| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.70033502_70033536del | CA2695234461 | EDA | c.898_924+8del c.898_918+14del c.889_909+14del c.502_528+8del c.889_915+8del c.882+16_882+50del (n.882+16_882+50del) | |
| X | g.70033506_70033509del | CA2695234462 | EDA | c.902_905del (p.Tyr301SerfsTer6) c.902_905del (p.Tyr301SerfsTer?) c.893_896del (p.Tyr298SerfsTer?) c.506_509del (p.Tyr169SerfsTer6) c.893_896del (p.Tyr298SerfsTer6) c.882+20_882+23del (n.882+20_882+23del) | |
| X | g.70033506A= | CA2435981323 | EDA | c.902A= (p.Tyr301=) c.893A= (p.Tyr298=) c.506A= (p.Tyr169=) c.882+20A= (n.882+20A=) | |
| X | g.70033506A>C | CA413448986 | EDA | c.902A>C (p.Tyr301Ser) c.893A>C (p.Tyr298Ser) c.506A>C (p.Tyr169Ser) c.882+20A>C (n.882+20A>C) | |
| X | g.70033506A>G | CA261510 | EDA | c.902A>G (p.Tyr301Cys) c.893A>G (p.Tyr298Cys) c.506A>G (p.Tyr169Cys) c.882+20A>G (n.882+20A>G) | ClinVar dbSNP |
| X | g.70033506A>T | CA413448988 | EDA | c.902A>T (p.Tyr301Phe) c.893A>T (p.Tyr298Phe) c.506A>T (p.Tyr169Phe) c.882+20A>T (n.882+20A>T) | |
| X | g.70033507C>A | CA413448990 | EDA | c.903C>A (p.Tyr301Ter) c.894C>A (p.Tyr298Ter) c.507C>A (p.Tyr169Ter) c.882+21C>A (n.882+21C>A) | |
| X | g.70033507C= | CA2435981324 | EDA | c.903C= (p.Tyr301=) c.894C= (p.Tyr298=) c.507C= (p.Tyr169=) c.882+21C= (n.882+21C=) | |
| X | g.70033507C>G | CA413448992 | EDA | c.903C>G (p.Tyr301Ter) c.894C>G (p.Tyr298Ter) c.507C>G (p.Tyr169Ter) c.882+21C>G (n.882+21C>G) | |
| X | g.70033507C>T | CA517014255 | EDA | c.903C>T (p.Tyr301=) c.894C>T (p.Tyr298=) c.507C>T (p.Tyr169=) c.882+21C>T (n.882+21C>T) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.70033508T>A | CA413448994 | EDA | c.904T>A (p.Phe302Ile) c.895T>A (p.Phe299Ile) c.508T>A (p.Phe170Ile) c.882+22T>A (n.882+22T>A) | |
| X | g.70033508T>C | CA413448998 | EDA | c.904T>C (p.Phe302Leu) c.895T>C (p.Phe299Leu) c.508T>C (p.Phe170Leu) c.882+22T>C (n.882+22T>C) | ClinVar |
| X | g.70033508T>G | CA413448996 | EDA | c.904T>G (p.Phe302Val) c.895T>G (p.Phe299Val) c.508T>G (p.Phe170Val) c.882+22T>G (n.882+22T>G) | |
| X | g.70033509T>A | CA413449000 | EDA | c.905T>A (p.Phe302Tyr) c.896T>A (p.Phe299Tyr) c.509T>A (p.Phe170Tyr) c.882+23T>A (n.882+23T>A) | |
| X | g.70033509T>C | CA413449002 | EDA | c.905T>C (p.Phe302Ser) c.896T>C (p.Phe299Ser) c.509T>C (p.Phe170Ser) c.882+23T>C (n.882+23T>C) | |
| X | g.70033509T>G | CA413449003 | EDA | c.905T>G (p.Phe302Cys) c.896T>G (p.Phe299Cys) c.509T>G (p.Phe170Cys) c.882+23T>G (n.882+23T>G) | |
| X | g.70033510C>A | CA413449005 | EDA | c.906C>A (p.Phe302Leu) c.897C>A (p.Phe299Leu) c.510C>A (p.Phe170Leu) c.882+24C>A (n.882+24C>A) | |
| X | g.70033510C>G | CA413449007 | EDA | c.906C>G (p.Phe302Leu) c.897C>G (p.Phe299Leu) c.510C>G (p.Phe170Leu) c.882+24C>G (n.882+24C>G) | |
| X | g.70033510C>T | CA517014268 | EDA | c.906C>T (p.Phe302=) c.897C>T (p.Phe299=) c.510C>T (p.Phe170=) c.882+24C>T (n.882+24C>T) | |
| X | g.70033511A>C | CA413449009 | EDA | c.907A>C (p.Ile303Leu) c.898A>C (p.Ile300Leu) c.511A>C (p.Ile171Leu) c.882+25A>C (n.882+25A>C) | gnomAD v4 |
| X | g.70033511A>G | CA413449011 | EDA | c.907A>G (p.Ile303Val) c.898A>G (p.Ile300Val) c.511A>G (p.Ile171Val) c.882+25A>G (n.882+25A>G) | gnomAD v4 |
| X | g.70033511A>T | CA413449013 | EDA | c.907A>T (p.Ile303Phe) c.898A>T (p.Ile300Phe) c.511A>T (p.Ile171Phe) c.882+25A>T (n.882+25A>T) | |
| X | g.70033512T>A | CA413449015 | EDA | c.908T>A (p.Ile303Asn) c.899T>A (p.Ile300Asn) c.512T>A (p.Ile171Asn) c.882+26T>A (n.882+26T>A) | |
| X | g.70033512T>C | CA413449016 | EDA | c.908T>C (p.Ile303Thr) c.899T>C (p.Ile300Thr) c.512T>C (p.Ile171Thr) c.882+26T>C (n.882+26T>C) | |
| X | g.70033512T>G | CA413449019 | EDA | c.908T>G (p.Ile303Ser) c.899T>G (p.Ile300Ser) c.512T>G (p.Ile171Ser) c.882+26T>G (n.882+26T>G) | |
| X | g.70033513C>A | CA517014276 | EDA | c.909C>A (p.Ile303=) c.900C>A (p.Ile300=) c.513C>A (p.Ile171=) c.882+27C>A (n.882+27C>A) | |
| X | g.70033513C= | CA2435981325 | EDA | c.909C= (p.Ile303=) c.900C= (p.Ile300=) c.513C= (p.Ile171=) c.882+27C= (n.882+27C=) | |
| X | g.70033513C>G | CA413449021 | EDA | c.909C>G (p.Ile303Met) c.900C>G (p.Ile300Met) c.513C>G (p.Ile171Met) c.882+27C>G (n.882+27C>G) | |
| X | g.70033513C>T | CA517014279 | EDA | c.909C>T (p.Ile303=) c.900C>T (p.Ile300=) c.513C>T (p.Ile171=) c.882+27C>T (n.882+27C>T) | |
| X | g.70033514T>A | CA413449026 | EDA | c.910T>A (p.Tyr304Asn) c.901T>A (p.Tyr301Asn) c.514T>A (p.Tyr172Asn) c.882+28T>A (n.882+28T>A) | |
| X | g.70033514T>C | CA413449023 | EDA | c.910T>C (p.Tyr304His) c.901T>C (p.Tyr301His) c.514T>C (p.Tyr172His) c.882+28T>C (n.882+28T>C) | |
| X | g.70033514T>G | CA413449025 | EDA | c.910T>G (p.Tyr304Asp) c.901T>G (p.Tyr301Asp) c.514T>G (p.Tyr172Asp) c.882+28T>G (n.882+28T>G) | ClinVar |
| X | g.70033516_70033517dup | CA913184723 | EDA | c.912_913dup (p.Ser305IlefsTer4) c.912_913dup (p.Ser305IlefsTer?) c.903_904dup (p.Ser302IlefsTer?) c.516_517dup (p.Ser173IlefsTer4) c.903_904dup (p.Ser302IlefsTer4) c.882+30_882+31dup (n.882+30_882+31dup) | ClinVar dbSNP |
| X | g.70033514_70033517dup | CA2695234464 | EDA | c.910_913dup (p.Ser305IlefsTer2) c.901_904dup (p.Ser302IlefsTer2) c.514_517dup (p.Ser173IlefsTer2) c.882+28_882+31dup (n.882+28_882+31dup) | |
| X | g.70033516_70033525del | CA2695234463 | EDA | c.912_921del (p.Tyr304Ter) c.912_918+3del c.903_909+3del c.516_525del (p.Tyr172Ter) c.903_912del (p.Tyr301Ter) c.882+30_882+39del (n.882+30_882+39del) | |
| X | g.70033515A= | CA2435981326 | EDA | c.911A= (p.Tyr304=) c.902A= (p.Tyr301=) c.515A= (p.Tyr172=) c.882+29A= (n.882+29A=) | |
| X | g.70033515A>C | CA10577178 | EDA | c.911A>C (p.Tyr304Ser) c.902A>C (p.Tyr301Ser) c.515A>C (p.Tyr172Ser) c.882+29A>C (n.882+29A>C) | ClinVar dbSNP |
| X | g.70033515A>G | CA413449028 | EDA | c.911A>G (p.Tyr304Cys) c.902A>G (p.Tyr301Cys) c.515A>G (p.Tyr172Cys) c.882+29A>G (n.882+29A>G) | |
| X | g.70033515A>T | CA413449029 | EDA | c.911A>T (p.Tyr304Phe) c.902A>T (p.Tyr301Phe) c.515A>T (p.Tyr172Phe) c.882+29A>T (n.882+29A>T) | |
| X | g.70033516T>A | CA413449030 | EDA | c.912T>A (p.Tyr304Ter) c.903T>A (p.Tyr301Ter) c.516T>A (p.Tyr172Ter) c.882+30T>A (n.882+30T>A) | |
| X | g.70033516T>C | CA517014288 | EDA | c.912T>C (p.Tyr304=) c.903T>C (p.Tyr301=) c.516T>C (p.Tyr172=) c.882+30T>C (n.882+30T>C) | |
| X | g.70033516T>G | CA413449031 | EDA | c.912T>G (p.Tyr304Ter) c.903T>G (p.Tyr301Ter) c.516T>G (p.Tyr172Ter) c.882+30T>G (n.882+30T>G) | |
| X | g.70033519_70033526del | CA2695234465 | EDA | c.915_922del (p.Ser305ArgfsTer9) c.915_918+4del c.906_909+4del c.519_526del (p.Ser173ArgfsTer9) c.906_913del (p.Ser302ArgfsTer9) c.882+33_882+40del (n.882+33_882+40del) | |
| X | g.70033517A>C | CA413449033 | EDA | c.913A>C (p.Ser305Arg) c.904A>C (p.Ser302Arg) c.517A>C (p.Ser173Arg) c.882+31A>C (n.882+31A>C) | |
| X | g.70033517A>G | CA413449035 | EDA | c.913A>G (p.Ser305Gly) c.904A>G (p.Ser302Gly) c.517A>G (p.Ser173Gly) c.882+31A>G (n.882+31A>G) | |
| X | g.70033517A>T | CA413449036 | EDA | c.913A>T (p.Ser305Cys) c.904A>T (p.Ser302Cys) c.517A>T (p.Ser173Cys) c.882+31A>T (n.882+31A>T) | |
| X | g.70033518G>A | CA413449039 | EDA | c.914G>A (p.Ser305Asn) c.905G>A (p.Ser302Asn) c.518G>A (p.Ser173Asn) c.882+32G>A (n.882+32G>A) | ClinVar dbSNP |
| X | g.70033518G>C | CA413449041 | EDA | c.914G>C (p.Ser305Thr) c.905G>C (p.Ser302Thr) c.518G>C (p.Ser173Thr) c.882+32G>C (n.882+32G>C) | |
| X | g.70033518G= | CA2435981327 | EDA | c.914G= (p.Ser305=) c.905G= (p.Ser302=) c.518G= (p.Ser173=) c.882+32G= (n.882+32G=) | |
| X | g.70033518G>T | CA413449043 | EDA | c.914G>T (p.Ser305Ile) c.905G>T (p.Ser302Ile) c.518G>T (p.Ser173Ile) c.882+32G>T (n.882+32G>T) |