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.70027944_70028029del | CA2499226813 | EDA | c.614_699del (p.Ile205ThrfsTer6) c.218_303del (p.Ile73ThrfsTer6) | ClinVar dbSNP |
X | g.70027972_70028008delinsGGGACCACCTGGTCCTCCAGGTCCTCCTGGTCCTCAA | CA2435979593 | EDA | c.642_678delinsGGGACCACCTGGTCCTCCAGGTCCTCCTGGTCCTCAA (p.Met214=) c.246_282delinsGGGACCACCTGGTCCTCCAGGTCCTCCTGGTCCTCAA (p.Met82=) | |
X | g.70027978_70028013del | CA10577173 | EDA | c.648_683del (p.Pro217_Pro228del) c.252_287del (p.Pro85_Pro96del) | ClinVar dbSNP |
X | g.70027989_70028006del | CA10577176 | EDA | c.659_676del (p.Pro220_Pro225del) c.263_280del (p.Pro88_Pro93del) | ClinVar dbSNP |
X | g.70027984_70028019delinsTCCTCCAGGTCCTCCTGGTCCTCAAGGACCCCCTGG | CA2435979598 | EDA | c.654_689delinsTCCTCCAGGTCCTCCTGGTCCTCAAGGACCCCCTGG (p.Gly218=) c.258_293delinsTCCTCCAGGTCCTCCTGGTCCTCAAGGACCCCCTGG (p.Gly86=) | |
X | g.70027993_70028027del | CA261500 | EDA | c.663_697del (p.Pro222ThrfsTer6) c.267_301del (p.Pro90ThrfsTer6) | ClinVar dbSNP |
X | g.70027993_70028010del | CA2695234210 | EDA | c.663_680del (p.Pro222_Gly227del) c.267_284del (p.Pro90_Gly95del) | |
X | g.70027998_70028006del | CA877772593 | EDA | c.668_676del (p.Pro223_Pro225del) c.272_280del (p.Pro91_Pro93del) | dbSNP gnomAD v3 gnomAD v4 |
X | g.70027997_70028033delinsCCTGGTCCTCAAGGACCCCCTGGCCTCCAGGGACCTT | CA2435979601 | EDA | c.667_703delinsCCTGGTCCTCAAGGACCCCCTGGCCTCCAGGGACCTT (p.Pro223=) c.271_307delinsCCTGGTCCTCAAGGACCCCCTGGCCTCCAGGGACCTT (p.Pro91=) | |
X | g.70028003_70028038del | CA916083963 | EDA | c.673_706+2del c.277_310+2del | ClinVar dbSNP |
X | g.70028001G>A | CA413448466 | EDA | c.671G>A (p.Gly224Asp) c.275G>A (p.Gly92Asp) | |
X | g.70028001G>C | CA255656 | EDA | c.671G>C (p.Gly224Ala) c.275G>C (p.Gly92Ala) | ClinVar dbSNP |
X | g.70028001G= | CA2435979604 | EDA | c.671G= (p.Gly224=) c.275G= (p.Gly92=) | |
X | g.70028001G>T | CA413448467 | EDA | c.671G>T (p.Gly224Val) c.275G>T (p.Gly92Val) | |
X | g.70028002T>A | CA517012770 | EDA | c.672T>A (p.Gly224=) c.276T>A (p.Gly92=) | |
X | g.70028002T>C | CA517012771 | EDA | c.672T>C (p.Gly224=) c.276T>C (p.Gly92=) | ClinVar gnomAD v4 |
X | g.70028002T>G | CA517012772 | EDA | c.672T>G (p.Gly224=) c.276T>G (p.Gly92=) | |
X | g.70028003C>A | CA413448468 | EDA | c.673C>A (p.Pro225Thr) c.277C>A (p.Pro93Thr) | gnomAD v4 |
X | g.70028003C>G | CA413448469 | EDA | c.673C>G (p.Pro225Ala) c.277C>G (p.Pro93Ala) | |
X | g.70028003C>T | CA413448470 | EDA | c.673C>T (p.Pro225Ser) c.277C>T (p.Pro93Ser) | |
X | g.70028004C>A | CA413448471 | EDA | c.674C>A (p.Pro225His) c.278C>A (p.Pro93His) | gnomAD v4 |
X | g.70028004C>G | CA413448472 | EDA | c.674C>G (p.Pro225Arg) c.278C>G (p.Pro93Arg) | |
X | g.70028004C>T | CA413448473 | EDA | c.674C>T (p.Pro225Leu) c.278C>T (p.Pro93Leu) | |
X | g.70028005T>A | CA517012773 | EDA | c.675T>A (p.Pro225=) c.279T>A (p.Pro93=) | |
X | g.70028005T>C | CA517012774 | EDA | c.675T>C (p.Pro225=) c.279T>C (p.Pro93=) | gnomAD v4 |
X | g.70028005T>G | CA517012775 | EDA | c.675T>G (p.Pro225=) c.279T>G (p.Pro93=) | gnomAD v4 |
X | g.70028006C>A | CA413448475 | EDA | c.676C>A (p.Gln226Lys) c.280C>A (p.Gln94Lys) | gnomAD v4 |
X | g.70028006C= | CA2435979605 | EDA | c.676C= (p.Gln226=) c.280C= (p.Gln94=) | |
X | g.70028006C>G | CA413448474 | EDA | c.676C>G (p.Gln226Glu) c.280C>G (p.Gln94Glu) | |
X | g.70028006C>T | CA273141 | EDA | c.676C>T (p.Gln226Ter) c.280C>T (p.Gln94Ter) | ClinVar dbSNP gnomAD v4 |
X | g.70028007A>C | CA413448476 | EDA | c.677A>C (p.Gln226Pro) c.281A>C (p.Gln94Pro) | |
X | g.70028007A>G | CA413448477 | EDA | c.677A>G (p.Gln226Arg) c.281A>G (p.Gln94Arg) | |
X | g.70028007A>T | CA413448478 | EDA | c.677A>T (p.Gln226Leu) c.281A>T (p.Gln94Leu) | |
X | g.70028007_70028024delinsAAGGACCCCCTGGCCTCC | CA2435979606 | EDA | c.677_694delinsAAGGACCCCCTGGCCTCC (p.Gln226=) c.281_298delinsAAGGACCCCCTGGCCTCC (p.Gln94=) | |
X | g.70028008A>C | CA413448479 | EDA | c.678A>C (p.Gln226His) c.282A>C (p.Gln94His) | |
X | g.70028008A>G | CA517012776 | EDA | c.678A>G (p.Gln226=) c.282A>G (p.Gln94=) | |
X | g.70028008A>T | CA413448480 | EDA | c.678A>T (p.Gln226His) c.282A>T (p.Gln94His) | gnomAD v4 |
X | g.70028011_70028027del | CA658799777 | EDA | c.681_697del (p.Pro228ThrfsTer6) c.285_301del (p.Pro96ThrfsTer6) | ClinVar dbSNP |
X | g.70028009G>A | CA413448481 | EDA | c.679G>A (p.Gly227Arg) c.283G>A (p.Gly95Arg) | gnomAD v4 |
X | g.70028009G>C | CA413448482 | EDA | c.679G>C (p.Gly227Arg) c.283G>C (p.Gly95Arg) | |
X | g.70028009G>T | CA413448483 | EDA | c.679G>T (p.Gly227Ter) c.283G>T (p.Gly95Ter) | gnomAD v4 |
X | g.70028014_70028031del | CA2693978773 | EDA | c.684_701del (p.Pro229_Pro234del) c.288_305del (p.Pro97_Pro102del) | gnomAD v4 |
X | g.70028010G>A | CA413448484 | EDA | c.680G>A (p.Gly227Glu) c.284G>A (p.Gly95Glu) | |
X | g.70028010G>C | CA413448485 | EDA | c.680G>C (p.Gly227Ala) c.284G>C (p.Gly95Ala) | |
X | g.70028010G>T | CA413448486 | EDA | c.680G>T (p.Gly227Val) c.284G>T (p.Gly95Val) | gnomAD v4 |
X | g.70028011A= | CA2435979607 | EDA | c.681A= (p.Gly227=) c.285A= (p.Gly95=) | |
X | g.70028011A>C | CA517012777 | EDA | c.681A>C (p.Gly227=) c.285A>C (p.Gly95=) | |
X | g.70028011A>G | CA517012778 | EDA | c.681A>G (p.Gly227=) c.285A>G (p.Gly95=) | |
X | g.70028011A>T | CA517012779 | EDA | c.681A>T (p.Gly227=) c.285A>T (p.Gly95=) | dbSNP gnomAD v3 gnomAD v4 |