Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.70027863_70027874del | CA2580101362 | EDA | c.533_544del (p.Lys178_Pro182delinsThr) c.137_148del (p.Lys46_Pro50delinsThr) | ClinVar |
X | g.70027863_70027882delinsCTGAA | CA2695234199 | EDA | c.533_552delinsCTGAA (p.Lys178_Pro184delinsThrGlu) c.137_156delinsCTGAA (p.Lys46_Pro52delinsThrGlu) | |
X | g.70027865_70027901delinsGCAGGACCTCCTGGACCCAATGGCCCTCCAGGACCCC | CA2435979542 | EDA | c.535_571delinsGCAGGACCTCCTGGACCCAATGGCCCTCCAGGACCCC (p.Ala179=) c.139_175delinsGCAGGACCTCCTGGACCCAATGGCCCTCCAGGACCCC (p.Ala47=) | |
X | g.70027873_70027899del | CA2697553198 | EDA | c.543_569del (p.Pro182_Pro190del) c.147_173del (p.Pro50_Pro58del) | ClinVar |
X | g.70027876_70027911del | CA261494 | EDA | c.546_581del (p.Gly183_Pro194del) c.150_185del (p.Gly51_Pro62del) | ClinVar dbSNP gnomAD v4 |
X | g.70027876_70027893del | CA2693978765 | EDA | c.546_563del (p.Gly183_Pro188del) c.150_167del (p.Gly51_Pro56del) | gnomAD v4 |
X | g.70027873T>A | CA517012653 | EDA | c.543T>A (p.Pro181=) c.147T>A (p.Pro49=) | gnomAD v4 |
X | g.70027873T>C | CA517012654 | EDA | c.543T>C (p.Pro181=) c.147T>C (p.Pro49=) | gnomAD v4 |
X | g.70027873T>G | CA517012655 | EDA | c.543T>G (p.Pro181=) c.147T>G (p.Pro49=) | |
X | g.70027874C>A | CA413448209 | EDA | c.544C>A (p.Pro182Thr) c.148C>A (p.Pro50Thr) | gnomAD v4 |
X | g.70027874C= | CA2435979544 | EDA | c.544C= (p.Pro182=) c.148C= (p.Pro50=) | |
X | g.70027874C>G | CA413448211 | EDA | c.544C>G (p.Pro182Ala) c.148C>G (p.Pro50Ala) | dbSNP gnomAD v2 gnomAD v4 |
X | g.70027874C>T | CA413448210 | EDA | c.544C>T (p.Pro182Ser) c.148C>T (p.Pro50Ser) | |
X | g.70027875C>A | CA413448212 | EDA | c.545C>A (p.Pro182His) c.149C>A (p.Pro50His) | gnomAD v4 |
X | g.70027875C= | CA2435979545 | EDA | c.545C= (p.Pro182=) c.149C= (p.Pro50=) | |
X | g.70027875C>G | CA413448213 | EDA | c.545C>G (p.Pro182Arg) c.149C>G (p.Pro50Arg) | |
X | g.70027875C>T | CA413448214 | EDA | c.545C>T (p.Pro182Leu) c.149C>T (p.Pro50Leu) | dbSNP gnomAD v2 gnomAD v4 |
X | g.70027876T>A | CA517012656 | EDA | c.546T>A (p.Pro182=) c.150T>A (p.Pro50=) | dbSNP gnomAD v2 gnomAD v4 |
X | g.70027876T>C | CA517012657 | EDA | c.546T>C (p.Pro182=) c.150T>C (p.Pro50=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.70027876T>G | CA10438964 | EDA | c.546T>G (p.Pro182=) c.150T>G (p.Pro50=) | ClinVar dbSNP ExAC gnomAD v4 |
X | g.70027876T= | CA2435979547 | EDA | c.546T= (p.Pro182=) c.150T= (p.Pro50=) | |
X | g.70027876_70027912delinsTGGACCCAATGGCCCTCCAGGACCCCCAGGACCTCCA | CA2435979546 | EDA | c.546_582delinsTGGACCCAATGGCCCTCCAGGACCCCCAGGACCTCCA (p.Pro182=) c.150_186delinsTGGACCCAATGGCCCTCCAGGACCCCCAGGACCTCCA (p.Pro50=) | |
X | g.70027877G>A | CA413448215 | EDA | c.547G>A (p.Gly183Arg) c.151G>A (p.Gly51Arg) | gnomAD v4 |
X | g.70027877G>C | CA413448216 | EDA | c.547G>C (p.Gly183Arg) c.151G>C (p.Gly51Arg) | |
X | g.70027877G= | CA2435979548 | EDA | c.547G= (p.Gly183=) c.151G= (p.Gly51=) | |
X | g.70027877G>T | CA413448217 | EDA | c.547G>T (p.Gly183Ter) c.151G>T (p.Gly51Ter) | dbSNP gnomAD v2 gnomAD v4 |
X | g.70027878del | CA2579632459 | EDA | c.548del (p.Gly183AspfsTer?) c.152del (p.Gly51AspfsTer?) | |
X | g.70027882_70027908del | CA2573159012 | EDA | c.552_578del (p.Asn185_Pro193del) c.156_182del (p.Asn53_Pro61del) | ClinVar dbSNP |
X | g.70027883_70027918del | CA261496 | EDA | c.553_588del (p.Asn185_Pro196del) c.157_192del (p.Asn53_Pro64del) | ClinVar dbSNP |
X | g.70027878G>A | CA413448218 | EDA | c.548G>A (p.Gly183Glu) c.152G>A (p.Gly51Glu) | |
X | g.70027878G>C | CA413448219 | EDA | c.548G>C (p.Gly183Ala) c.152G>C (p.Gly51Ala) | |
X | g.70027878G>T | CA413448220 | EDA | c.548G>T (p.Gly183Val) c.152G>T (p.Gly51Val) | gnomAD v4 |
X | g.70027879A>C | CA517012660 | EDA | c.549A>C (p.Gly183=) c.153A>C (p.Gly51=) | |
X | g.70027879A>G | CA517012658 | EDA | c.549A>G (p.Gly183=) c.153A>G (p.Gly51=) | gnomAD v4 |
X | g.70027879A>T | CA517012659 | EDA | c.549A>T (p.Gly183=) c.153A>T (p.Gly51=) | |
X | g.70027880C>A | CA413448221 | EDA | c.550C>A (p.Pro184Thr) c.154C>A (p.Pro52Thr) | gnomAD v4 COSMIC COSMIC |
X | g.70027880C>G | CA413448222 | EDA | c.550C>G (p.Pro184Ala) c.154C>G (p.Pro52Ala) | |
X | g.70027880C>T | CA413448223 | EDA | c.550C>T (p.Pro184Ser) c.154C>T (p.Pro52Ser) | ClinVar gnomAD v4 |
X | g.70027882del | CA2693978766 | EDA | c.552del (p.Asn185MetfsTer?) c.156del (p.Asn53MetfsTer?) | gnomAD v4 |
X | g.70027881C>A | CA413448224 | EDA | c.551C>A (p.Pro184His) c.155C>A (p.Pro52His) | gnomAD v4 |
X | g.70027881C= | CA2435979549 | EDA | c.551C= (p.Pro184=) c.155C= (p.Pro52=) | |
X | g.70027881C>G | CA413448225 | EDA | c.551C>G (p.Pro184Arg) c.155C>G (p.Pro52Arg) | gnomAD v4 |
X | g.70027881C>T | CA413448226 | EDA | c.551C>T (p.Pro184Leu) c.155C>T (p.Pro52Leu) | dbSNP gnomAD v2 gnomAD v4 |
X | g.70027882C>A | CA517012661 | EDA | c.552C>A (p.Pro184=) c.156C>A (p.Pro52=) | ClinVar gnomAD v4 |
X | g.70027882C>G | CA517012662 | EDA | c.552C>G (p.Pro184=) c.156C>G (p.Pro52=) | gnomAD v4 |
X | g.70027882C>T | CA517012663 | EDA | c.552C>T (p.Pro184=) c.156C>T (p.Pro52=) | gnomAD v4 |
X | g.70027883A>C | CA413448227 | EDA | c.553A>C (p.Asn185His) c.157A>C (p.Asn53His) | |
X | g.70027883A>G | CA413448228 | EDA | c.553A>G (p.Asn185Asp) c.157A>G (p.Asn53Asp) | |
X | g.70027883A>T | CA413448229 | EDA | c.553A>T (p.Asn185Tyr) c.157A>T (p.Asn53Tyr) | gnomAD v4 |
X | g.70027884A= | CA2435979550 | EDA | c.554A= (p.Asn185=) c.158A= (p.Asn53=) |