| X | g.70027942_70027959del | CA16621472 | EDA | c.612_629del (p.Ile205_Gly210del) c.216_233del (p.Ile73_Gly78del) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.70027944_70028029del | CA2499226813 | EDA | c.614_699del (p.Ile205ThrfsTer6) c.218_303del (p.Ile73ThrfsTer6) | ClinVar dbSNP |
| X | g.70027948_70027956del | CA2693978770 | EDA | c.618_626del (p.Gly207_Pro209del) c.222_230del (p.Gly75_Pro77del) | gnomAD v4 |
| X | g.70027956C>A | CA413448376 | EDA | c.626C>A (p.Pro209Gln) c.230C>A (p.Pro77Gln) | gnomAD v4 |
| X | g.70027956C= | CA2435979586 | EDA | c.626C= (p.Pro209=) c.230C= (p.Pro77=) | |
| X | g.70027956C>G | CA413448377 | EDA | c.626C>G (p.Pro209Arg) c.230C>G (p.Pro77Arg) | |
| X | g.70027956C>T | CA181048 | EDA | c.626C>T (p.Pro209Leu) c.230C>T (p.Pro77Leu) | ClinVar dbSNP |
| X | g.70027957A>C | CA517012728 | EDA | c.627A>C (p.Pro209=) c.231A>C (p.Pro77=) | |
| X | g.70027957A>G | CA517012730 | EDA | c.627A>G (p.Pro209=) c.231A>G (p.Pro77=) | |
| X | g.70027957A>T | CA517012729 | EDA | c.627A>T (p.Pro209=) c.231A>T (p.Pro77=) | |
| X | g.70027958G>A | CA413448378 | EDA | c.628G>A (p.Gly210Arg) c.232G>A (p.Gly78Arg) | ClinVar dbSNP |
| X | g.70027958G>C | CA413448379 | EDA | c.628G>C (p.Gly210Arg) c.232G>C (p.Gly78Arg) | ClinVar dbSNP |
| X | g.70027958G= | CA2435979587 | EDA | c.628G= (p.Gly210=) c.232G= (p.Gly78=) | |
| X | g.70027958G>T | CA413448380 | EDA | c.628G>T (p.Gly210Ter) c.232G>T (p.Gly78Ter) | ClinVar dbSNP gnomAD v4 |
| X | g.70027959G>A | CA413448381 | EDA | c.629G>A (p.Gly210Glu) c.233G>A (p.Gly78Glu) | gnomAD v4 |
| X | g.70027959G>C | CA413448382 | EDA | c.629G>C (p.Gly210Ala) c.233G>C (p.Gly78Ala) | |
| X | g.70027959G>T | CA413448383 | EDA | c.629G>T (p.Gly210Val) c.233G>T (p.Gly78Val) | |
| X | g.70027960A>C | CA517012731 | EDA | c.630A>C (p.Gly210=) c.234A>C (p.Gly78=) | |
| X | g.70027960A>G | CA517012732 | EDA | c.630A>G (p.Gly210=) c.234A>G (p.Gly78=) | |
| X | g.70027960A>T | CA517012733 | EDA | c.630A>T (p.Gly210=) c.234A>T (p.Gly78=) | |
| X | g.70027961A>C | CA413448386 | EDA | c.631A>C (p.Thr211Pro) c.235A>C (p.Thr79Pro) | |
| X | g.70027961A>G | CA413448385 | EDA | c.631A>G (p.Thr211Ala) c.235A>G (p.Thr79Ala) | |
| X | g.70027961A>T | CA413448384 | EDA | c.631A>T (p.Thr211Ser) c.235A>T (p.Thr79Ser) | |
| X | g.70027962C>A | CA413448387 | EDA | c.632C>A (p.Thr211Lys) c.236C>A (p.Thr79Lys) | gnomAD v4 |
| X | g.70027962C>G | CA413448388 | EDA | c.632C>G (p.Thr211Arg) c.236C>G (p.Thr79Arg) | ClinVar dbSNP |
| X | g.70027962C>T | CA413448389 | EDA | c.632C>T (p.Thr211Ile) c.236C>T (p.Thr79Ile) | gnomAD v4 |
| X | g.70027963A>C | CA517012734 | EDA | c.633A>C (p.Thr211=) c.237A>C (p.Thr79=) | |
| X | g.70027963A>G | CA517012736 | EDA | c.633A>G (p.Thr211=) c.237A>G (p.Thr79=) | |
| X | g.70027963A>T | CA517012735 | EDA | c.633A>T (p.Thr211=) c.237A>T (p.Thr79=) | |
| 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=) |