Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.61032027G>A | CA346944494 | PEX13 | c.701G>A (p.Trp234Ter) c.584G>A (p.Trp195Ter) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.61032027G>C | CA346944500 | PEX13 | c.701G>C (p.Trp234Ser) c.584G>C (p.Trp195Ser) | |
2 | g.61032027G= | CA1255168220 | PEX13 | c.701G= (p.Trp234=) c.584G= (p.Trp195=) | |
2 | g.61032027G>T | CA346944502 | PEX13 | c.701G>T (p.Trp234Leu) c.584G>T (p.Trp195Leu) | |
2 | g.61032028G>A | CA119009 | PEX13 | c.702G>A (p.Trp234Ter) c.585G>A (p.Trp195Ter) | ClinVar dbSNP |
2 | g.61032028G>C | CA346944505 | PEX13 | c.702G>C (p.Trp234Cys) c.585G>C (p.Trp195Cys) | |
2 | g.61032028G= | CA1255168221 | PEX13 | c.702G= (p.Trp234=) c.585G= (p.Trp195=) | |
2 | g.61032028G>T | CA346944508 | PEX13 | c.702G>T (p.Trp234Cys) c.585G>T (p.Trp195Cys) | |
2 | g.61032029C>A | CA346944510 | PEX13 | c.703C>A (p.Pro235Thr) c.586C>A (p.Pro196Thr) | |
2 | g.61032029C>G | CA346944511 | PEX13 | c.703C>G (p.Pro235Ala) c.586C>G (p.Pro196Ala) | |
2 | g.61032029C>T | CA346944509 | PEX13 | c.703C>T (p.Pro235Ser) c.586C>T (p.Pro196Ser) | |
2 | g.61032030C>A | CA346944512 | PEX13 | c.704C>A (p.Pro235Gln) c.587C>A (p.Pro196Gln) | |
2 | g.61032030C>G | CA346944513 | PEX13 | c.704C>G (p.Pro235Arg) c.587C>G (p.Pro196Arg) | |
2 | g.61032030C>T | CA346944514 | PEX13 | c.704C>T (p.Pro235Leu) c.587C>T (p.Pro196Leu) | |
2 | g.61032031A= | CA1255168222 | PEX13 | c.705A= (p.Pro235=) c.588A= (p.Pro196=) | |
2 | g.61032031A>C | CA426411829 | PEX13 | c.705A>C (p.Pro235=) c.588A>C (p.Pro196=) | |
2 | g.61032031A>G | CA48342593 | PEX13 | c.705A>G (p.Pro235=) c.588A>G (p.Pro196=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.61032031A>T | CA426411832 | PEX13 | c.705A>T (p.Pro235=) c.588A>T (p.Pro196=) | ClinVar |
2 | g.61032032A= | CA1255168223 | PEX13 | c.706A= (p.Ile236=) c.589A= (p.Ile197=) | |
2 | g.61032032A>C | CA346944518 | PEX13 | c.706A>C (p.Ile236Leu) c.589A>C (p.Ile197Leu) | |
2 | g.61032032A>G | CA346944522 | PEX13 | c.706A>G (p.Ile236Val) c.589A>G (p.Ile197Val) | ClinVar dbSNP gnomAD v4 |
2 | g.61032032A>T | CA346944524 | PEX13 | c.706A>T (p.Ile236Leu) c.589A>T (p.Ile197Leu) | |
2 | g.61032033T>A | CA346944534 | PEX13 | c.707T>A (p.Ile236Lys) c.590T>A (p.Ile197Lys) | |
2 | g.61032033T>C | CA346944539 | PEX13 | c.707T>C (p.Ile236Thr) c.590T>C (p.Ile197Thr) | |
2 | g.61032033T>G | CA346944536 | PEX13 | c.707T>G (p.Ile236Arg) c.590T>G (p.Ile197Arg) | |
2 | g.61032034A>C | CA426411837 | PEX13 | c.708A>C (p.Ile236=) c.591A>C (p.Ile197=) | |
2 | g.61032034A>G | CA346944540 | PEX13 | c.708A>G (p.Ile236Met) c.591A>G (p.Ile197Met) | gnomAD v4 |
2 | g.61032034A>T | CA426411834 | PEX13 | c.708A>T (p.Ile236=) c.591A>T (p.Ile197=) | |
2 | g.61032035T>A | CA346944542 | PEX13 | c.709T>A (p.Phe237Ile) c.592T>A (p.Phe198Ile) | |
2 | g.61032035T>C | CA346944543 | PEX13 | c.709T>C (p.Phe237Leu) c.592T>C (p.Phe198Leu) | |
2 | g.61032035T>G | CA346944545 | PEX13 | c.709T>G (p.Phe237Val) c.592T>G (p.Phe198Val) | |
2 | g.61032036T>A | CA346944548 | PEX13 | c.710T>A (p.Phe237Tyr) c.593T>A (p.Phe198Tyr) | |
2 | g.61032036T>C | CA346944550 | PEX13 | c.710T>C (p.Phe237Ser) c.593T>C (p.Phe198Ser) | gnomAD v4 |
2 | g.61032036T>G | CA346944549 | PEX13 | c.710T>G (p.Phe237Cys) c.593T>G (p.Phe198Cys) | |
2 | g.61032037C>A | CA346944551 | PEX13 | c.711C>A (p.Phe237Leu) c.594C>A (p.Phe198Leu) | |
2 | g.61032037C= | CA1255168224 | PEX13 | c.711C= (p.Phe237=) c.594C= (p.Phe198=) | |
2 | g.61032037C>G | CA346944554 | PEX13 | c.711C>G (p.Phe237Leu) c.594C>G (p.Phe198Leu) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.61032037C>T | CA426411839 | PEX13 | c.711C>T (p.Phe237=) c.594C>T (p.Phe198=) | |
2 | g.61032038T>A | CA346944560 | PEX13 | c.712T>A (p.Leu238Met) c.595T>A (p.Leu199Met) | |
2 | g.61032038T>C | CA426411843 | PEX13 | c.712T>C (p.Leu238=) c.595T>C (p.Leu199=) | |
2 | g.61032038T>G | CA346944562 | PEX13 | c.712T>G (p.Leu238Val) c.595T>G (p.Leu199Val) | ClinVar dbSNP gnomAD v4 |
2 | g.61032038T= | CA1255168225 | PEX13 | c.712T= (p.Leu238=) c.595T= (p.Leu199=) | |
2 | g.61032039T>A | CA346944567 | PEX13 | c.713T>A (p.Leu238Ter) c.596T>A (p.Leu199Ter) | |
2 | g.61032039T>C | CA346944572 | PEX13 | c.713T>C (p.Leu238Ser) c.596T>C (p.Leu199Ser) | |
2 | g.61032039T>G | CA346944570 | PEX13 | c.713T>G (p.Leu238Trp) c.596T>G (p.Leu199Trp) | |
2 | g.61032040G>A | CA426411844 | PEX13 | c.714G>A (p.Leu238=) c.597G>A (p.Leu199=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.61032040G>C | CA346944577 | PEX13 | c.714G>C (p.Leu238Phe) c.597G>C (p.Leu199Phe) | |
2 | g.61032040G= | CA1255168226 | PEX13 | c.714G= (p.Leu238=) c.597G= (p.Leu199=) | |
2 | g.61032040G>T | CA346944578 | PEX13 | c.714G>T (p.Leu238Phe) c.597G>T (p.Leu199Phe) | gnomAD v4 |
2 | g.61032041T>A | CA346944581 | PEX13 | c.715T>A (p.Phe239Ile) c.598T>A (p.Phe200Ile) | |
2 | g.61032041T>C | CA346944582 | PEX13 | c.715T>C (p.Phe239Leu) c.598T>C (p.Phe200Leu) | |
2 | g.61032041T>G | CA346944584 | PEX13 | c.715T>G (p.Phe239Val) c.598T>G (p.Phe200Val) | |
2 | g.61032042T>A | CA346944594 | PEX13 | c.716T>A (p.Phe239Tyr) c.599T>A (p.Phe200Tyr) | |
2 | g.61032042T>C | CA1673337 | PEX13 | c.716T>C (p.Phe239Ser) c.599T>C (p.Phe200Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.61032042T>G | CA346944597 | PEX13 | c.716T>G (p.Phe239Cys) c.599T>G (p.Phe200Cys) | |
2 | g.61032042T= | CA1255168227 | PEX13 | c.716T= (p.Phe239=) c.599T= (p.Phe200=) | |
2 | g.61032043C>A | CA346944599 | PEX13 | c.717C>A (p.Phe239Leu) c.600C>A (p.Phe200Leu) | |
2 | g.61032043C>G | CA346944600 | PEX13 | c.717C>G (p.Phe239Leu) c.600C>G (p.Phe200Leu) | gnomAD v4 |
2 | g.61032043C>T | CA426411846 | PEX13 | c.717C>T (p.Phe239=) c.600C>T (p.Phe200=) | |
2 | g.61032044T>A | CA346944602 | PEX13 | c.718T>A (p.Phe240Ile) c.601T>A (p.Phe201Ile) | |
2 | g.61032044T>C | CA346944604 | PEX13 | c.718T>C (p.Phe240Leu) c.601T>C (p.Phe201Leu) | |
2 | g.61032044T>G | CA346944606 | PEX13 | c.718T>G (p.Phe240Val) c.601T>G (p.Phe201Val) | |
2 | g.61032045T>A | CA346944607 | PEX13 | c.719T>A (p.Phe240Tyr) c.602T>A (p.Phe201Tyr) | |
2 | g.61032045T>C | CA346944608 | PEX13 | c.719T>C (p.Phe240Ser) c.602T>C (p.Phe201Ser) | |
2 | g.61032045T>G | CA346944609 | PEX13 | c.719T>G (p.Phe240Cys) c.602T>G (p.Phe201Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.61032045T= | CA1255168228 | PEX13 | c.719T= (p.Phe240=) c.602T= (p.Phe201=) | |
2 | g.61032046T>A | CA346944610 | PEX13 | c.720T>A (p.Phe240Leu) c.603T>A (p.Phe201Leu) | |
2 | g.61032046T>C | CA426411847 | PEX13 | c.720T>C (p.Phe240=) c.603T>C (p.Phe201=) | |
2 | g.61032046T>G | CA346944611 | PEX13 | c.720T>G (p.Phe240Leu) c.603T>G (p.Phe201Leu) | |
2 | g.61032047G>A | CA346944613 | PEX13 | c.721G>A (p.Ala241Thr) c.604G>A (p.Ala202Thr) | |
2 | g.61032047G>C | CA346944616 | PEX13 | c.721G>C (p.Ala241Pro) c.604G>C (p.Ala202Pro) | |
2 | g.61032047G>T | CA346944617 | PEX13 | c.721G>T (p.Ala241Ser) c.604G>T (p.Ala202Ser) | COSMIC |
2 | g.61032048C>A | CA346944618 | PEX13 | c.722C>A (p.Ala241Asp) c.605C>A (p.Ala202Asp) | |
2 | g.61032048C>G | CA346944619 | PEX13 | c.722C>G (p.Ala241Gly) c.605C>G (p.Ala202Gly) | |
2 | g.61032048C>T | CA346944620 | PEX13 | c.722C>T (p.Ala241Val) c.605C>T (p.Ala202Val) | |
2 | g.61032049T>A | CA426411848 | PEX13 | c.723T>A (p.Ala241=) c.606T>A (p.Ala202=) | ClinVar dbSNP |
2 | g.61032049T>C | CA426411849 | PEX13 | c.723T>C (p.Ala241=) c.606T>C (p.Ala202=) | |
2 | g.61032049T>G | CA426411850 | PEX13 | c.723T>G (p.Ala241=) c.606T>G (p.Ala202=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.61032049T= | CA1255168229 | PEX13 | c.723T= (p.Ala241=) c.606T= (p.Ala202=) | |
2 | g.61032050G>A | CA346944623 | PEX13 | c.724G>A (p.Val242Ile) c.607G>A (p.Val203Ile) | |
2 | g.61032050G>C | CA346944624 | PEX13 | c.724G>C (p.Val242Leu) c.607G>C (p.Val203Leu) | |
2 | g.61032050G>T | CA346944625 | PEX13 | c.724G>T (p.Val242Phe) c.607G>T (p.Val203Phe) | |
2 | g.61032051T>A | CA346944629 | PEX13 | c.725T>A (p.Val242Asp) c.608T>A (p.Val203Asp) | |
2 | g.61032051T>C | CA346944632 | PEX13 | c.725T>C (p.Val242Ala) c.608T>C (p.Val203Ala) | |
2 | g.61032051T>G | CA346944634 | PEX13 | c.725T>G (p.Val242Gly) c.608T>G (p.Val203Gly) | |
2 | g.61032052T>A | CA426411851 | PEX13 | c.726T>A (p.Val242=) c.609T>A (p.Val203=) | |
2 | g.61032052T>C | CA426411852 | PEX13 | c.726T>C (p.Val242=) c.609T>C (p.Val203=) | |
2 | g.61032052T>G | CA426411853 | PEX13 | c.726T>G (p.Val242=) c.609T>G (p.Val203=) | |
2 | g.61032053A= | CA1255168230 | PEX13 | c.727A= (p.Ile243=) c.610A= (p.Ile204=) | |
2 | g.61032053A>C | CA346944637 | PEX13 | c.727A>C (p.Ile243Leu) c.610A>C (p.Ile204Leu) | |
2 | g.61032053A>G | CA346944640 | PEX13 | c.727A>G (p.Ile243Val) c.610A>G (p.Ile204Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.61032053A>T | CA346944638 | PEX13 | c.727A>T (p.Ile243Phe) c.610A>T (p.Ile204Phe) | |
2 | g.61032054T>A | CA346944645 | PEX13 | c.728T>A (p.Ile243Asn) c.611T>A (p.Ile204Asn) | |
2 | g.61032054T>C | CA1673338 | PEX13 | c.728T>C (p.Ile243Thr) c.611T>C (p.Ile204Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.61032054T>G | CA346944653 | PEX13 | c.728T>G (p.Ile243Ser) c.611T>G (p.Ile204Ser) | |
2 | g.61032054T= | CA1255168231 | PEX13 | c.728T= (p.Ile243=) c.611T= (p.Ile204=) | |
2 | g.61032055C>A | CA426411856 | PEX13 | c.729C>A (p.Ile243=) c.612C>A (p.Ile204=) | |
2 | g.61032055C>G | CA346944654 | PEX13 | c.729C>G (p.Ile243Met) c.612C>G (p.Ile204Met) | |
2 | g.61032055C>T | CA426411855 | PEX13 | c.729C>T (p.Ile243=) c.612C>T (p.Ile204=) | ClinVar gnomAD v4 |
2 | g.61032056C>A | CA346944656 | PEX13 | c.730C>A (p.Leu244Ile) c.613C>A (p.Leu205Ile) | |
2 | g.61032056C= | CA1255168232 | PEX13 | c.730C= (p.Leu244=) c.613C= (p.Leu205=) | |
2 | g.61032056C>G | CA346944659 | PEX13 | c.730C>G (p.Leu244Val) c.613C>G (p.Leu205Val) | |
2 | g.61032056C>T | CA346944661 | PEX13 | c.730C>T (p.Leu244Phe) c.613C>T (p.Leu205Phe) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.61032057T>A | CA346944663 | PEX13 | c.731T>A (p.Leu244His) c.614T>A (p.Leu205His) | |
2 | g.61032057T>C | CA346944666 | PEX13 | c.731T>C (p.Leu244Pro) c.614T>C (p.Leu205Pro) | gnomAD v4 |
2 | g.61032057T>G | CA346944680 | PEX13 | c.731T>G (p.Leu244Arg) c.614T>G (p.Leu205Arg) | |
2 | g.61032057_61032060delinsTTGG | CA1255168233 | PEX13 | c.731_734delinsTTGG (p.Leu244=) c.614_617delinsTTGG (p.Leu205=) | |
2 | g.61032058T>A | CA426411859 | PEX13 | c.732T>A (p.Leu244=) c.615T>A (p.Leu205=) | |
2 | g.61032058T>C | CA426411861 | PEX13 | c.732T>C (p.Leu244=) c.615T>C (p.Leu205=) | |
2 | g.61032058T>G | CA426411860 | PEX13 | c.732T>G (p.Leu244=) c.615T>G (p.Leu205=) | |
2 | g.61032062_61032064del | CA533180229 | PEX13 | c.736_738del (p.Gly246del) c.619_621del (p.Gly207del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.61032059G>A | CA346944682 | PEX13 | c.733G>A (p.Gly245Ser) c.616G>A (p.Gly206Ser) | |
2 | g.61032059G>C | CA346944683 | PEX13 | c.733G>C (p.Gly245Arg) c.616G>C (p.Gly206Arg) | ClinVar dbSNP |
2 | g.61032059G>T | CA346944684 | PEX13 | c.733G>T (p.Gly245Cys) c.616G>T (p.Gly206Cys) | |
2 | g.61032060G>A | CA346944685 | PEX13 | c.734G>A (p.Gly245Asp) c.617G>A (p.Gly206Asp) | |
2 | g.61032060G>C | CA346944689 | PEX13 | c.734G>C (p.Gly245Ala) c.617G>C (p.Gly206Ala) | |
2 | g.61032060G= | CA1255168234 | PEX13 | c.734G= (p.Gly245=) c.617G= (p.Gly206=) | |
2 | g.61032060G>T | CA346944686 | PEX13 | c.734G>T (p.Gly245Val) c.617G>T (p.Gly206Val) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.61032061T>A | CA426411867 | PEX13 | c.735T>A (p.Gly245=) c.618T>A (p.Gly206=) | ClinVar dbSNP |
2 | g.61032061T>C | CA426411869 | PEX13 | c.735T>C (p.Gly245=) c.618T>C (p.Gly206=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.61032061T>G | CA426411870 | PEX13 | c.735T>G (p.Gly245=) c.618T>G (p.Gly206=) | |
2 | g.61032061T= | CA1255168235 | PEX13 | c.735T= (p.Gly245=) c.618T= (p.Gly206=) | |
2 | g.61032062G>A | CA346944695 | PEX13 | c.736G>A (p.Gly246Ser) c.619G>A (p.Gly207Ser) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.61032062G>C | CA346944697 | PEX13 | c.736G>C (p.Gly246Arg) c.619G>C (p.Gly207Arg) | |
2 | g.61032062G= | CA1255168236 | PEX13 | c.736G= (p.Gly246=) c.619G= (p.Gly207=) | |
2 | g.61032062G>T | CA346944700 | PEX13 | c.736G>T (p.Gly246Cys) c.619G>T (p.Gly207Cys) | |
2 | g.61032063G>A | CA346944702 | PEX13 | c.737G>A (p.Gly246Asp) c.620G>A (p.Gly207Asp) | |
2 | g.61032063G>C | CA346944707 | PEX13 | c.737G>C (p.Gly246Ala) c.620G>C (p.Gly207Ala) | |
2 | g.61032063G>T | CA346944710 | PEX13 | c.737G>T (p.Gly246Val) c.620G>T (p.Gly207Val) | gnomAD v4 |
2 | g.61032064T>A | CA426411872 | PEX13 | c.738T>A (p.Gly246=) c.621T>A (p.Gly207=) | |
2 | g.61032064T>C | CA426411873 | PEX13 | c.738T>C (p.Gly246=) c.621T>C (p.Gly207=) | ClinVar dbSNP gnomAD v4 |
2 | g.61032064T>G | CA426411875 | PEX13 | c.738T>G (p.Gly246=) c.621T>G (p.Gly207=) | |
2 | g.61032064T= | CA1255168238 | PEX13 | c.738T= (p.Gly246=) c.621T= (p.Gly207=) | |
2 | g.61032064_61032069delinsTCCTTA | CA1255168237 | PEX13 | c.738_743delinsTCCTTA (p.Gly246=) c.621_626delinsTCCTTA (p.Gly207=) | |
2 | g.61032065C>A | CA346944711 | PEX13 | c.739C>A (p.Pro247Thr) c.622C>A (p.Pro208Thr) | |
2 | g.61032065C>G | CA346944712 | PEX13 | c.739C>G (p.Pro247Ala) c.622C>G (p.Pro208Ala) | |
2 | g.61032065C>T | CA346944713 | PEX13 | c.739C>T (p.Pro247Ser) c.622C>T (p.Pro208Ser) | gnomAD v4 |
2 | g.61032068_61032072del | CA1673339 | PEX13 | c.742_746del (p.Tyr248HisfsTer10) c.625_629del (p.Tyr209HisfsTer10) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.61032066C>A | CA346944719 | PEX13 | c.740C>A (p.Pro247His) c.623C>A (p.Pro208His) | |
2 | g.61032066C>G | CA346944722 | PEX13 | c.740C>G (p.Pro247Arg) c.623C>G (p.Pro208Arg) | |
2 | g.61032066C>T | CA346944717 | PEX13 | c.740C>T (p.Pro247Leu) c.623C>T (p.Pro208Leu) | gnomAD v4 |
2 | g.61032067T>A | CA426411484 | PEX13 | c.741T>A (p.Pro247=) c.624T>A (p.Pro208=) | |
2 | g.61032067T>C | CA426411485 | PEX13 | c.741T>C (p.Pro247=) c.624T>C (p.Pro208=) | |
2 | g.61032067T>G | CA426411486 | PEX13 | c.741T>G (p.Pro247=) c.624T>G (p.Pro208=) | |
2 | g.61032068T>A | CA346944723 | PEX13 | c.742T>A (p.Tyr248Asn) c.625T>A (p.Tyr209Asn) | |
2 | g.61032068T>C | CA346944724 | PEX13 | c.742T>C (p.Tyr248His) c.625T>C (p.Tyr209His) | |
2 | g.61032068T>G | CA346944728 | PEX13 | c.742T>G (p.Tyr248Asp) c.625T>G (p.Tyr209Asp) | |
2 | g.61032069A>C | CA346944732 | PEX13 | c.743A>C (p.Tyr248Ser) c.626A>C (p.Tyr209Ser) | |
2 | g.61032069A>G | CA346944733 | PEX13 | c.743A>G (p.Tyr248Cys) c.626A>G (p.Tyr209Cys) | |
2 | g.61032069A>T | CA346944734 | PEX13 | c.743A>T (p.Tyr248Phe) c.626A>T (p.Tyr209Phe) | |
2 | g.61032070C>A | CA346944749 | PEX13 | c.744C>A (p.Tyr248Ter) c.627C>A (p.Tyr209Ter) | |
2 | g.61032070C= | CA1255168239 | PEX13 | c.744C= (p.Tyr248=) c.627C= (p.Tyr209=) | |
2 | g.61032070C>G | CA346944752 | PEX13 | c.744C>G (p.Tyr248Ter) c.627C>G (p.Tyr209Ter) | ClinVar |
2 | g.61032070C>T | CA1673340 | PEX13 | c.744C>T (p.Tyr248=) c.627C>T (p.Tyr209=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.61032071C>A | CA346944760 | PEX13 | c.745C>A (p.Leu249Ile) c.628C>A (p.Leu210Ile) | |
2 | g.61032071C>G | CA346944762 | PEX13 | c.745C>G (p.Leu249Val) c.628C>G (p.Leu210Val) | gnomAD v4 |
2 | g.61032071C>T | CA346944771 | PEX13 | c.745C>T (p.Leu249Phe) c.628C>T (p.Leu210Phe) | ClinVar dbSNP |
2 | g.61032072T>A | CA346944780 | PEX13 | c.746T>A (p.Leu249His) c.629T>A (p.Leu210His) | |
2 | g.61032072T>C | CA346944777 | PEX13 | c.746T>C (p.Leu249Pro) c.629T>C (p.Leu210Pro) | |
2 | g.61032072T>G | CA346944774 | PEX13 | c.746T>G (p.Leu249Arg) c.629T>G (p.Leu210Arg) | |
2 | g.61032073C>A | CA426411491 | PEX13 | c.747C>A (p.Leu249=) c.630C>A (p.Leu210=) | |
2 | g.61032073C>G | CA426411492 | PEX13 | c.747C>G (p.Leu249=) c.630C>G (p.Leu210=) | |
2 | g.61032073C>T | CA426411493 | PEX13 | c.747C>T (p.Leu249=) c.630C>T (p.Leu210=) | |
2 | g.61032074A>C | CA346944783 | PEX13 | c.748A>C (p.Ile250Leu) c.631A>C (p.Ile211Leu) | |
2 | g.61032074A>G | CA346944786 | PEX13 | c.748A>G (p.Ile250Val) c.631A>G (p.Ile211Val) | |
2 | g.61032074A>T | CA346944788 | PEX13 | c.748A>T (p.Ile250Phe) c.631A>T (p.Ile211Phe) | |
2 | g.61032075T>A | CA346944801 | PEX13 | c.749T>A (p.Ile250Asn) c.632T>A (p.Ile211Asn) | |
2 | g.61032075T>C | CA346944802 | PEX13 | c.749T>C (p.Ile250Thr) c.632T>C (p.Ile211Thr) | |
2 | g.61032075T>G | CA346944803 | PEX13 | c.749T>G (p.Ile250Ser) c.632T>G (p.Ile211Ser) | |
2 | g.61032076T>A | CA426411494 | PEX13 | c.750T>A (p.Ile250=) c.633T>A (p.Ile211=) | |
2 | g.61032076T>C | CA1673341 | PEX13 | c.750T>C (p.Ile250=) c.633T>C (p.Ile211=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.61032076T>G | CA346944804 | PEX13 | c.750T>G (p.Ile250Met) c.633T>G (p.Ile211Met) | dbSNP |
2 | g.61032076T= | CA1255168240 | PEX13 | c.750T= (p.Ile250=) c.633T= (p.Ile211=) | |
2 | g.61032077T>A | CA346944811 | PEX13 | c.751T>A (p.Trp251Arg) c.634T>A (p.Trp212Arg) | gnomAD v4 |
2 | g.61032077T>C | CA346944813 | PEX13 | c.751T>C (p.Trp251Arg) c.634T>C (p.Trp212Arg) | |
2 | g.61032077T>G | CA346944818 | PEX13 | c.751T>G (p.Trp251Gly) c.634T>G (p.Trp212Gly) | |
2 | g.61032078G>A | CA346944820 | PEX13 | c.752G>A (p.Trp251Ter) c.635G>A (p.Trp212Ter) | |
2 | g.61032078G>C | CA346944826 | PEX13 | c.752G>C (p.Trp251Ser) c.635G>C (p.Trp212Ser) | |
2 | g.61032078G>T | CA346944828 | PEX13 | c.752G>T (p.Trp251Leu) c.635G>T (p.Trp212Leu) | |
2 | g.61032079G>A | CA346944834 | PEX13 | c.753G>A (p.Trp251Ter) c.636G>A (p.Trp212Ter) | |
2 | g.61032079G>C | CA346944836 | PEX13 | c.753G>C (p.Trp251Cys) c.636G>C (p.Trp212Cys) | |
2 | g.61032079G>T | CA346944832 | PEX13 | c.753G>T (p.Trp251Cys) c.636G>T (p.Trp212Cys) | |
2 | g.61032080A>C | CA346944839 | PEX13 | c.754A>C (p.Lys252Gln) c.637A>C (p.Lys213Gln) | |
2 | g.61032080A>G | CA346944844 | PEX13 | c.754A>G (p.Lys252Glu) c.637A>G (p.Lys213Glu) | |
2 | g.61032080A>T | CA346944845 | PEX13 | c.754A>T (p.Lys252Ter) c.637A>T (p.Lys213Ter) | |
2 | g.61032081A= | CA1255168241 | PEX13 | c.755A= (p.Lys252=) c.638A= (p.Lys213=) | |
2 | g.61032081A>C | CA346944847 | PEX13 | c.755A>C (p.Lys252Thr) c.638A>C (p.Lys213Thr) | |
2 | g.61032081A>G | CA346944849 | PEX13 | c.755A>G (p.Lys252Arg) c.638A>G (p.Lys213Arg) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.61032081A>T | CA346944852 | PEX13 | c.755A>T (p.Lys252Ile) c.638A>T (p.Lys213Ile) | |
2 | g.61032082A>C | CA346944853 | PEX13 | c.756A>C (p.Lys252Asn) c.639A>C (p.Lys213Asn) | |
2 | g.61032082A>G | CA426411499 | PEX13 | c.756A>G (p.Lys252=) c.639A>G (p.Lys213=) | gnomAD v4 |
2 | g.61032082A>T | CA346944854 | PEX13 | c.756A>T (p.Lys252Asn) c.639A>T (p.Lys213Asn) | |
2 | g.61032083C>A | CA346944855 | PEX13 | c.757C>A (p.Leu253Ile) c.640C>A (p.Leu214Ile) | |
2 | g.61032083C>G | CA346944856 | PEX13 | c.757C>G (p.Leu253Val) c.640C>G (p.Leu214Val) | gnomAD v4 |
2 | g.61032083C>T | CA426411501 | PEX13 | c.757C>T (p.Leu253=) c.640C>T (p.Leu214=) | |
2 | g.61032084T>A | CA346944858 | PEX13 | c.758T>A (p.Leu253Gln) c.641T>A (p.Leu214Gln) | |
2 | g.61032084T>C | CA346944862 | PEX13 | c.758T>C (p.Leu253Pro) c.641T>C (p.Leu214Pro) | |
2 | g.61032084T>G | CA346944864 | PEX13 | c.758T>G (p.Leu253Arg) c.641T>G (p.Leu214Arg) | |
2 | g.61032085_61032086del | CA2576977551 | PEX13 | c.759_760del (p.Leu254ValfsTer5) c.642_643del (p.Leu215ValfsTer5) | ClinVar |
2 | g.61032085A= | CA1255168242 | PEX13 | c.759A= (p.Leu253=) c.642A= (p.Leu214=) | |
2 | g.61032085A>C | CA426411502 | PEX13 | c.759A>C (p.Leu253=) c.642A>C (p.Leu214=) | |
2 | g.61032085A>G | CA1673342 | PEX13 | c.759A>G (p.Leu253=) c.642A>G (p.Leu214=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.61032085A>T | CA426411503 | PEX13 | c.759A>T (p.Leu253=) c.642A>T (p.Leu214=) | ClinVar |
2 | g.61032086T>A | CA346944869 | PEX13 | c.760T>A (p.Leu254Met) c.643T>A (p.Leu215Met) | gnomAD v4 |
2 | g.61032086T>C | CA426411505 | PEX13 | c.760T>C (p.Leu254=) c.643T>C (p.Leu215=) | |
2 | g.61032086T>G | CA346944870 | PEX13 | c.760T>G (p.Leu254Val) c.643T>G (p.Leu215Val) | |
2 | g.61032087T>A | CA346944874 | PEX13 | c.761T>A (p.Leu254Ter) c.644T>A (p.Leu215Ter) | |
2 | g.61032087T>C | CA346944877 | PEX13 | c.761T>C (p.Leu254Ser) c.644T>C (p.Leu215Ser) | |
2 | g.61032087T>G | CA346944880 | PEX13 | c.761T>G (p.Leu254Trp) c.644T>G (p.Leu215Trp) | |
2 | g.61032087T= | CA1255168243 | PEX13 | c.761T= (p.Leu254=) c.644T= (p.Leu215=) | |
2 | g.61032087_61032088insTTA | CA1255168244 | PEX13 | c.761_762insTTA (p.Leu254PhefsTer2) c.644_645insTTA (p.Leu215PhefsTer2) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.61032088G>A | CA426411507 | PEX13 | c.762G>A (p.Leu254=) c.645G>A (p.Leu215=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.61032088G>C | CA346944884 | PEX13 | c.762G>C (p.Leu254Phe) c.645G>C (p.Leu215Phe) | |
2 | g.61032088G= | CA1255168245 | PEX13 | c.762G= (p.Leu254=) c.645G= (p.Leu215=) | |
2 | g.61032088G>T | CA346944885 | PEX13 | c.762G>T (p.Leu254Phe) c.645G>T (p.Leu215Phe) | |
2 | g.61032089T>A | CA346944887 | PEX13 | c.763T>A (p.Ser255Thr) c.646T>A (p.Ser216Thr) | |
2 | g.61032089T>C | CA346944890 | PEX13 | c.763T>C (p.Ser255Pro) c.646T>C (p.Ser216Pro) | gnomAD v4 |
2 | g.61032089T>G | CA346944894 | PEX13 | c.763T>G (p.Ser255Ala) c.646T>G (p.Ser216Ala) | |
2 | g.61032090C>A | CA346944896 | PEX13 | c.764C>A (p.Ser255Tyr) c.647C>A (p.Ser216Tyr) | gnomAD v4 |
2 | g.61032090C>G | CA346944897 | PEX13 | c.764C>G (p.Ser255Cys) c.647C>G (p.Ser216Cys) | gnomAD v4 |
2 | g.61032090C>T | CA346944899 | PEX13 | c.764C>T (p.Ser255Phe) c.647C>T (p.Ser216Phe) | gnomAD v4 |
2 | g.61032091T>A | CA426411508 | PEX13 | c.765T>A (p.Ser255=) c.648T>A (p.Ser216=) | dbSNP |
2 | g.61032091T>C | CA426411509 | PEX13 | c.765T>C (p.Ser255=) c.648T>C (p.Ser216=) | |
2 | g.61032091T>G | CA426411510 | PEX13 | c.765T>G (p.Ser255=) c.648T>G (p.Ser216=) | |
2 | g.61032091T= | CA1255168246 | PEX13 | c.765T= (p.Ser255=) c.648T= (p.Ser216=) | |
2 | g.61032092A= | CA1255168247 | PEX13 | c.766A= (p.Thr256=) c.649A= (p.Thr217=) | |
2 | g.61032092A>C | CA346944905 | PEX13 | c.766A>C (p.Thr256Pro) c.649A>C (p.Thr217Pro) | |
2 | g.61032092A>G | CA1673343 | PEX13 | c.766A>G (p.Thr256Ala) c.649A>G (p.Thr217Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.61032092A>T | CA346944902 | PEX13 | c.766A>T (p.Thr256Ser) c.649A>T (p.Thr217Ser) | |
2 | g.61032093C>A | CA346944916 | PEX13 | c.767C>A (p.Thr256Asn) c.650C>A (p.Thr217Asn) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.61032093C= | CA1255168248 | PEX13 | c.767C= (p.Thr256=) c.650C= (p.Thr217=) | |
2 | g.61032093C>G | CA346944920 | PEX13 | c.767C>G (p.Thr256Ser) c.650C>G (p.Thr217Ser) | |
2 | g.61032093C>T | CA48342662 | PEX13 | c.767C>T (p.Thr256Ile) c.650C>T (p.Thr217Ile) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.61032094T>A | CA426411514 | PEX13 | c.768T>A (p.Thr256=) c.651T>A (p.Thr217=) | |
2 | g.61032094T>C | CA426411515 | PEX13 | c.768T>C (p.Thr256=) c.651T>C (p.Thr217=) | |
2 | g.61032094T>G | CA426411516 | PEX13 | c.768T>G (p.Thr256=) c.651T>G (p.Thr217=) | |
2 | g.61032095C>A | CA346944923 | PEX13 | c.769C>A (p.His257Asn) c.652C>A (p.His218Asn) | gnomAD v4 |
2 | g.61032095C= | CA1255168249 | PEX13 | c.769C= (p.His257=) c.652C= (p.His218=) | |
2 | g.61032095C>G | CA346944940 | PEX13 | c.769C>G (p.His257Asp) c.652C>G (p.His218Asp) | |
2 | g.61032095C>T | CA1673344 | PEX13 | c.769C>T (p.His257Tyr) c.652C>T (p.His218Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
2 | g.61032096A>C | CA346944943 | PEX13 | c.770A>C (p.His257Pro) c.653A>C (p.His218Pro) | |
2 | g.61032096A>G | CA346944948 | PEX13 | c.770A>G (p.His257Arg) c.653A>G (p.His218Arg) | |
2 | g.61032096A>T | CA346944958 | PEX13 | c.770A>T (p.His257Leu) c.653A>T (p.His218Leu) | |
2 | g.61032097C>A | CA346944961 | PEX13 | c.771C>A (p.His257Gln) c.654C>A (p.His218Gln) | |
2 | g.61032097C= | CA1255168250 | PEX13 | c.771C= (p.His257=) c.654C= (p.His218=) | |
2 | g.61032097C>G | CA1673345 | PEX13 | c.771C>G (p.His257Gln) c.654C>G (p.His218Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.61032097C>T | CA426411519 | PEX13 | c.771C>T (p.His257=) c.654C>T (p.His218=) | |
2 | g.61032098A>C | CA346944964 | PEX13 | c.772A>C (p.Ser258Arg) c.655A>C (p.Ser219Arg) | |
2 | g.61032098A>G | CA346944968 | PEX13 | c.772A>G (p.Ser258Gly) c.655A>G (p.Ser219Gly) | |
2 | g.61032098A>T | CA346944970 | PEX13 | c.772A>T (p.Ser258Cys) c.655A>T (p.Ser219Cys) | |
2 | g.61032099G>A | CA346944973 | PEX13 | c.773G>A (p.Ser258Asn) c.656G>A (p.Ser219Asn) | gnomAD v4 |
2 | g.61032099G>C | CA346944974 | PEX13 | c.773G>C (p.Ser258Thr) c.656G>C (p.Ser219Thr) | |
2 | g.61032099G>T | CA346944977 | PEX13 | c.773G>T (p.Ser258Ile) c.656G>T (p.Ser219Ile) | |
2 | g.61032100T>A | CA1673346 | PEX13 | c.774T>A (p.Ser258Arg) c.657T>A (p.Ser219Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.61032100T>C | CA426411520 | PEX13 | c.774T>C (p.Ser258=) c.657T>C (p.Ser219=) | |
2 | g.61032100T>G | CA346944983 | PEX13 | c.774T>G (p.Ser258Arg) c.657T>G (p.Ser219Arg) | |
2 | g.61032100T= | CA1255168251 | PEX13 | c.774T= (p.Ser258=) c.657T= (p.Ser219=) | |
2 | g.61032101G>A | CA346944986 | PEX13 | c.775G>A (p.Asp259Asn) c.658G>A (p.Asp220Asn) | gnomAD v4 |
2 | g.61032101G>C | CA346944991 | PEX13 | c.775G>C (p.Asp259His) c.658G>C (p.Asp220His) | |
2 | g.61032101G>T | CA346944989 | PEX13 | c.775G>T (p.Asp259Tyr) c.658G>T (p.Asp220Tyr) | |
2 | g.61032101_61032102delinsGA | CA1255168252 | PEX13 | c.775_776delinsGA (p.Asp259=) c.658_659delinsGA (p.Asp220=) | |
2 | g.61032102del | CA1031326229 | PEX13 | c.776del (p.Asp259ValfsTer3) c.659del (p.Asp220ValfsTer3) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.61032102A>C | CA346944994 | PEX13 | c.776A>C (p.Asp259Ala) c.659A>C (p.Asp220Ala) | |
2 | g.61032102A>G | CA346944996 | PEX13 | c.776A>G (p.Asp259Gly) c.659A>G (p.Asp220Gly) | gnomAD v4 |
2 | g.61032102A>T | CA346944999 | PEX13 | c.776A>T (p.Asp259Val) c.659A>T (p.Asp220Val) | |
2 | g.61032103T>A | CA346945002 | PEX13 | c.777T>A (p.Asp259Glu) c.660T>A (p.Asp220Glu) | |
2 | g.61032103T>C | CA1673347 | PEX13 | c.777T>C (p.Asp259=) c.660T>C (p.Asp220=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.61032103T>G | CA346945007 | PEX13 | c.777T>G (p.Asp259Glu) c.660T>G (p.Asp220Glu) | |
2 | g.61032103T= | CA1255168253 | PEX13 | c.777T= (p.Asp259=) c.660T= (p.Asp220=) | |
2 | g.61032104G>A | CA346945010 | PEX13 | c.778G>A (p.Glu260Lys) c.661G>A (p.Glu221Lys) | |
2 | g.61032104G>C | CA346945014 | PEX13 | c.778G>C (p.Glu260Gln) c.661G>C (p.Glu221Gln) | ClinVar gnomAD v4 |
2 | g.61032104G>T | CA346945015 | PEX13 | c.778G>T (p.Glu260Ter) c.661G>T (p.Glu221Ter) | |
2 | g.61032105A>C | CA346945018 | PEX13 | c.779A>C (p.Glu260Ala) c.662A>C (p.Glu221Ala) | |
2 | g.61032105A>G | CA346945017 | PEX13 | c.779A>G (p.Glu260Gly) c.662A>G (p.Glu221Gly) | |
2 | g.61032105A>T | CA346945016 | PEX13 | c.779A>T (p.Glu260Val) c.662A>T (p.Glu221Val) | |
2 | g.61032106A>C | CA346945019 | PEX13 | c.780A>C (p.Glu260Asp) c.663A>C (p.Glu221Asp) | |
2 | g.61032106A>G | CA426411526 | PEX13 | c.780A>G (p.Glu260=) c.663A>G (p.Glu221=) | gnomAD v4 |
2 | g.61032106A>T | CA346945020 | PEX13 | c.780A>T (p.Glu260Asp) c.663A>T (p.Glu221Asp) | |
2 | g.61032107G>A | CA346945024 | PEX13 | c.781G>A (p.Val261Ile) c.664G>A (p.Val222Ile) | |
2 | g.61032107G>C | CA346945026 | PEX13 | c.781G>C (p.Val261Leu) c.664G>C (p.Val222Leu) | gnomAD v4 |
2 | g.61032107G>T | CA346945028 | PEX13 | c.781G>T (p.Val261Leu) c.664G>T (p.Val222Leu) | |
2 | g.61032108T>A | CA346945038 | PEX13 | c.782T>A (p.Val261Glu) c.665T>A (p.Val222Glu) | |
2 | g.61032108T>C | CA346945035 | PEX13 | c.782T>C (p.Val261Ala) c.665T>C (p.Val222Ala) | |
2 | g.61032108T>G | CA346945032 | PEX13 | c.782T>G (p.Val261Gly) c.665T>G (p.Val222Gly) | gnomAD v4 |
2 | g.61032109A>C | CA426411529 | PEX13 | c.783A>C (p.Val261=) c.666A>C (p.Val222=) | |
2 | g.61032109A>G | CA426411530 | PEX13 | c.783A>G (p.Val261=) c.666A>G (p.Val222=) | |
2 | g.61032109A>T | CA426411531 | PEX13 | c.783A>T (p.Val261=) c.666A>T (p.Val222=) | |
2 | g.61032110A>C | CA346945043 | PEX13 | c.784A>C (p.Thr262Pro) c.667A>C (p.Thr223Pro) | |
2 | g.61032110A>G | CA346945046 | PEX13 | c.784A>G (p.Thr262Ala) c.667A>G (p.Thr223Ala) | |
2 | g.61032110A>T | CA346945047 | PEX13 | c.784A>T (p.Thr262Ser) c.667A>T (p.Thr223Ser) | |
2 | g.61032111C>A | CA346945049 | PEX13 | c.785C>A (p.Thr262Lys) c.668C>A (p.Thr223Lys) | gnomAD v4 |
2 | g.61032111C>G | CA346945053 | PEX13 | c.785C>G (p.Thr262Arg) c.668C>G (p.Thr223Arg) | |
2 | g.61032111C>T | CA346945056 | PEX13 | c.785C>T (p.Thr262Ile) c.668C>T (p.Thr223Ile) | gnomAD v4 |
2 | g.61032112A>C | CA426411533 | PEX13 | c.786A>C (p.Thr262=) c.669A>C (p.Thr223=) | |
2 | g.61032112A>G | CA426411534 | PEX13 | c.786A>G (p.Thr262=) c.669A>G (p.Thr223=) | |
2 | g.61032112A>T | CA426411535 | PEX13 | c.786A>T (p.Thr262=) c.669A>T (p.Thr223=) | |
2 | g.61032112_61032113delinsAG | CA1255168254 | PEX13 | c.786_787delinsAG (p.Thr262=) c.669_670delinsAG (p.Thr223=) | |
2 | g.61032113G>A | CA346945061 | PEX13 | c.787G>A (p.Asp263Asn) c.670G>A (p.Asp224Asn) | dbSNP gnomAD v4 |
2 | g.61032113G>C | CA48342705 | PEX13 | c.787G>C (p.Asp263His) c.670G>C (p.Asp224His) | ClinVar dbSNP gnomAD v4 |
2 | g.61032113G= | CA1255168255 | PEX13 | c.787G= (p.Asp263=) c.670G= (p.Asp224=) | |
2 | g.61032113G>T | CA346945063 | PEX13 | c.787G>T (p.Asp263Tyr) c.670G>T (p.Asp224Tyr) | |
2 | g.61032114del | CA533180163 | PEX13 | c.787+1del c.670+1del | dbSNP gnomAD v2 gnomAD v4 |
2 | g.61032113_61032114insACAGCATCAACTGGGCAAGTGGTGAGGATGACCATGTA | CA2699601669 | PEX13 | c.787_787+1insACAGCATCAACTGGGCAAGTGGTGAGGATGACCATGTA (n.787_787+1insACAGCATCAACTGGGCAAGTGGTGAGGATGACCATGTA) c.670_670+1insACAGCATCAACTGGGCAAGTGGTGAGGATGACCATGTA (n.670_670+1insACAGCATCAACTGGGCAAGTGGTGAGGATGACCATGTA) | dbSNP |
2 | g.61032114G>A | CA346945076 | PEX13 | c.787+1G>A (n.787+1G>A) c.670+1G>A (n.670+1G>A) | ClinVar dbSNP |
2 | g.61032114G>C | CA346945078 | PEX13 | c.787+1G>C (n.787+1G>C) c.670+1G>C (n.670+1G>C) | |
2 | g.61032114G>T | CA346945084 | PEX13 | c.787+1G>T (n.787+1G>T) c.670+1G>T (n.670+1G>T) | |
2 | g.61032115T>A | CA346945089 | PEX13 | c.787+2T>A (n.787+2T>A) c.670+2T>A (n.670+2T>A) | |
2 | g.61032115T>C | CA346945091 | PEX13 | c.787+2T>C (n.787+2T>C) c.670+2T>C (n.670+2T>C) | |
2 | g.61032115T>G | CA346945095 | PEX13 | c.787+2T>G (n.787+2T>G) c.670+2T>G (n.670+2T>G) | |
2 | g.61032115_61032120delinsTAAGAG | CA1255168256 | PEX13 | c.787+2_787+7delinsTAAGAG (n.787+2_787+7delinsTAAGAG) c.670+2_670+7delinsTAAGAG (n.670+2_670+7delinsTAAGAG) | |
2 | g.61032118_61032122del | CA533180164 | PEX13 | c.787+5_787+9del (n.787+5_787+9del) c.670+5_670+9del (n.670+5_670+9del) | dbSNP gnomAD v2 |
2 | g.61032118G>A | CA2659190628 | PEX13 | c.787+5G>A (n.787+5G>A) c.670+5G>A (n.670+5G>A) | gnomAD v4 |
2 | g.61032119A>G | CA2576977552 | PEX13 | c.787+6A>G (n.787+6A>G) c.670+6A>G (n.670+6A>G) | gnomAD v4 |
2 | g.61032120G>C | CA48342739 | PEX13 | c.787+7G>C (n.787+7G>C) c.670+7G>C (n.670+7G>C) | dbSNP |
2 | g.61032120G= | CA1255168257 | PEX13 | c.787+7G= (n.787+7G=) c.670+7G= (n.670+7G=) | |
2 | g.61032123C>A | CA2576977553 | PEX13 | c.787+10C>A (n.787+10C>A) c.670+10C>A (n.670+10C>A) | gnomAD v4 |
2 | g.61032123C>T | CA2580067858 | PEX13 | c.787+10C>T (n.787+10C>T) c.670+10C>T (n.670+10C>T) | ClinVar |
2 | g.61032124T>G | CA2576977554 | PEX13 | c.787+11T>G (n.787+11T>G) c.670+11T>G (n.670+11T>G) | |
2 | g.61032125G>A | CA1673348 | PEX13 | c.787+12G>A (n.787+12G>A) c.670+12G>A (n.670+12G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.61032125G= | CA1255168258 | PEX13 | c.787+12G= (n.787+12G=) c.670+12G= (n.670+12G=) | |
2 | g.61032125G>T | CA2580067859 | PEX13 | c.787+12G>T (n.787+12G>T) c.670+12G>T (n.670+12G>T) | ClinVar |
2 | g.61032126T>A | CA2659190629 | PEX13 | c.787+13T>A (n.787+13T>A) c.670+13T>A (n.670+13T>A) | gnomAD v4 |
2 | g.61032126T>C | CA1673349 | PEX13 | c.787+13T>C (n.787+13T>C) c.670+13T>C (n.670+13T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.61032126T= | CA1255168259 | PEX13 | c.787+13T= (n.787+13T=) c.670+13T= (n.670+13T=) | |
2 | g.61032127A>C | CA2659190630 | PEX13 | c.787+14A>C (n.787+14A>C) c.670+14A>C (n.670+14A>C) | gnomAD v4 |
2 | g.61032127A>G | CA2659190631 | PEX13 | c.787+14A>G (n.787+14A>G) c.670+14A>G (n.670+14A>G) | gnomAD v4 |