| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.127339175A>C | CA360822111 | MEGF10 | c.172A>C (p.Thr58Pro) c.337A>C (p.Thr113Pro) | |
| 5 | g.127339175A>G | CA360822113 | MEGF10 | c.172A>G (p.Thr58Ala) c.337A>G (p.Thr113Ala) | |
| 5 | g.127339175A>T | CA360822112 | MEGF10 | c.172A>T (p.Thr58Ser) c.337A>T (p.Thr113Ser) | dbSNP |
| 5 | g.127339176C>A | CA360822114 | MEGF10 | c.173C>A (p.Thr58Lys) c.338C>A (p.Thr113Lys) | |
| 5 | g.127339176C= | CA1580813918 | MEGF10 | c.173C= (p.Thr58=) c.338C= (p.Thr113=) | |
| 5 | g.127339176C>G | CA360822115 | MEGF10 | c.173C>G (p.Thr58Arg) c.338C>G (p.Thr113Arg) | |
| 5 | g.127339176C>T | CA127484494 | MEGF10 | c.173C>T (p.Thr58Met) c.338C>T (p.Thr113Met) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.127339177G>A | CA3391190 | MEGF10 | c.174G>A (p.Thr58=) c.339G>A (p.Thr113=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.127339177G>C | CA446422579 | MEGF10 | c.174G>C (p.Thr58=) c.339G>C (p.Thr113=) | |
| 5 | g.127339177G= | CA1580813919 | MEGF10 | c.174G= (p.Thr58=) c.339G= (p.Thr113=) | |
| 5 | g.127339177G>T | CA3391191 | MEGF10 | c.174G>T (p.Thr58=) c.339G>T (p.Thr113=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.127339178A>C | CA360822116 | MEGF10 | c.175A>C (p.Ser59Arg) c.340A>C (p.Ser114Arg) | |
| 5 | g.127339178A>G | CA360822117 | MEGF10 | c.175A>G (p.Ser59Gly) c.340A>G (p.Ser114Gly) | |
| 5 | g.127339178A>T | CA360822118 | MEGF10 | c.175A>T (p.Ser59Cys) c.340A>T (p.Ser114Cys) | |
| 5 | g.127339179G>A | CA360822119 | MEGF10 | c.176G>A (p.Ser59Asn) c.341G>A (p.Ser114Asn) | |
| 5 | g.127339179G>C | CA360822120 | MEGF10 | c.176G>C (p.Ser59Thr) c.341G>C (p.Ser114Thr) | |
| 5 | g.127339179G>T | CA360822121 | MEGF10 | c.176G>T (p.Ser59Ile) c.341G>T (p.Ser114Ile) | |
| 5 | g.127339180C>A | CA360822122 | MEGF10 | c.177C>A (p.Ser59Arg) c.342C>A (p.Ser114Arg) | |
| 5 | g.127339180C>G | CA360822123 | MEGF10 | c.177C>G (p.Ser59Arg) c.342C>G (p.Ser114Arg) | |
| 5 | g.127339180C>T | CA446422590 | MEGF10 | c.177C>T (p.Ser59=) c.342C>T (p.Ser114=) | |
| 5 | g.127339181T>A | CA360822126 | MEGF10 | c.178T>A (p.Cys60Ser) c.343T>A (p.Cys115Ser) | |
| 5 | g.127339181T>C | CA360822125 | MEGF10 | c.178T>C (p.Cys60Arg) c.343T>C (p.Cys115Arg) | |
| 5 | g.127339181T>G | CA360822124 | MEGF10 | c.178T>G (p.Cys60Gly) c.343T>G (p.Cys115Gly) | |
| 5 | g.127339182G>A | CA360822127 | MEGF10 | c.179G>A (p.Cys60Tyr) c.344G>A (p.Cys115Tyr) | |
| 5 | g.127339182G>C | CA360822128 | MEGF10 | c.179G>C (p.Cys60Ser) c.344G>C (p.Cys115Ser) | gnomAD v4 |
| 5 | g.127339182G>T | CA360822129 | MEGF10 | c.179G>T (p.Cys60Phe) c.344G>T (p.Cys115Phe) | |
| 5 | g.127339183C>A | CA360822130 | MEGF10 | c.180C>A (p.Cys60Ter) c.345C>A (p.Cys115Ter) | |
| 5 | g.127339183C>G | CA360822131 | MEGF10 | c.180C>G (p.Cys60Trp) c.345C>G (p.Cys115Trp) | |
| 5 | g.127339183C>T | CA446422601 | MEGF10 | c.180C>T (p.Cys60=) c.345C>T (p.Cys115=) | |
| 5 | g.127339184A= | CA1580813920 | MEGF10 | c.181A= (p.Thr61=) c.346A= (p.Thr116=) | |
| 5 | g.127339184A>C | CA360822132 | MEGF10 | c.181A>C (p.Thr61Pro) c.346A>C (p.Thr116Pro) | gnomAD v4 |
| 5 | g.127339184A>G | CA360822133 | MEGF10 | c.181A>G (p.Thr61Ala) c.346A>G (p.Thr116Ala) | dbSNP |
| 5 | g.127339184A>T | CA360822134 | MEGF10 | c.181A>T (p.Thr61Ser) c.346A>T (p.Thr116Ser) | |
| 5 | g.127339185C>A | CA360822135 | MEGF10 | c.182C>A (p.Thr61Asn) c.347C>A (p.Thr116Asn) | |
| 5 | g.127339185C>G | CA360822136 | MEGF10 | c.182C>G (p.Thr61Ser) c.347C>G (p.Thr116Ser) | gnomAD v4 |
| 5 | g.127339185C>T | CA360822137 | MEGF10 | c.182C>T (p.Thr61Ile) c.347C>T (p.Thr116Ile) | gnomAD v4 |
| 5 | g.127339186T>A | CA446422606 | MEGF10 | c.183T>A (p.Thr61=) c.348T>A (p.Thr116=) | |
| 5 | g.127339186T>C | CA446422604 | MEGF10 | c.183T>C (p.Thr61=) c.348T>C (p.Thr116=) | ClinVar dbSNP gnomAD v4 |
| 5 | g.127339186T>G | CA446422603 | MEGF10 | c.183T>G (p.Thr61=) c.348T>G (p.Thr116=) | |
| 5 | g.127339186T= | CA1580813921 | MEGF10 | c.183T= (p.Thr61=) c.348T= (p.Thr116=) | |
| 5 | g.127339187G>A | CA360822138 | MEGF10 | c.184G>A (p.Asp62Asn) c.349G>A (p.Asp117Asn) | |
| 5 | g.127339187G>C | CA360822139 | MEGF10 | c.184G>C (p.Asp62His) c.349G>C (p.Asp117His) | dbSNP |
| 5 | g.127339187G= | CA1580813922 | MEGF10 | c.184G= (p.Asp62=) c.349G= (p.Asp117=) | |
| 5 | g.127339187G>T | CA360822140 | MEGF10 | c.184G>T (p.Asp62Tyr) c.349G>T (p.Asp117Tyr) | |
| 5 | g.127339188A>C | CA360822143 | MEGF10 | c.185A>C (p.Asp62Ala) c.350A>C (p.Asp117Ala) | |
| 5 | g.127339188A>G | CA360822142 | MEGF10 | c.185A>G (p.Asp62Gly) c.350A>G (p.Asp117Gly) | ClinVar |
| 5 | g.127339188A>T | CA360822141 | MEGF10 | c.185A>T (p.Asp62Val) c.350A>T (p.Asp117Val) | |
| 5 | g.127339189C>A | CA360822144 | MEGF10 | c.186C>A (p.Asp62Glu) c.351C>A (p.Asp117Glu) | |
| 5 | g.127339189C= | CA1580813923 | MEGF10 | c.186C= (p.Asp62=) c.351C= (p.Asp117=) | |
| 5 | g.127339189C>G | CA360822145 | MEGF10 | c.186C>G (p.Asp62Glu) c.351C>G (p.Asp117Glu) | |
| 5 | g.127339189C>T | CA127484495 | MEGF10 | c.186C>T (p.Asp62=) c.351C>T (p.Asp117=) | dbSNP |
| 5 | g.127339190A>C | CA360822146 | MEGF10 | c.187A>C (p.Ile63Leu) c.352A>C (p.Ile118Leu) | |
| 5 | g.127339190A>G | CA360822147 | MEGF10 | c.187A>G (p.Ile63Val) c.352A>G (p.Ile118Val) | gnomAD v4 |
| 5 | g.127339190A>T | CA360822148 | MEGF10 | c.187A>T (p.Ile63Phe) c.352A>T (p.Ile118Phe) | |
| 5 | g.127339190_127339203delinsATTCTAAACTGGTT | CA1580813924 | MEGF10 | c.187_200delinsATTCTAAACTGGTT (p.Ile63=) c.352_365delinsATTCTAAACTGGTT (p.Ile118=) | |
| 5 | g.127339191T>A | CA360822151 | MEGF10 | c.188T>A (p.Ile63Asn) c.353T>A (p.Ile118Asn) | |
| 5 | g.127339191T>C | CA360822150 | MEGF10 | c.188T>C (p.Ile63Thr) c.353T>C (p.Ile118Thr) | |
| 5 | g.127339191T>G | CA360822149 | MEGF10 | c.188T>G (p.Ile63Ser) c.353T>G (p.Ile118Ser) | |
| 5 | g.127339192_127339204del | CA1580813925 | MEGF10 | c.189_201del (p.Leu64AsnfsTer?) c.354_366del (p.Leu119AsnfsTer?) | dbSNP |
| 5 | g.127339192T>A | CA446422621 | MEGF10 | c.189T>A (p.Ile63=) c.354T>A (p.Ile118=) | |
| 5 | g.127339192T>C | CA446422622 | MEGF10 | c.189T>C (p.Ile63=) c.354T>C (p.Ile118=) | |
| 5 | g.127339192T>G | CA360822152 | MEGF10 | c.189T>G (p.Ile63Met) c.354T>G (p.Ile118Met) | |
| 5 | g.127339193C>A | CA360822153 | MEGF10 | c.190C>A (p.Leu64Ile) c.355C>A (p.Leu119Ile) | |
| 5 | g.127339193C>G | CA360822154 | MEGF10 | c.190C>G (p.Leu64Val) c.355C>G (p.Leu119Val) | |
| 5 | g.127339193C>T | CA446422626 | MEGF10 | c.190C>T (p.Leu64=) c.355C>T (p.Leu119=) | |
| 5 | g.127339194T>A | CA360822155 | MEGF10 | c.191T>A (p.Leu64Gln) c.356T>A (p.Leu119Gln) | |
| 5 | g.127339194T>C | CA360822156 | MEGF10 | c.191T>C (p.Leu64Pro) c.356T>C (p.Leu119Pro) | |
| 5 | g.127339194T>G | CA360822157 | MEGF10 | c.191T>G (p.Leu64Arg) c.356T>G (p.Leu119Arg) | |
| 5 | g.127339195A>C | CA446422632 | MEGF10 | c.192A>C (p.Leu64=) c.357A>C (p.Leu119=) | |
| 5 | g.127339195A>G | CA446422634 | MEGF10 | c.192A>G (p.Leu64=) c.357A>G (p.Leu119=) | |
| 5 | g.127339195A>T | CA446422636 | MEGF10 | c.192A>T (p.Leu64=) c.357A>T (p.Leu119=) | |
| 5 | g.127339196A>C | CA360822158 | MEGF10 | c.193A>C (p.Asn65His) c.358A>C (p.Asn120His) | |
| 5 | g.127339196A>G | CA360822160 | MEGF10 | c.193A>G (p.Asn65Asp) c.358A>G (p.Asn120Asp) | |
| 5 | g.127339196A>T | CA360822159 | MEGF10 | c.193A>T (p.Asn65Tyr) c.358A>T (p.Asn120Tyr) | |
| 5 | g.127339197A>C | CA360822161 | MEGF10 | c.194A>C (p.Asn65Thr) c.359A>C (p.Asn120Thr) | |
| 5 | g.127339197A>G | CA360822162 | MEGF10 | c.194A>G (p.Asn65Ser) c.359A>G (p.Asn120Ser) | |
| 5 | g.127339197A>T | CA360822163 | MEGF10 | c.194A>T (p.Asn65Ile) c.359A>T (p.Asn120Ile) | |
| 5 | g.127339198C>A | CA360822164 | MEGF10 | c.195C>A (p.Asn65Lys) c.360C>A (p.Asn120Lys) | |
| 5 | g.127339198C>G | CA360822165 | MEGF10 | c.195C>G (p.Asn65Lys) c.360C>G (p.Asn120Lys) | ClinVar |
| 5 | g.127339198C>T | CA446422648 | MEGF10 | c.195C>T (p.Asn65=) c.360C>T (p.Asn120=) | |
| 5 | g.127339199T>A | CA360822166 | MEGF10 | c.196T>A (p.Trp66Arg) c.361T>A (p.Trp121Arg) | |
| 5 | g.127339199T>C | CA360822405 | MEGF10 | c.196T>C (p.Trp66Arg) c.361T>C (p.Trp121Arg) | COSMIC |
| 5 | g.127339199T>G | CA360822406 | MEGF10 | c.196T>G (p.Trp66Gly) c.361T>G (p.Trp121Gly) | |
| 5 | g.127339200G>A | CA360822407 | MEGF10 | c.197G>A (p.Trp66Ter) c.362G>A (p.Trp121Ter) | |
| 5 | g.127339200G>C | CA360822408 | MEGF10 | c.197G>C (p.Trp66Ser) c.362G>C (p.Trp121Ser) | |
| 5 | g.127339200G= | CA1580813926 | MEGF10 | c.197G= (p.Trp66=) c.362G= (p.Trp121=) | |
| 5 | g.127339200G>T | CA360822409 | MEGF10 | c.197G>T (p.Trp66Leu) c.362G>T (p.Trp121Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.127339200_127339201delinsGG | CA1580813927 | MEGF10 | c.197_198delinsGG (p.Trp66=) c.362_363delinsGG (p.Trp121=) | |
| 5 | g.127339201del | CA2675086710 | MEGF10 | c.198del (p.Trp66CysfsTer?) c.363del (p.Trp121CysfsTer?) | gnomAD v4 |
| 5 | g.127339201G>A | CA360822410 | MEGF10 | c.198G>A (p.Trp66Ter) c.363G>A (p.Trp121Ter) | |
| 5 | g.127339201G>C | CA360822412 | MEGF10 | c.198G>C (p.Trp66Cys) c.363G>C (p.Trp121Cys) | |
| 5 | g.127339201G>T | CA360822411 | MEGF10 | c.198G>T (p.Trp66Cys) c.363G>T (p.Trp121Cys) | |
| 5 | g.127339201delinsACATTC | CA915942544 | MEGF10 | c.198delinsACATTC (p.Trp66Ter) c.363delinsACATTC (p.Trp121Ter) | ClinVar dbSNP |
| 5 | g.127339202T>A | CA360822413 | MEGF10 | c.199T>A (p.Phe67Ile) c.364T>A (p.Phe122Ile) | |
| 5 | g.127339202T>C | CA360822415 | MEGF10 | c.199T>C (p.Phe67Leu) c.364T>C (p.Phe122Leu) | dbSNP |
| 5 | g.127339202T>G | CA360822414 | MEGF10 | c.199T>G (p.Phe67Val) c.364T>G (p.Phe122Val) | |
| 5 | g.127339202T= | CA1580813928 | MEGF10 | c.199T= (p.Phe67=) c.364T= (p.Phe122=) | |
| 5 | g.127339203T>A | CA360822416 | MEGF10 | c.200T>A (p.Phe67Tyr) c.365T>A (p.Phe122Tyr) | |
| 5 | g.127339203T>C | CA360822417 | MEGF10 | c.200T>C (p.Phe67Ser) c.365T>C (p.Phe122Ser) | |
| 5 | g.127339203T>G | CA360822418 | MEGF10 | c.200T>G (p.Phe67Cys) c.365T>G (p.Phe122Cys) | |
| 5 | g.127339204T>A | CA360822419 | MEGF10 | c.201T>A (p.Phe67Leu) c.366T>A (p.Phe122Leu) | |
| 5 | g.127339204T>C | CA446422664 | MEGF10 | c.201T>C (p.Phe67=) c.366T>C (p.Phe122=) | |
| 5 | g.127339204T>G | CA360822420 | MEGF10 | c.201T>G (p.Phe67Leu) c.366T>G (p.Phe122Leu) | |
| 5 | g.127339205A>C | CA360822421 | MEGF10 | c.202A>C (p.Lys68Gln) c.367A>C (p.Lys123Gln) | |
| 5 | g.127339205A>G | CA360822422 | MEGF10 | c.202A>G (p.Lys68Glu) c.367A>G (p.Lys123Glu) | |
| 5 | g.127339205A>T | CA360822423 | MEGF10 | c.202A>T (p.Lys68Ter) c.367A>T (p.Lys123Ter) | |
| 5 | g.127339206A= | CA1580813929 | MEGF10 | c.203A= (p.Lys68=) c.368A= (p.Lys123=) | |
| 5 | g.127339206A>C | CA360822424 | MEGF10 | c.203A>C (p.Lys68Thr) c.368A>C (p.Lys123Thr) | |
| 5 | g.127339206A>G | CA360822425 | MEGF10 | c.203A>G (p.Lys68Arg) c.368A>G (p.Lys123Arg) | dbSNP gnomAD v4 |
| 5 | g.127339206A>T | CA360822426 | MEGF10 | c.203A>T (p.Lys68Ile) c.368A>T (p.Lys123Ile) | |
| 5 | g.127339207A>C | CA360822428 | MEGF10 | c.204A>C (p.Lys68Asn) c.369A>C (p.Lys123Asn) | |
| 5 | g.127339207A>G | CA446422674 | MEGF10 | c.204A>G (p.Lys68=) c.369A>G (p.Lys123=) | gnomAD v4 |
| 5 | g.127339207A>T | CA360822427 | MEGF10 | c.204A>T (p.Lys68Asn) c.369A>T (p.Lys123Asn) | |
| 5 | g.127339208T>A | CA360822429 | MEGF10 | c.205T>A (p.Cys69Ser) c.370T>A (p.Cys124Ser) | |
| 5 | g.127339208T>C | CA360822430 | MEGF10 | c.205T>C (p.Cys69Arg) c.370T>C (p.Cys124Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.127339208T>G | CA360822431 | MEGF10 | c.205T>G (p.Cys69Gly) c.370T>G (p.Cys124Gly) | gnomAD v4 |
| 5 | g.127339208T= | CA1580813930 | MEGF10 | c.205T= (p.Cys69=) c.370T= (p.Cys124=) | |
| 5 | g.127339209G>A | CA360822432 | MEGF10 | c.206G>A (p.Cys69Tyr) c.371G>A (p.Cys124Tyr) | |
| 5 | g.127339209G>C | CA360822433 | MEGF10 | c.206G>C (p.Cys69Ser) c.371G>C (p.Cys124Ser) | |
| 5 | g.127339209G>T | CA360822434 | MEGF10 | c.206G>T (p.Cys69Phe) c.371G>T (p.Cys124Phe) | gnomAD v4 |
| 5 | g.127339210C>A | CA360822435 | MEGF10 | c.207C>A (p.Cys69Ter) c.372C>A (p.Cys124Ter) | |
| 5 | g.127339210C>G | CA360822436 | MEGF10 | c.207C>G (p.Cys69Trp) c.372C>G (p.Cys124Trp) | |
| 5 | g.127339210C>T | CA446422689 | MEGF10 | c.207C>T (p.Cys69=) c.372C>T (p.Cys124=) | |
| 5 | g.127339211A>C | CA360822437 | MEGF10 | c.208A>C (p.Thr70Pro) c.373A>C (p.Thr125Pro) | |
| 5 | g.127339211A>G | CA360822438 | MEGF10 | c.208A>G (p.Thr70Ala) c.373A>G (p.Thr125Ala) | gnomAD v4 |
| 5 | g.127339211A>T | CA360822439 | MEGF10 | c.208A>T (p.Thr70Ser) c.373A>T (p.Thr125Ser) | |
| 5 | g.127339212C>A | CA360822440 | MEGF10 | c.209C>A (p.Thr70Lys) c.374C>A (p.Thr125Lys) | gnomAD v4 |
| 5 | g.127339212C= | CA1580813931 | MEGF10 | c.209C= (p.Thr70=) c.374C= (p.Thr125=) | |
| 5 | g.127339212C>G | CA360822441 | MEGF10 | c.209C>G (p.Thr70Arg) c.374C>G (p.Thr125Arg) | |
| 5 | g.127339212C>T | CA3391192 | MEGF10 | c.209C>T (p.Thr70Met) c.374C>T (p.Thr125Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.127339213G>A | CA3391193 | MEGF10 | c.210G>A (p.Thr70=) c.375G>A (p.Thr125=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.127339213G>C | CA446422697 | MEGF10 | c.210G>C (p.Thr70=) c.375G>C (p.Thr125=) | |
| 5 | g.127339213G= | CA1580813932 | MEGF10 | c.210G= (p.Thr70=) c.375G= (p.Thr125=) | |
| 5 | g.127339213G>T | CA446422695 | MEGF10 | c.210G>T (p.Thr70=) c.375G>T (p.Thr125=) | COSMIC |
| 5 | g.127339214C>A | CA446422701 | MEGF10 | c.211C>A (p.Arg71=) c.376C>A (p.Arg126=) | gnomAD v4 |
| 5 | g.127339214C= | CA1580813933 | MEGF10 | c.211C= (p.Arg71=) c.376C= (p.Arg126=) | |
| 5 | g.127339214C>G | CA360822442 | MEGF10 | c.211C>G (p.Arg71Gly) c.376C>G (p.Arg126Gly) | |
| 5 | g.127339214C>T | CA129576 | MEGF10 | c.211C>T (p.Arg71Trp) c.376C>T (p.Arg126Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.127339215G>A | CA10618915 | MEGF10 | c.212G>A (p.Arg71Gln) c.377G>A (p.Arg126Gln) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.127339215G>C | CA360822443 | MEGF10 | c.212G>C (p.Arg71Pro) c.377G>C (p.Arg126Pro) | |
| 5 | g.127339215G= | CA1580813934 | MEGF10 | c.212G= (p.Arg71=) c.377G= (p.Arg126=) | |
| 5 | g.127339215G>T | CA360822444 | MEGF10 | c.212G>T (p.Arg71Leu) c.377G>T (p.Arg126Leu) | |
| 5 | g.127339216G>A | CA3391194 | MEGF10 | c.213G>A (p.Arg71=) c.378G>A (p.Arg126=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.127339216G>C | CA446422716 | MEGF10 | c.213G>C (p.Arg71=) c.378G>C (p.Arg126=) | |
| 5 | g.127339216G= | CA1580813935 | MEGF10 | c.213G= (p.Arg71=) c.378G= (p.Arg126=) | |
| 5 | g.127339216G>T | CA446422718 | MEGF10 | c.213G>T (p.Arg71=) c.378G>T (p.Arg126=) | |
| 5 | g.127339217C>A | CA360822445 | MEGF10 | c.214C>A (p.His72Asn) c.379C>A (p.His127Asn) | |
| 5 | g.127339217C>G | CA360822446 | MEGF10 | c.214C>G (p.His72Asp) c.379C>G (p.His127Asp) | |
| 5 | g.127339217C>T | CA360822447 | MEGF10 | c.214C>T (p.His72Tyr) c.379C>T (p.His127Tyr) | |
| 5 | g.127339218A>C | CA360822448 | MEGF10 | c.215A>C (p.His72Pro) c.380A>C (p.His127Pro) | |
| 5 | g.127339218A>G | CA360822449 | MEGF10 | c.215A>G (p.His72Arg) c.380A>G (p.His127Arg) | |
| 5 | g.127339218A>T | CA360822450 | MEGF10 | c.215A>T (p.His72Leu) c.380A>T (p.His127Leu) | |
| 5 | g.127339219C>A | CA360822452 | MEGF10 | c.216C>A (p.His72Gln) c.381C>A (p.His127Gln) | gnomAD v4 |
| 5 | g.127339219C= | CA1580813936 | MEGF10 | c.216C= (p.His72=) c.381C= (p.His127=) | |
| 5 | g.127339219C>G | CA360822451 | MEGF10 | c.216C>G (p.His72Gln) c.381C>G (p.His127Gln) | |
| 5 | g.127339219C>T | CA446422724 | MEGF10 | c.216C>T (p.His72=) c.381C>T (p.His127=) | |
| 5 | g.127339220A>C | CA446422727 | MEGF10 | c.217A>C (p.Arg73=) c.382A>C (p.Arg128=) | |
| 5 | g.127339220A>G | CA360822453 | MEGF10 | c.217A>G (p.Arg73Gly) c.382A>G (p.Arg128Gly) | gnomAD v4 |
| 5 | g.127339220A>T | CA360822454 | MEGF10 | c.217A>T (p.Arg73Ter) c.382A>T (p.Arg128Ter) | |
| 5 | g.127339220dup | CA16618104 | MEGF10 | c.217dup (p.Arg73LysfsTer17) c.382dup (p.Arg128LysfsTer17) | ClinVar dbSNP gnomAD v4 |
| 5 | g.127339221G>A | CA360822455 | MEGF10 | c.218G>A (p.Arg73Lys) c.383G>A (p.Arg128Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.127339221G>C | CA360822456 | MEGF10 | c.218G>C (p.Arg73Thr) c.383G>C (p.Arg128Thr) | |
| 5 | g.127339221G= | CA1580813937 | MEGF10 | c.218G= (p.Arg73=) c.383G= (p.Arg128=) | |
| 5 | g.127339221G>T | CA360822457 | MEGF10 | c.218G>T (p.Arg73Ile) c.383G>T (p.Arg128Ile) | |
| 5 | g.127339222G>A | CA360822458 | MEGF10 | c.218+1G>A (n.218+1G>A) c.383+1G>A (n.383+1G>A) | |
| 5 | g.127339222G>C | CA360822459 | MEGF10 | c.218+1G>C (n.218+1G>C) c.383+1G>C (n.383+1G>C) | |
| 5 | g.127339222G>T | CA360822460 | MEGF10 | c.218+1G>T (n.218+1G>T) c.383+1G>T (n.383+1G>T) | |
| 5 | g.127339223T>A | CA360822461 | MEGF10 | c.218+2T>A (n.218+2T>A) c.383+2T>A (n.383+2T>A) | gnomAD v4 |
| 5 | g.127339223T>C | CA360822462 | MEGF10 | c.218+2T>C (n.218+2T>C) c.383+2T>C (n.383+2T>C) | |
| 5 | g.127339223T>G | CA360822463 | MEGF10 | c.218+2T>G (n.218+2T>G) c.383+2T>G (n.383+2T>G) | |
| 5 | g.127339225A= | CA1580813938 | MEGF10 | c.218+4A= (n.218+4A=) c.383+4A= (n.383+4A=) | |
| 5 | g.127339225A>G | CA562866129 | MEGF10 | c.218+4A>G (n.218+4A>G) c.383+4A>G (n.383+4A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.127339226T>C | CA3391195 | MEGF10 | c.218+5T>C (n.218+5T>C) c.383+5T>C (n.383+5T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.127339226T= | CA1580813939 | MEGF10 | c.218+5T= (n.218+5T=) c.383+5T= (n.383+5T=) | |
| 5 | g.127339229A= | CA1580813940 | MEGF10 | c.218+8A= (n.218+8A=) c.383+8A= (n.383+8A=) | |
| 5 | g.127339229A>C | CA803539604 | MEGF10 | c.218+8A>C (n.218+8A>C) c.383+8A>C (n.383+8A>C) | ClinVar dbSNP |
| 5 | g.127339231G>A | CA1580813942 | MEGF10 | c.218+10G>A (n.218+10G>A) c.383+10G>A (n.383+10G>A) | dbSNP gnomAD v4 |
| 5 | g.127339231G= | CA1580813941 | MEGF10 | c.218+10G= (n.218+10G=) c.383+10G= (n.383+10G=) | |
| 5 | g.127339232C>A | CA2675086711 | MEGF10 | c.218+11C>A (n.218+11C>A) c.383+11C>A (n.383+11C>A) | gnomAD v4 |
| 5 | g.127339232C>T | CA2580072526 | MEGF10 | c.218+11C>T (n.218+11C>T) c.383+11C>T (n.383+11C>T) | ClinVar gnomAD v4 |
| 5 | g.127339235A>C | CA2578393730 | MEGF10 | c.218+14A>C (n.218+14A>C) c.383+14A>C (n.383+14A>C) | gnomAD v4 |
| 5 | g.127339235A>G | CA2675086712 | MEGF10 | c.218+14A>G (n.218+14A>G) c.383+14A>G (n.383+14A>G) | gnomAD v4 |
| 5 | g.127339236G>C | CA650265868 | MEGF10 | c.218+15G>C (n.218+15G>C) c.383+15G>C (n.383+15G>C) | gnomAD v4 COSMIC COSMIC |
| 5 | g.127339237G>A | CA2675086713 | MEGF10 | c.218+16G>A (n.218+16G>A) c.383+16G>A (n.383+16G>A) | ClinVar gnomAD v4 |
| 5 | g.127339237G>T | CA2675086714 | MEGF10 | c.218+16G>T (n.218+16G>T) c.383+16G>T (n.383+16G>T) | dbSNP gnomAD v4 |
| 5 | g.127339238C>A | CA2675086715 | MEGF10 | c.218+17C>A (n.218+17C>A) c.383+17C>A (n.383+17C>A) | gnomAD v4 |
| 5 | g.127339238C= | CA1580813943 | MEGF10 | c.218+17C= (n.218+17C=) c.383+17C= (n.383+17C=) | |
| 5 | g.127339238C>G | CA3391196 | MEGF10 | c.218+17C>G (n.218+17C>G) c.383+17C>G (n.383+17C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.127339239_127339241delinsATG | CA1580813944 | MEGF10 | c.218+18_218+20delinsATG (n.218+18_218+20delinsATG) c.383+18_383+20delinsATG (n.383+18_383+20delinsATG) | |
| 5 | g.127339240T>A | CA2675086716 | MEGF10 | c.218+19T>A (n.218+19T>A) c.383+19T>A (n.383+19T>A) | gnomAD v4 |
| 5 | g.127339241_127339242del | CA562866130 | MEGF10 | c.218+20_218+21del (n.218+20_218+21del) c.383+20_383+21del (n.383+20_383+21del) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.127339241G>A | CA127484496 | MEGF10 | c.218+20G>A (n.218+20G>A) c.383+20G>A (n.383+20G>A) | dbSNP |
| 5 | g.127339241G>C | CA1580813946 | MEGF10 | c.218+20G>C (n.218+20G>C) c.383+20G>C (n.383+20G>C) | dbSNP gnomAD v4 |
| 5 | g.127339241G= | CA1580813945 | MEGF10 | c.218+20G= (n.218+20G=) c.383+20G= (n.383+20G=) | |
| 5 | g.127339242T>C | CA562866131 | MEGF10 | c.218+21T>C (n.218+21T>C) c.383+21T>C (n.383+21T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.127339242T= | CA1580813947 | MEGF10 | c.218+21T= (n.218+21T=) c.383+21T= (n.383+21T=) | |
| 5 | g.127339243T>C | CA2675086717 | MEGF10 | c.218+22T>C (n.218+22T>C) c.383+22T>C (n.383+22T>C) | gnomAD v4 |
| 5 | g.127339248A= | CA1580813948 | MEGF10 | c.218+27A= (n.218+27A=) c.383+27A= (n.383+27A=) | |
| 5 | g.127339248A>C | CA3391197 | MEGF10 | c.218+27A>C (n.218+27A>C) c.383+27A>C (n.383+27A>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.127339249G>A | CA1081308039 | MEGF10 | c.218+28G>A (n.218+28G>A) c.383+28G>A (n.383+28G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.127339249G= | CA1580813949 | MEGF10 | c.218+28G= (n.218+28G=) c.383+28G= (n.383+28G=) | |
| 5 | g.127339249G>T | CA2558866456 | MEGF10 | c.218+28G>T (n.218+28G>T) c.383+28G>T (n.383+28G>T) | |
| 5 | g.127339250T>C | CA2578393731 | MEGF10 | c.218+29T>C (n.218+29T>C) c.383+29T>C (n.383+29T>C) | gnomAD v4 |
| 5 | g.127339253G>T | CA2675086718 | MEGF10 | c.218+32G>T (n.218+32G>T) c.383+32G>T (n.383+32G>T) | gnomAD v4 |
| 5 | g.127339254G>A | CA803539642 | MEGF10 | c.218+33G>A (n.218+33G>A) c.383+33G>A (n.383+33G>A) | dbSNP gnomAD v4 |
| 5 | g.127339254G= | CA1580813950 | MEGF10 | c.218+33G= (n.218+33G=) c.383+33G= (n.383+33G=) | |
| 5 | g.127339254G>T | CA562866132 | MEGF10 | c.218+33G>T (n.218+33G>T) c.383+33G>T (n.383+33G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.127339255C>A | CA2578393732 | MEGF10 | c.218+34C>A (n.218+34C>A) c.383+34C>A (n.383+34C>A) | gnomAD v4 |
| 5 | g.127339256T>C | CA3391198 | MEGF10 | c.218+35T>C (n.218+35T>C) c.383+35T>C (n.383+35T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.127339256T= | CA1580813951 | MEGF10 | c.218+35T= (n.218+35T=) c.383+35T= (n.383+35T=) | |
| 5 | g.127339258A= | CA1580813952 | MEGF10 | c.218+37A= (n.218+37A=) c.383+37A= (n.383+37A=) | |
| 5 | g.127339258A>C | CA1580813953 | MEGF10 | c.218+37A>C (n.218+37A>C) c.383+37A>C (n.383+37A>C) | dbSNP |
| 5 | g.127339259C>A | CA2675086719 | MEGF10 | c.218+38C>A (n.218+38C>A) c.383+38C>A (n.383+38C>A) | gnomAD v4 |
| 5 | g.127339259C>G | CA2578393733 | MEGF10 | c.218+38C>G (n.218+38C>G) c.383+38C>G (n.383+38C>G) | |
| 5 | g.127339261G>A | CA2675086720 | MEGF10 | c.218+40G>A (n.218+40G>A) c.383+40G>A (n.383+40G>A) | gnomAD v4 |
| 5 | g.127339263del | CA2768313023 | MEGF10 | c.218+42del (n.218+42del) c.383+42del (n.383+42del) | |
| 5 | g.127339262G>A | CA2675086721 | MEGF10 | c.218+41G>A (n.218+41G>A) c.383+41G>A (n.383+41G>A) | gnomAD v4 |
| 5 | g.127339263G>A | CA3391199 | MEGF10 | c.218+42G>A (n.218+42G>A) c.383+42G>A (n.383+42G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.127339263G= | CA1580813954 | MEGF10 | c.218+42G= (n.218+42G=) c.383+42G= (n.383+42G=) | |
| 5 | g.127339263G>T | CA1081308043 | MEGF10 | c.218+42G>T (n.218+42G>T) c.383+42G>T (n.383+42G>T) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.127339265A>G | CA2675086722 | MEGF10 | c.218+44A>G (n.218+44A>G) c.383+44A>G (n.383+44A>G) | gnomAD v4 |
| 5 | g.127339266T>C | CA1580813956 | MEGF10 | c.218+45T>C (n.218+45T>C) c.383+45T>C (n.383+45T>C) | dbSNP gnomAD v4 |
| 5 | g.127339266T= | CA1580813955 | MEGF10 | c.218+45T= (n.218+45T=) c.383+45T= (n.383+45T=) | |
| 5 | g.127339268G>A | CA2675086723 | MEGF10 | c.218+47G>A (n.218+47G>A) c.383+47G>A (n.383+47G>A) | gnomAD v4 |
| 5 | g.127339268G>C | CA562866133 | MEGF10 | c.218+47G>C (n.218+47G>C) c.383+47G>C (n.383+47G>C) | dbSNP gnomAD v2 |
| 5 | g.127339268G= | CA1580813957 | MEGF10 | c.218+47G= (n.218+47G=) c.383+47G= (n.383+47G=) | |
| 5 | g.127339269A>G | CA2675086724 | MEGF10 | c.218+48A>G (n.218+48A>G) c.383+48A>G (n.383+48A>G) | gnomAD v4 |
| 5 | g.127339271T>A | CA2675086725 | MEGF10 | c.218+50T>A (n.218+50T>A) c.383+50T>A (n.383+50T>A) | gnomAD v4 |
| 5 | g.127339272C>A | CA1580813960 | MEGF10 | c.218+51C>A (n.218+51C>A) c.383+51C>A (n.383+51C>A) | dbSNP gnomAD v4 |
| 5 | g.127339272C= | CA1580813958 | MEGF10 | c.218+51C= (n.218+51C=) c.383+51C= (n.383+51C=) | |
| 5 | g.127339272C>T | CA1580813959 | MEGF10 | c.218+51C>T (n.218+51C>T) c.383+51C>T (n.383+51C>T) | dbSNP gnomAD v4 |
| 5 | g.127339274A= | CA1580813961 | MEGF10 | c.218+53A= (n.218+53A=) c.383+53A= (n.383+53A=) | |
| 5 | g.127339274A>G | CA1081308059 | MEGF10 | c.218+53A>G (n.218+53A>G) c.383+53A>G (n.383+53A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.127339275A>G | CA2675086726 | MEGF10 | c.218+54A>G (n.218+54A>G) c.383+54A>G (n.383+54A>G) | gnomAD v4 |
| 5 | g.127339275A>T | CA2675086727 | MEGF10 | c.218+54A>T (n.218+54A>T) c.383+54A>T (n.383+54A>T) | gnomAD v4 |