Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
22 | g.18078374_18078393delinsTGCAGCCCCCCTCAGGGGGCTCGGGG | CA2740094766 | PEX26 | c.-3_17delinsTGCAGCCCCCCTCAGGGGGCTCGGGG | ClinVar |
22 | g.18078381_18078383del | CA2513240593 | PEX26 | c.5_7del (p.Lys2del) | |
22 | g.18078382G>A | CA513184623 | PEX26 | c.6G>A (p.Lys2=) | gnomAD v4 |
22 | g.18078382G>C | CA410263966 | PEX26 | c.6G>C (p.Lys2Asn) | |
22 | g.18078382G>T | CA410263967 | PEX26 | c.6G>T (p.Lys2Asn) | gnomAD v4 |
22 | g.18078383A>C | CA410263972 | PEX26 | c.7A>C (p.Ser3Arg) | |
22 | g.18078383A>G | CA410263973 | PEX26 | c.7A>G (p.Ser3Gly) | gnomAD v4 |
22 | g.18078383A>T | CA410263977 | PEX26 | c.7A>T (p.Ser3Cys) | |
22 | g.18078384G>A | CA410263980 | PEX26 | c.8G>A (p.Ser3Asn) | |
22 | g.18078384G>C | CA410263983 | PEX26 | c.8G>C (p.Ser3Thr) | |
22 | g.18078384G>T | CA410263986 | PEX26 | c.8G>T (p.Ser3Ile) | gnomAD v4 |
22 | g.18078385C>A | CA410263989 | PEX26 | c.9C>A (p.Ser3Arg) | gnomAD v4 |
22 | g.18078385C= | CA2395402715 | PEX26 | c.9C= (p.Ser3=) | |
22 | g.18078385C>G | CA410263991 | PEX26 | c.9C>G (p.Ser3Arg) | gnomAD v4 |
22 | g.18078385C>T | CA321284197 | PEX26 | c.9C>T (p.Ser3=) | ClinVar dbSNP gnomAD v4 |
22 | g.18078386G>A | CA410263995 | PEX26 | c.10G>A (p.Asp4Asn) | gnomAD v4 |
22 | g.18078386G>C | CA410263997 | PEX26 | c.10G>C (p.Asp4His) | gnomAD v4 |
22 | g.18078386G>T | CA410264000 | PEX26 | c.10G>T (p.Asp4Tyr) | gnomAD v4 |
22 | g.18078387A= | CA2395402716 | PEX26 | c.11A= (p.Asp4=) | |
22 | g.18078387A>C | CA410264003 | PEX26 | c.11A>C (p.Asp4Ala) | |
22 | g.18078387A>G | CA410264005 | PEX26 | c.11A>G (p.Asp4Gly) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.18078387A>T | CA410264008 | PEX26 | c.11A>T (p.Asp4Val) | |
22 | g.18078388T>A | CA410264014 | PEX26 | c.12T>A (p.Asp4Glu) | |
22 | g.18078388T>C | CA513184630 | PEX26 | c.12T>C (p.Asp4=) | ClinVar dbSNP |
22 | g.18078388T>G | CA410264018 | PEX26 | c.12T>G (p.Asp4Glu) | |
22 | g.18078389T>A | CA410264022 | PEX26 | c.13T>A (p.Ser5Thr) | |
22 | g.18078389T>C | CA410264024 | PEX26 | c.13T>C (p.Ser5Pro) | dbSNP |
22 | g.18078389T>G | CA410264027 | PEX26 | c.13T>G (p.Ser5Ala) | |
22 | g.18078389T= | CA2395402717 | PEX26 | c.13T= (p.Ser5=) | |
22 | g.18078390C>A | CA410264031 | PEX26 | c.14C>A (p.Ser5Tyr) | gnomAD v4 |
22 | g.18078390C= | CA2395402718 | PEX26 | c.14C= (p.Ser5=) | |
22 | g.18078390C>G | CA410264035 | PEX26 | c.14C>G (p.Ser5Cys) | |
22 | g.18078390C>T | CA410264038 | PEX26 | c.14C>T (p.Ser5Phe) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.18078391T>A | CA513184632 | PEX26 | c.15T>A (p.Ser5=) | |
22 | g.18078391T>C | CA513184633 | PEX26 | c.15T>C (p.Ser5=) | ClinVar dbSNP gnomAD v4 |
22 | g.18078391T>G | CA513184634 | PEX26 | c.15T>G (p.Ser5=) | |
22 | g.18078392T>A | CA410264042 | PEX26 | c.16T>A (p.Ser6Thr) | |
22 | g.18078392T>C | CA410264044 | PEX26 | c.16T>C (p.Ser6Pro) | |
22 | g.18078392T>G | CA410264048 | PEX26 | c.16T>G (p.Ser6Ala) | |
22 | g.18078393C>A | CA321284208 | PEX26 | c.17C>A (p.Ser6Ter) | dbSNP gnomAD v4 |
22 | g.18078393C= | CA2395402719 | PEX26 | c.17C= (p.Ser6=) | |
22 | g.18078393C>G | CA410264053 | PEX26 | c.17C>G (p.Ser6Trp) | gnomAD v4 |
22 | g.18078393C>T | CA410264055 | PEX26 | c.17C>T (p.Ser6Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
22 | g.18078394G>A | CA10093191 | PEX26 | c.18G>A (p.Ser6=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
22 | g.18078394G>C | CA513184636 | PEX26 | c.18G>C (p.Ser6=) | gnomAD v4 |
22 | g.18078394G= | CA2395402720 | PEX26 | c.18G= (p.Ser6=) | |
22 | g.18078394G>T | CA513184637 | PEX26 | c.18G>T (p.Ser6=) | dbSNP gnomAD v4 |
22 | g.18078395A>C | CA410264067 | PEX26 | c.19A>C (p.Thr7Pro) | |
22 | g.18078395A>G | CA410264064 | PEX26 | c.19A>G (p.Thr7Ala) | |
22 | g.18078395A>T | CA410264070 | PEX26 | c.19A>T (p.Thr7Ser) | |
22 | g.18078396C>A | CA410264074 | PEX26 | c.20C>A (p.Thr7Asn) | gnomAD v4 |
22 | g.18078396C= | CA2395402721 | PEX26 | c.20C= (p.Thr7=) | |
22 | g.18078396C>G | CA410264077 | PEX26 | c.20C>G (p.Thr7Ser) | |
22 | g.18078396C>T | CA410264080 | PEX26 | c.20C>T (p.Thr7Ile) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
22 | g.18078397C>A | CA513184639 | PEX26 | c.21C>A (p.Thr7=) | gnomAD v4 |
22 | g.18078397C>G | CA513184640 | PEX26 | c.21C>G (p.Thr7=) | |
22 | g.18078397C>T | CA513184641 | PEX26 | c.21C>T (p.Thr7=) | |
22 | g.18078398T>A | CA321284215 | PEX26 | c.22T>A (p.Ser8Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.18078398T>C | CA410264086 | PEX26 | c.22T>C (p.Ser8Pro) | gnomAD v4 |
22 | g.18078398T>G | CA410264089 | PEX26 | c.22T>G (p.Ser8Ala) | |
22 | g.18078398T= | CA2395402722 | PEX26 | c.22T= (p.Ser8=) | |
22 | g.18078399C>A | CA410264093 | PEX26 | c.23C>A (p.Ser8Tyr) | gnomAD v4 |
22 | g.18078399C= | CA2395402723 | PEX26 | c.23C= (p.Ser8=) | |
22 | g.18078399C>G | CA410264097 | PEX26 | c.23C>G (p.Ser8Cys) | gnomAD v4 |
22 | g.18078399C>T | CA10093192 | PEX26 | c.23C>T (p.Ser8Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.18078403_18078434dup | CA638502283 | PEX26 | c.27_58dup (p.Arg20GlnfsTer?) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.18078400T>A | CA513184645 | PEX26 | c.24T>A (p.Ser8=) | |
22 | g.18078400T>C | CA513184646 | PEX26 | c.24T>C (p.Ser8=) | gnomAD v4 |
22 | g.18078400T>G | CA513184647 | PEX26 | c.24T>G (p.Ser8=) | dbSNP |
22 | g.18078400T= | CA2395402724 | PEX26 | c.24T= (p.Ser8=) | |
22 | g.18078401G>A | CA410264100 | PEX26 | c.25G>A (p.Ala9Thr) | gnomAD v4 |
22 | g.18078401G>C | CA410264102 | PEX26 | c.25G>C (p.Ala9Pro) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.18078401G= | CA2395402725 | PEX26 | c.25G= (p.Ala9=) | |
22 | g.18078401G>T | CA410264104 | PEX26 | c.25G>T (p.Ala9Ser) | gnomAD v4 |
22 | g.18078402C>A | CA410264109 | PEX26 | c.26C>A (p.Ala9Glu) | gnomAD v4 |
22 | g.18078402C>G | CA410264106 | PEX26 | c.26C>G (p.Ala9Gly) | |
22 | g.18078402C>T | CA410264108 | PEX26 | c.26C>T (p.Ala9Val) | |
22 | g.18078403A>C | CA513184651 | PEX26 | c.27A>C (p.Ala9=) | |
22 | g.18078403A>G | CA513184652 | PEX26 | c.27A>G (p.Ala9=) | gnomAD v4 |
22 | g.18078403A>T | CA513184653 | PEX26 | c.27A>T (p.Ala9=) | |
22 | g.18078403_18078404delinsAG | CA2395402726 | PEX26 | c.27_28delinsAG (p.Ala9=) | |
22 | g.18078404del | CA2395402727 | PEX26 | c.28del (p.Ala10ProfsTer?) | ClinVar dbSNP |
22 | g.18078404G>A | CA410264111 | PEX26 | c.28G>A (p.Ala10Thr) | gnomAD v4 |
22 | g.18078404G>C | CA410264113 | PEX26 | c.28G>C (p.Ala10Pro) | |
22 | g.18078404G>T | CA410264115 | PEX26 | c.28G>T (p.Ala10Ser) | gnomAD v4 |
22 | g.18078404_18078405delinsGC | CA2395402728 | PEX26 | c.28_29delinsGC (p.Ala10=) | |
22 | g.18078405C>A | CA410264118 | PEX26 | c.29C>A (p.Ala10Asp) | gnomAD v4 |
22 | g.18078405C= | CA2395402729 | PEX26 | c.29C= (p.Ala10=) | |
22 | g.18078405C>G | CA410264120 | PEX26 | c.29C>G (p.Ala10Gly) | gnomAD v4 |
22 | g.18078405C>T | CA10093193 | PEX26 | c.29C>T (p.Ala10Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.18078410dup | CA115371 | PEX26 | c.34dup (p.Leu12ProfsTer?) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.[18078410dup;18085113_18085259del] | CA2742038402 | PEX26 | c.[34dup;669_814+1del] c.[34dup;667+1381_667+1527del] (p.Leu12ProfsTer?) c.[34dup;371+5099_371+5245del] (p.Leu12ProfsTer?) | |
22 | g.18078410del | CA638502284 | PEX26 | c.34del (p.Leu12SerfsTer?) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.18078406C>A | CA513184656 | PEX26 | c.30C>A (p.Ala10=) | ClinVar gnomAD v4 |
22 | g.18078406C= | CA2395402730 | PEX26 | c.30C= (p.Ala10=) | |
22 | g.18078406C>G | CA513184657 | PEX26 | c.30C>G (p.Ala10=) | |
22 | g.18078406C>T | CA10093194 | PEX26 | c.30C>T (p.Ala10=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.18078407C>A | CA410264124 | PEX26 | c.31C>A (p.Pro11Thr) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.18078407C= | CA2395402731 | PEX26 | c.31C= (p.Pro11=) | |
22 | g.18078407C>G | CA410264126 | PEX26 | c.31C>G (p.Pro11Ala) | |
22 | g.18078407C>T | CA10093195 | PEX26 | c.31C>T (p.Pro11Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.18078408C>A | CA10093197 | PEX26 | c.32C>A (p.Pro11His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.18078408C= | CA2395402732 | PEX26 | c.32C= (p.Pro11=) | |
22 | g.18078408C>G | CA410264131 | PEX26 | c.32C>G (p.Pro11Arg) | |
22 | g.18078408C>T | CA10093196 | PEX26 | c.32C>T (p.Pro11Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.18078409C>A | CA513184660 | PEX26 | c.33C>A (p.Pro11=) | gnomAD v4 |
22 | g.18078409C= | CA2395402733 | PEX26 | c.33C= (p.Pro11=) | |
22 | g.18078409C>G | CA10093199 | PEX26 | c.33C>G (p.Pro11=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.18078409C>T | CA10093198 | PEX26 | c.33C>T (p.Pro11=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.18078410C>A | CA10093200 | PEX26 | c.34C>A (p.Leu12Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.18078410C= | CA2395402734 | PEX26 | c.34C= (p.Leu12=) | |
22 | g.18078410C>G | CA321284262 | PEX26 | c.34C>G (p.Leu12Val) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.18078410C>T | CA10093201 | PEX26 | c.34C>T (p.Leu12Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.18078411del | CA2655183572 | PEX26 | c.35del (p.Leu12ProfsTer?) | gnomAD v4 |
22 | g.18078411T>A | CA410264138 | PEX26 | c.35T>A (p.Leu12His) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.18078411T>C | CA410264140 | PEX26 | c.35T>C (p.Leu12Pro) | ClinVar gnomAD v4 |
22 | g.18078411T>G | CA410264142 | PEX26 | c.35T>G (p.Leu12Arg) | |
22 | g.18078411T= | CA2395402735 | PEX26 | c.35T= (p.Leu12=) | |
22 | g.18078412C>A | CA513184672 | PEX26 | c.36C>A (p.Leu12=) | ClinVar gnomAD v4 |
22 | g.18078412C= | CA2395402737 | PEX26 | c.36C= (p.Leu12=) | |
22 | g.18078412C>G | CA513184674 | PEX26 | c.36C>G (p.Leu12=) | ClinVar gnomAD v4 |
22 | g.18078412C>T | CA10093202 | PEX26 | c.36C>T (p.Leu12=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.18078412_18078414delinsCAG | CA2395402736 | PEX26 | c.36_38delinsCAG (p.Leu12=) | |
22 | g.18078413A= | CA2395402738 | PEX26 | c.37A= (p.Arg13=) | |
22 | g.18078413A>C | CA513184677 | PEX26 | c.37A>C (p.Arg13=) | gnomAD v4 |
22 | g.18078413A>G | CA321284289 | PEX26 | c.37A>G (p.Arg13Gly) | dbSNP gnomAD v4 |
22 | g.18078413A>T | CA410264145 | PEX26 | c.37A>T (p.Arg13Trp) | |
22 | g.18078413_18078414del | CA321284285 | PEX26 | c.37_38del (p.Arg13GlyfsTer?) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
22 | g.18078414G>A | CA410264151 | PEX26 | c.38G>A (p.Arg13Lys) | gnomAD v4 |
22 | g.18078414G>C | CA410264150 | PEX26 | c.38G>C (p.Arg13Thr) | dbSNP gnomAD v4 |
22 | g.18078414G= | CA2395402739 | PEX26 | c.38G= (p.Arg13=) | |
22 | g.18078414G>T | CA410264148 | PEX26 | c.38G>T (p.Arg13Met) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
22 | g.18078418dup | CA2577641354 | PEX26 | c.42dup (p.Leu15AlafsTer?) | gnomAD v4 |
22 | g.18078418del | CA2655183586 | PEX26 | c.42del (p.Leu15SerfsTer?) | gnomAD v4 |
22 | g.18078415G>A | CA10093203 | PEX26 | c.39G>A (p.Arg13=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.18078415G>C | CA410264153 | PEX26 | c.39G>C (p.Arg13Ser) | |
22 | g.18078415G= | CA2395402740 | PEX26 | c.39G= (p.Arg13=) | |
22 | g.18078415G>T | CA410264154 | PEX26 | c.39G>T (p.Arg13Ser) | |
22 | g.18078416G>A | CA410264155 | PEX26 | c.40G>A (p.Gly14Arg) | ClinVar dbSNP gnomAD v4 |
22 | g.18078416G>C | CA410264156 | PEX26 | c.40G>C (p.Gly14Arg) | |
22 | g.18078416G= | CA2395402741 | PEX26 | c.40G= (p.Gly14=) | |
22 | g.18078416G>T | CA410264157 | PEX26 | c.40G>T (p.Gly14Trp) | gnomAD v4 |
22 | g.18078417G>A | CA410264158 | PEX26 | c.41G>A (p.Gly14Glu) | |
22 | g.18078417G>C | CA410264159 | PEX26 | c.41G>C (p.Gly14Ala) | |
22 | g.18078417G>T | CA410264161 | PEX26 | c.41G>T (p.Gly14Val) | gnomAD v4 |
22 | g.18078418G>A | CA10093204 | PEX26 | c.42G>A (p.Gly14=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.18078418G>C | CA513184698 | PEX26 | c.42G>C (p.Gly14=) | |
22 | g.18078418G= | CA2395402742 | PEX26 | c.42G= (p.Gly14=) | |
22 | g.18078418G>T | CA513184700 | PEX26 | c.42G>T (p.Gly14=) | gnomAD v4 |
22 | g.18078419C>A | CA410264164 | PEX26 | c.43C>A (p.Leu15Ile) | gnomAD v4 |
22 | g.18078419C= | CA2395402743 | PEX26 | c.43C= (p.Leu15=) | |
22 | g.18078419C>G | CA321284309 | PEX26 | c.43C>G (p.Leu15Val) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.18078419C>T | CA410264167 | PEX26 | c.43C>T (p.Leu15Phe) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
22 | g.18078420T>A | CA410264169 | PEX26 | c.44T>A (p.Leu15His) | |
22 | g.18078420T>C | CA410264171 | PEX26 | c.44T>C (p.Leu15Pro) | |
22 | g.18078420T>G | CA410264168 | PEX26 | c.44T>G (p.Leu15Arg) | |
22 | g.18078421C>A | CA513184709 | PEX26 | c.45C>A (p.Leu15=) | gnomAD v4 |
22 | g.18078421C= | CA2395402744 | PEX26 | c.45C= (p.Leu15=) | |
22 | g.18078421C>G | CA513184713 | PEX26 | c.45C>G (p.Leu15=) | |
22 | g.18078421C>T | CA513184711 | PEX26 | c.45C>T (p.Leu15=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
22 | g.18078421_18078434del | CA2655183646 | PEX26 | c.45_58del (p.Gly16GlnfsTer?) | gnomAD v4 |
22 | g.18078422G>A | CA410264176 | PEX26 | c.46G>A (p.Gly16Arg) | gnomAD v4 |
22 | g.18078422G>C | CA410264173 | PEX26 | c.46G>C (p.Gly16Arg) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.18078422G= | CA2395402745 | PEX26 | c.46G= (p.Gly16=) | |
22 | g.18078422G>T | CA410264175 | PEX26 | c.46G>T (p.Gly16Trp) | gnomAD v4 |
22 | g.18078426del | CA2655183655 | PEX26 | c.50del (p.Gly17AspfsTer?) | gnomAD v4 |
22 | g.18078423G>A | CA410264179 | PEX26 | c.47G>A (p.Gly16Glu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
22 | g.18078423G>C | CA410264180 | PEX26 | c.47G>C (p.Gly16Ala) | |
22 | g.18078423G= | CA2395402746 | PEX26 | c.47G= (p.Gly16=) | |
22 | g.18078423G>T | CA410264181 | PEX26 | c.47G>T (p.Gly16Val) | gnomAD v4 |
22 | g.18078424G>A | CA513184720 | PEX26 | c.48G>A (p.Gly16=) | ClinVar gnomAD v4 |
22 | g.18078424G>C | CA513184722 | PEX26 | c.48G>C (p.Gly16=) | |
22 | g.18078424G= | CA2395402747 | PEX26 | c.48G= (p.Gly16=) | |
22 | g.18078424G>T | CA10093205 | PEX26 | c.48G>T (p.Gly16=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.18078425G>A | CA10093206 | PEX26 | c.49G>A (p.Gly17Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.18078425G>C | CA410264187 | PEX26 | c.49G>C (p.Gly17Arg) | |
22 | g.18078425G= | CA2395402748 | PEX26 | c.49G= (p.Gly17=) | |
22 | g.18078425G>T | CA410264190 | PEX26 | c.49G>T (p.Gly17Ter) | |
22 | g.18078426G>A | CA10093207 | PEX26 | c.50G>A (p.Gly17Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.18078426G>C | CA410264194 | PEX26 | c.50G>C (p.Gly17Ala) | |
22 | g.18078426G= | CA2395402749 | PEX26 | c.50G= (p.Gly17=) | |
22 | g.18078426G>T | CA410264198 | PEX26 | c.50G>T (p.Gly17Val) | gnomAD v4 |
22 | g.18078427A= | CA2395402750 | PEX26 | c.51A= (p.Gly17=) | |
22 | g.18078427A>C | CA321284315 | PEX26 | c.51A>C (p.Gly17=) | dbSNP gnomAD v4 |
22 | g.18078427A>G | CA10093208 | PEX26 | c.51A>G (p.Gly17=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.18078427A>T | CA513184735 | PEX26 | c.51A>T (p.Gly17=) | |
22 | g.18078428C>A | CA410264212 | PEX26 | c.52C>A (p.Pro18Thr) | ClinVar dbSNP gnomAD v4 |
22 | g.18078428C= | CA2395402751 | PEX26 | c.52C= (p.Pro18=) | |
22 | g.18078428C>G | CA410264210 | PEX26 | c.52C>G (p.Pro18Ala) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.18078428C>T | CA321284316 | PEX26 | c.52C>T (p.Pro18Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.18078431del | CA2655183683 | PEX26 | c.55del (p.Leu19CysfsTer?) | gnomAD v4 |
22 | g.18078429C>A | CA410264214 | PEX26 | c.53C>A (p.Pro18His) | gnomAD v4 |
22 | g.18078429C= | CA2395402752 | PEX26 | c.53C= (p.Pro18=) | |
22 | g.18078429C>G | CA410264217 | PEX26 | c.53C>G (p.Pro18Arg) | |
22 | g.18078429C>T | CA410264220 | PEX26 | c.53C>T (p.Pro18Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
22 | g.18078430C>A | CA513184741 | PEX26 | c.54C>A (p.Pro18=) | gnomAD v4 |
22 | g.18078430C= | CA2395402753 | PEX26 | c.54C= (p.Pro18=) | |
22 | g.18078430C>G | CA513184743 | PEX26 | c.54C>G (p.Pro18=) | |
22 | g.18078430C>T | CA10093209 | PEX26 | c.54C>T (p.Pro18=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.18078431C>A | CA410264226 | PEX26 | c.55C>A (p.Leu19Met) | gnomAD v4 |
22 | g.18078431C= | CA2395402754 | PEX26 | c.55C= (p.Leu19=) | |
22 | g.18078431C>G | CA410264230 | PEX26 | c.55C>G (p.Leu19Val) | |
22 | g.18078431C>T | CA10093210 | PEX26 | c.55C>T (p.Leu19=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.18078432T>A | CA410264234 | PEX26 | c.56T>A (p.Leu19Gln) | gnomAD v4 |
22 | g.18078432T>C | CA410264237 | PEX26 | c.56T>C (p.Leu19Pro) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.18078432T>G | CA410264239 | PEX26 | c.56T>G (p.Leu19Arg) | |
22 | g.18078432T= | CA2395402755 | PEX26 | c.56T= (p.Leu19=) | |
22 | g.18078433G>A | CA321284317 | PEX26 | c.57G>A (p.Leu19=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.18078433G>C | CA513184754 | PEX26 | c.57G>C (p.Leu19=) | gnomAD v4 |
22 | g.18078433G= | CA2395402756 | PEX26 | c.57G= (p.Leu19=) | |
22 | g.18078433G>T | CA513184756 | PEX26 | c.57G>T (p.Leu19=) | gnomAD v4 |
22 | g.18078433_18078434insAGGGG | CA2655183738 | PEX26 | c.57_58insAGGGG (p.Ser21GlyfsTer?) | gnomAD v4 |
22 | g.18078434C>A | CA410264242 | PEX26 | c.58C>A (p.Arg20Ser) | gnomAD v4 |
22 | g.18078434C= | CA2395402757 | PEX26 | c.58C= (p.Arg20=) | |
22 | g.18078434C>G | CA410264245 | PEX26 | c.58C>G (p.Arg20Gly) | ClinVar dbSNP gnomAD v4 |
22 | g.18078434C>T | CA410264248 | PEX26 | c.58C>T (p.Arg20Cys) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.18078435G>A | CA410264256 | PEX26 | c.59G>A (p.Arg20His) | ClinVar gnomAD v4 |
22 | g.18078435G>C | CA410264258 | PEX26 | c.59G>C (p.Arg20Pro) | |
22 | g.18078435G>T | CA410264251 | PEX26 | c.59G>T (p.Arg20Leu) | gnomAD v4 |
22 | g.18078436C>A | CA513184766 | PEX26 | c.60C>A (p.Arg20=) | gnomAD v4 |
22 | g.18078436C= | CA2395402758 | PEX26 | c.60C= (p.Arg20=) | |
22 | g.18078436C>G | CA513184768 | PEX26 | c.60C>G (p.Arg20=) | |
22 | g.18078436C>T | CA513184769 | PEX26 | c.60C>T (p.Arg20=) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.18078437A>C | CA410264260 | PEX26 | c.61A>C (p.Ser21Arg) | |
22 | g.18078437A>G | CA410264263 | PEX26 | c.61A>G (p.Ser21Gly) | gnomAD v4 |
22 | g.18078437A>T | CA410264265 | PEX26 | c.61A>T (p.Ser21Cys) | gnomAD v4 |
22 | g.18078438G>A | CA410264270 | PEX26 | c.62G>A (p.Ser21Asn) | gnomAD v4 |
22 | g.18078438G>C | CA410264272 | PEX26 | c.62G>C (p.Ser21Thr) | |
22 | g.18078438G>T | CA410264275 | PEX26 | c.62G>T (p.Ser21Ile) | gnomAD v4 |
22 | g.18078439C>A | CA410264280 | PEX26 | c.63C>A (p.Ser21Arg) | gnomAD v4 |
22 | g.18078439C= | CA2395402759 | PEX26 | c.63C= (p.Ser21=) | |
22 | g.18078439C>G | CA410264282 | PEX26 | c.63C>G (p.Ser21Arg) | |
22 | g.18078439C>T | CA513184779 | PEX26 | c.63C>T (p.Ser21=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
22 | g.18078440A>C | CA410264289 | PEX26 | c.64A>C (p.Ser22Arg) | |
22 | g.18078440A>G | CA410264292 | PEX26 | c.64A>G (p.Ser22Gly) | |
22 | g.18078440A>T | CA410264295 | PEX26 | c.64A>T (p.Ser22Cys) | |
22 | g.18078441G>A | CA10093211 | PEX26 | c.65G>A (p.Ser22Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.18078441G>C | CA410264302 | PEX26 | c.65G>C (p.Ser22Thr) | gnomAD v4 |
22 | g.18078441G= | CA2395402760 | PEX26 | c.65G= (p.Ser22=) | |
22 | g.18078441G>T | CA410264298 | PEX26 | c.65G>T (p.Ser22Ile) | gnomAD v4 |
22 | g.18078442C>A | CA410264306 | PEX26 | c.66C>A (p.Ser22Arg) | gnomAD v4 |
22 | g.18078442C= | CA2395402761 | PEX26 | c.66C= (p.Ser22=) | |
22 | g.18078442C>G | CA10093212 | PEX26 | c.66C>G (p.Ser22Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.18078442C>T | CA513184788 | PEX26 | c.66C>T (p.Ser22=) | ClinVar dbSNP gnomAD v4 |
22 | g.18078443G>A | CA410264312 | PEX26 | c.67G>A (p.Glu23Lys) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.18078443G>C | CA410264314 | PEX26 | c.67G>C (p.Glu23Gln) | gnomAD v4 |
22 | g.18078443G= | CA2395402762 | PEX26 | c.67G= (p.Glu23=) | |
22 | g.18078443G>T | CA410264317 | PEX26 | c.67G>T (p.Glu23Ter) | gnomAD v4 |
22 | g.18078444A>C | CA410264322 | PEX26 | c.68A>C (p.Glu23Ala) | |
22 | g.18078444A>G | CA410264325 | PEX26 | c.68A>G (p.Glu23Gly) | gnomAD v4 |
22 | g.18078444A>T | CA410264329 | PEX26 | c.68A>T (p.Glu23Val) | |
22 | g.18078445G>A | CA513184800 | PEX26 | c.69G>A (p.Glu23=) | ClinVar |
22 | g.18078445G>C | CA410264336 | PEX26 | c.69G>C (p.Glu23Asp) | |
22 | g.18078445G= | CA2395402763 | PEX26 | c.69G= (p.Glu23=) | |
22 | g.18078445G>T | CA410264338 | PEX26 | c.69G>T (p.Glu23Asp) | dbSNP gnomAD v4 |
22 | g.18078446C>A | CA410264342 | PEX26 | c.70C>A (p.Pro24Thr) | gnomAD v4 |
22 | g.18078446C= | CA2395402764 | PEX26 | c.70C= (p.Pro24=) | |
22 | g.18078446C>G | CA410264344 | PEX26 | c.70C>G (p.Pro24Ala) | |
22 | g.18078446C>T | CA410264347 | PEX26 | c.70C>T (p.Pro24Ser) | dbSNP gnomAD v4 |
22 | g.18078447del | CA2695200060 | PEX26 | c.71del (p.Pro24ArgfsTer?) | ClinVar |
22 | g.18078447C>A | CA410264352 | PEX26 | c.71C>A (p.Pro24Gln) | gnomAD v4 |
22 | g.18078447C= | CA2395402765 | PEX26 | c.71C= (p.Pro24=) | |
22 | g.18078447C>G | CA10093213 | PEX26 | c.71C>G (p.Pro24Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.18078447C>T | CA10093214 | PEX26 | c.71C>T (p.Pro24Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.18078449_18078455del | CA2695230397 | PEX26 | c.73_79del (p.Val25ArgfsTer?) | ClinVar |
22 | g.18078448G>A | CA513184813 | PEX26 | c.72G>A (p.Pro24=) | ClinVar gnomAD v4 |
22 | g.18078448G>C | CA513184810 | PEX26 | c.72G>C (p.Pro24=) | |
22 | g.18078448G= | CA2395402766 | PEX26 | c.72G= (p.Pro24=) | |
22 | g.18078448G>T | CA513184812 | PEX26 | c.72G>T (p.Pro24=) | dbSNP gnomAD v4 |
22 | g.18078449G>A | CA410264357 | PEX26 | c.73G>A (p.Val25Met) | gnomAD v4 |
22 | g.18078449G>C | CA410264353 | PEX26 | c.73G>C (p.Val25Leu) | dbSNP |
22 | g.18078449G= | CA2395402767 | PEX26 | c.73G= (p.Val25=) | |
22 | g.18078449G>T | CA410264355 | PEX26 | c.73G>T (p.Val25Leu) | gnomAD v4 |
22 | g.18078450T>A | CA410264360 | PEX26 | c.74T>A (p.Val25Glu) | |
22 | g.18078450T>C | CA410264362 | PEX26 | c.74T>C (p.Val25Ala) | |
22 | g.18078450T>G | CA410264365 | PEX26 | c.74T>G (p.Val25Gly) | ClinVar dbSNP |
22 | g.18078451G>A | CA10093215 | PEX26 | c.75G>A (p.Val25=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.18078451G>C | CA513184822 | PEX26 | c.75G>C (p.Val25=) | |
22 | g.18078451G= | CA2395402768 | PEX26 | c.75G= (p.Val25=) | |
22 | g.18078451G>T | CA513184824 | PEX26 | c.75G>T (p.Val25=) | gnomAD v4 |
22 | g.18078452C>A | CA410264372 | PEX26 | c.76C>A (p.Arg26Ser) | gnomAD v4 COSMIC |
22 | g.18078452C>G | CA410264375 | PEX26 | c.76C>G (p.Arg26Gly) | |
22 | g.18078452C>T | CA410264378 | PEX26 | c.76C>T (p.Arg26Cys) | gnomAD v4 |
22 | g.18078453G>A | CA10093216 | PEX26 | c.77G>A (p.Arg26His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.18078453G>C | CA321284353 | PEX26 | c.77G>C (p.Arg26Pro) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.18078453G= | CA2395402769 | PEX26 | c.77G= (p.Arg26=) | |
22 | g.18078453G>T | CA410264385 | PEX26 | c.77G>T (p.Arg26Leu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
22 | g.18078454C>A | CA513184833 | PEX26 | c.78C>A (p.Arg26=) | gnomAD v4 |
22 | g.18078454C= | CA2395402770 | PEX26 | c.78C= (p.Arg26=) | |
22 | g.18078454C>G | CA513184835 | PEX26 | c.78C>G (p.Arg26=) | ClinVar gnomAD v4 |
22 | g.18078454C>T | CA513184837 | PEX26 | c.78C>T (p.Arg26=) | dbSNP gnomAD v4 |
22 | g.18078455G>A | CA10093217 | PEX26 | c.79G>A (p.Ala27Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.18078455G>C | CA410264392 | PEX26 | c.79G>C (p.Ala27Pro) | |
22 | g.18078455G= | CA2395402771 | PEX26 | c.79G= (p.Ala27=) | |
22 | g.18078455G>T | CA410264388 | PEX26 | c.79G>T (p.Ala27Ser) | gnomAD v4 |
22 | g.18078456C>A | CA410264398 | PEX26 | c.80C>A (p.Ala27Glu) | gnomAD v4 |
22 | g.18078456C>G | CA410264401 | PEX26 | c.80C>G (p.Ala27Gly) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.18078456C>T | CA410264404 | PEX26 | c.80C>T (p.Ala27Val) | gnomAD v4 |
22 | g.18078457G>A | CA513184846 | PEX26 | c.81G>A (p.Ala27=) | dbSNP gnomAD v4 |
22 | g.18078457G>C | CA513184847 | PEX26 | c.81G>C (p.Ala27=) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.18078457G= | CA2395402772 | PEX26 | c.81G= (p.Ala27=) | |
22 | g.18078457G>T | CA513184849 | PEX26 | c.81G>T (p.Ala27=) | gnomAD v4 |
22 | g.18078458G>A | CA410264407 | PEX26 | c.82G>A (p.Val28Ile) | |
22 | g.18078458G>C | CA410264409 | PEX26 | c.82G>C (p.Val28Leu) | |
22 | g.18078458G= | CA2395402773 | PEX26 | c.82G= (p.Val28=) | |
22 | g.18078458G>T | CA410264412 | PEX26 | c.82G>T (p.Val28Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.18078459T>A | CA410264415 | PEX26 | c.83T>A (p.Val28Asp) | |
22 | g.18078459T>C | CA410264418 | PEX26 | c.83T>C (p.Val28Ala) | |
22 | g.18078459T>G | CA410264422 | PEX26 | c.83T>G (p.Val28Gly) | |
22 | g.18078460C>A | CA513184862 | PEX26 | c.84C>A (p.Val28=) | gnomAD v4 |
22 | g.18078460C= | CA2395402774 | PEX26 | c.84C= (p.Val28=) | |
22 | g.18078460C>G | CA321284366 | PEX26 | c.84C>G (p.Val28=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.18078460C>T | CA513184865 | PEX26 | c.84C>T (p.Val28=) | ClinVar gnomAD v4 |
22 | g.18078461C>A | CA410264427 | PEX26 | c.85C>A (p.Pro29Thr) | gnomAD v4 |
22 | g.18078461C>G | CA410264429 | PEX26 | c.85C>G (p.Pro29Ala) | |
22 | g.18078461C>T | CA410264433 | PEX26 | c.85C>T (p.Pro29Ser) | gnomAD v4 |
22 | g.18078462C>A | CA410264441 | PEX26 | c.86C>A (p.Pro29Gln) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
22 | g.18078462C= | CA2395402775 | PEX26 | c.86C= (p.Pro29=) | |
22 | g.18078462C>G | CA410264444 | PEX26 | c.86C>G (p.Pro29Arg) | gnomAD v4 |
22 | g.18078462C>T | CA410264439 | PEX26 | c.86C>T (p.Pro29Leu) | |
22 | g.18078463G>A | CA10093218 | PEX26 | c.87G>A (p.Pro29=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.18078463G>C | CA513184876 | PEX26 | c.87G>C (p.Pro29=) | ClinVar |
22 | g.18078463G= | CA2395402776 | PEX26 | c.87G= (p.Pro29=) | |
22 | g.18078463G>T | CA513184873 | PEX26 | c.87G>T (p.Pro29=) | ClinVar |
22 | g.18078464G>A | CA410264452 | PEX26 | c.88G>A (p.Ala30Thr) | dbSNP gnomAD v2 |
22 | g.18078464G>C | CA410264455 | PEX26 | c.88G>C (p.Ala30Pro) | gnomAD v4 |
22 | g.18078464G= | CA2395402777 | PEX26 | c.88G= (p.Ala30=) | |
22 | g.18078464G>T | CA410264459 | PEX26 | c.88G>T (p.Ala30Ser) | gnomAD v4 |
22 | g.18078465C>A | CA410264461 | PEX26 | c.89C>A (p.Ala30Asp) | |
22 | g.18078465C= | CA2395402778 | PEX26 | c.89C= (p.Ala30=) | |
22 | g.18078465C>G | CA410264464 | PEX26 | c.89C>G (p.Ala30Gly) | |
22 | g.18078465C>T | CA10093219 | PEX26 | c.89C>T (p.Ala30Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.18078466C>A | CA513184889 | PEX26 | c.90C>A (p.Ala30=) | gnomAD v4 |
22 | g.18078466C>G | CA513184887 | PEX26 | c.90C>G (p.Ala30=) | |
22 | g.18078466C>T | CA513184885 | PEX26 | c.90C>T (p.Ala30=) | ClinVar gnomAD v4 |
22 | g.18078467C>A | CA513184892 | PEX26 | c.91C>A (p.Arg31=) | gnomAD v4 |
22 | g.18078467C= | CA2395402779 | PEX26 | c.91C= (p.Arg31=) | |
22 | g.18078467C>G | CA410264469 | PEX26 | c.91C>G (p.Arg31Gly) | dbSNP |
22 | g.18078467C>T | CA10093220 | PEX26 | c.91C>T (p.Arg31Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.18078468G>A | CA410264476 | PEX26 | c.92G>A (p.Arg31Gln) | ClinVar dbSNP gnomAD v4 |
22 | g.18078468G>C | CA410264480 | PEX26 | c.92G>C (p.Arg31Pro) | |
22 | g.18078468G= | CA2395402780 | PEX26 | c.92G= (p.Arg31=) | |
22 | g.18078468G>T | CA410264483 | PEX26 | c.92G>T (p.Arg31Leu) | gnomAD v4 |
22 | g.18078470del | CA2655183885 | PEX26 | c.94del (p.Ala32ArgfsTer?) | gnomAD v4 |
22 | g.18078469G>A | CA513184901 | PEX26 | c.93G>A (p.Arg31=) | gnomAD v4 |
22 | g.18078469G>C | CA513184904 | PEX26 | c.93G>C (p.Arg31=) | |
22 | g.18078469G>T | CA513184902 | PEX26 | c.93G>T (p.Arg31=) | |
22 | g.18078470G>A | CA410264487 | PEX26 | c.94G>A (p.Ala32Thr) | gnomAD v4 |
22 | g.18078470G>C | CA410264490 | PEX26 | c.94G>C (p.Ala32Pro) | |
22 | g.18078470G>T | CA410264493 | PEX26 | c.94G>T (p.Ala32Ser) | |
22 | g.18078471C>A | CA410264496 | PEX26 | c.95C>A (p.Ala32Glu) | gnomAD v4 |
22 | g.18078471C>G | CA410264502 | PEX26 | c.95C>G (p.Ala32Gly) | |
22 | g.18078471C>T | CA410264500 | PEX26 | c.95C>T (p.Ala32Val) | gnomAD v4 |
22 | g.18078472G>A | CA513184912 | PEX26 | c.96G>A (p.Ala32=) | gnomAD v4 |
22 | g.18078472G>C | CA513184913 | PEX26 | c.96G>C (p.Ala32=) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.18078472G= | CA2395402781 | PEX26 | c.96G= (p.Ala32=) | |
22 | g.18078472G>T | CA513184914 | PEX26 | c.96G>T (p.Ala32=) | ClinVar gnomAD v4 |
22 | g.18078473C>A | CA410264506 | PEX26 | c.97C>A (p.Pro33Thr) | |
22 | g.18078473C= | CA2395402782 | PEX26 | c.97C= (p.Pro33=) | |
22 | g.18078473C>G | CA410264509 | PEX26 | c.97C>G (p.Pro33Ala) | |
22 | g.18078473C>T | CA410264512 | PEX26 | c.97C>T (p.Pro33Ser) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.18078474C>A | CA410264516 | PEX26 | c.98C>A (p.Pro33Gln) | |
22 | g.18078474C= | CA2395402783 | PEX26 | c.98C= (p.Pro33=) | |
22 | g.18078474C>G | CA10093222 | PEX26 | c.98C>G (p.Pro33Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.18078474C>T | CA10093221 | PEX26 | c.98C>T (p.Pro33Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.18078475G>A | CA513184924 | PEX26 | c.99G>A (p.Pro33=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.18078475G>C | CA513184925 | PEX26 | c.99G>C (p.Pro33=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
22 | g.18078475G= | CA2395402784 | PEX26 | c.99G= (p.Pro33=) | |
22 | g.18078475G>T | CA513184927 | PEX26 | c.99G>T (p.Pro33=) | gnomAD v4 |
22 | g.18078476G>A | CA10093223 | PEX26 | c.100G>A (p.Ala34Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.18078476G>C | CA410264527 | PEX26 | c.100G>C (p.Ala34Pro) | |
22 | g.18078476G= | CA2395402785 | PEX26 | c.100G= (p.Ala34=) | |
22 | g.18078476G>T | CA410264530 | PEX26 | c.100G>T (p.Ala34Ser) | dbSNP gnomAD v4 |
22 | g.18078477C>A | CA410264536 | PEX26 | c.101C>A (p.Ala34Asp) | |
22 | g.18078477C>G | CA410264539 | PEX26 | c.101C>G (p.Ala34Gly) | |
22 | g.18078477C>T | CA410264543 | PEX26 | c.101C>T (p.Ala34Val) | gnomAD v4 |
22 | g.18078478C>A | CA513184936 | PEX26 | c.102C>A (p.Ala34=) | |
22 | g.18078478C= | CA2395402786 | PEX26 | c.102C= (p.Ala34=) | |
22 | g.18078478C>G | CA513184938 | PEX26 | c.102C>G (p.Ala34=) | ClinVar dbSNP gnomAD v4 |
22 | g.18078478C>T | CA513184939 | PEX26 | c.102C>T (p.Ala34=) | dbSNP gnomAD v2 |
22 | g.18078479G>A | CA10093224 | PEX26 | c.103G>A (p.Val35Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.18078479G>C | CA410264550 | PEX26 | c.103G>C (p.Val35Leu) | |
22 | g.18078479G= | CA2395402787 | PEX26 | c.103G= (p.Val35=) | |
22 | g.18078479G>T | CA410264545 | PEX26 | c.103G>T (p.Val35Leu) | gnomAD v4 |
22 | g.18078480T>A | CA410264559 | PEX26 | c.104T>A (p.Val35Glu) | |
22 | g.18078480T>C | CA410264563 | PEX26 | c.104T>C (p.Val35Ala) | |
22 | g.18078480T>G | CA410264561 | PEX26 | c.104T>G (p.Val35Gly) | |
22 | g.18078481G>A | CA321284390 | PEX26 | c.105G>A (p.Val35=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
22 | g.18078481G>C | CA513184950 | PEX26 | c.105G>C (p.Val35=) | |
22 | g.18078481G= | CA2395402788 | PEX26 | c.105G= (p.Val35=) | |
22 | g.18078481G>T | CA513184952 | PEX26 | c.105G>T (p.Val35=) | gnomAD v4 |
22 | g.18078482G>A | CA410264566 | PEX26 | c.106G>A (p.Asp36Asn) | |
22 | g.18078482G>C | CA410264567 | PEX26 | c.106G>C (p.Asp36His) | |
22 | g.18078482G>T | CA410264570 | PEX26 | c.106G>T (p.Asp36Tyr) | gnomAD v4 |