Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
22 | g.18078359del | CA2655183337 | PEX26 | c.-18del (n.-18del) | gnomAD v4 |
22 | g.18078359C>A | CA513184562 | PEX26 | c.-18C>A (n.-18C>A) | gnomAD v4 |
22 | g.18078359C>G | CA513184563 | PEX26 | c.-18C>G (n.-18C>G) | |
22 | g.18078359C>T | CA513184564 | PEX26 | c.-18C>T (n.-18C>T) | gnomAD v4 |
22 | g.18078360T>A | CA513184565 | PEX26 | c.-17T>A (n.-17T>A) | gnomAD v4 |
22 | g.18078360T>C | CA513184567 | PEX26 | c.-17T>C (n.-17T>C) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.18078360T>G | CA513184568 | PEX26 | c.-17T>G (n.-17T>G) | |
22 | g.18078360T= | CA2395402703 | PEX26 | c.-17T= (n.-17T=) | |
22 | g.18078360_18078361insA | CA2655183345 | PEX26 | c.-17_-16insA (n.-17_-16insA) | gnomAD v4 |
22 | g.18078361T>A | CA513184571 | PEX26 | c.-16T>A (n.-16T>A) | |
22 | g.18078361T>C | CA513184570 | PEX26 | c.-16T>C (n.-16T>C) | gnomAD v4 |
22 | g.18078361T>G | CA513184569 | PEX26 | c.-16T>G (n.-16T>G) | dbSNP gnomAD v4 |
22 | g.18078361T= | CA2395402704 | PEX26 | c.-16T= (n.-16T=) | |
22 | g.18078362G>A | CA513184572 | PEX26 | c.-15G>A (n.-15G>A) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.18078362G>C | CA513184573 | PEX26 | c.-15G>C (n.-15G>C) | |
22 | g.18078362G= | CA2395402705 | PEX26 | c.-15G= (n.-15G=) | |
22 | g.18078362G>T | CA321284180 | PEX26 | c.-15G>T (n.-15G>T) | dbSNP gnomAD v4 |
22 | g.18078363G>A | CA513184574 | PEX26 | c.-14G>A (n.-14G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.18078363G>C | CA513184575 | PEX26 | c.-14G>C (n.-14G>C) | |
22 | g.18078363G= | CA2395402706 | PEX26 | c.-14G= (n.-14G=) | |
22 | g.18078363G>T | CA513184576 | PEX26 | c.-14G>T (n.-14G>T) | gnomAD v4 |
22 | g.18078364A>C | CA513184577 | PEX26 | c.-13A>C (n.-13A>C) | |
22 | g.18078364A>G | CA513184578 | PEX26 | c.-13A>G (n.-13A>G) | gnomAD v4 |
22 | g.18078364A>T | CA513184580 | PEX26 | c.-13A>T (n.-13A>T) | |
22 | g.18078364_18078365delinsAC | CA2395402707 | PEX26 | c.-13_-12delinsAC (n.-13_-12delinsAC) | |
22 | g.18078365C>A | CA513184581 | PEX26 | c.-12C>A (n.-12C>A) | gnomAD v4 |
22 | g.18078365C>G | CA513184582 | PEX26 | c.-12C>G (n.-12C>G) | |
22 | g.18078365C>T | CA513184583 | PEX26 | c.-12C>T (n.-12C>T) | gnomAD v4 |
22 | g.18078367del | CA638502281 | PEX26 | c.-10del (n.-10del) | dbSNP gnomAD v2 |
22 | g.18078366C>A | CA513184586 | PEX26 | c.-11C>A (n.-11C>A) | gnomAD v4 |
22 | g.18078366C>G | CA513184587 | PEX26 | c.-11C>G (n.-11C>G) | |
22 | g.18078366C>T | CA513184585 | PEX26 | c.-11C>T (n.-11C>T) | gnomAD v4 |
22 | g.18078367C>A | CA513184588 | PEX26 | c.-10C>A (n.-10C>A) | gnomAD v4 |
22 | g.18078367C= | CA2395402708 | PEX26 | c.-10C= (n.-10C=) | |
22 | g.18078367C>G | CA513184589 | PEX26 | c.-10C>G (n.-10C>G) | |
22 | g.18078367C>T | CA513184590 | PEX26 | c.-10C>T (n.-10C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.18078368G>A | CA513184592 | PEX26 | c.-9G>A (n.-9G>A) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.18078368G>C | CA513184594 | PEX26 | c.-9G>C (n.-9G>C) | gnomAD v4 |
22 | g.18078368G= | CA2395402709 | PEX26 | c.-9G= (n.-9G=) | |
22 | g.18078368G>T | CA513184595 | PEX26 | c.-9G>T (n.-9G>T) | gnomAD v4 |
22 | g.18078369G>A | CA513184596 | PEX26 | c.-8G>A (n.-8G>A) | gnomAD v4 |
22 | g.18078369G>C | CA513184597 | PEX26 | c.-8G>C (n.-8G>C) | |
22 | g.18078369G>T | CA513184598 | PEX26 | c.-8G>T (n.-8G>T) | gnomAD v4 |
22 | g.18078370A= | CA2395402710 | PEX26 | c.-7A= (n.-7A=) | |
22 | g.18078370A>C | CA513184599 | PEX26 | c.-7A>C (n.-7A>C) | |
22 | g.18078370A>G | CA10093189 | PEX26 | c.-7A>G (n.-7A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.18078370A>T | CA513184600 | PEX26 | c.-7A>T (n.-7A>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.18078371C>A | CA513184602 | PEX26 | c.-6C>A (n.-6C>A) | gnomAD v4 |
22 | g.18078371C>G | CA513184604 | PEX26 | c.-6C>G (n.-6C>G) | |
22 | g.18078371C>T | CA513184601 | PEX26 | c.-6C>T (n.-6C>T) | gnomAD v4 |
22 | g.18078372T>A | CA513184606 | PEX26 | c.-5T>A (n.-5T>A) | |
22 | g.18078372T>C | CA513184607 | PEX26 | c.-5T>C (n.-5T>C) | |
22 | g.18078372T>G | CA513184608 | PEX26 | c.-5T>G (n.-5T>G) | |
22 | g.18078373C>A | CA513184609 | PEX26 | c.-4C>A (n.-4C>A) | gnomAD v4 |
22 | g.18078373C= | CA2395402711 | PEX26 | c.-4C= (n.-4C=) | |
22 | g.18078373C>G | CA513184610 | PEX26 | c.-4C>G (n.-4C>G) | |
22 | g.18078373C>T | CA513184611 | PEX26 | c.-4C>T (n.-4C>T) | dbSNP gnomAD v4 |
22 | g.18078374G>A | CA513184614 | PEX26 | c.-3G>A (n.-3G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.18078374G>C | CA513184612 | PEX26 | c.-3G>C (n.-3G>C) | gnomAD v4 |
22 | g.18078374G= | CA2395402712 | PEX26 | c.-3G= (n.-3G=) | |
22 | g.18078374G>T | CA513184613 | PEX26 | c.-3G>T (n.-3G>T) | gnomAD v4 |
22 | g.18078374_18078377del | CA2573157697 | PEX26 | c.-3_1del | dbSNP |
22 | g.18078374_18078393delinsTGCAGCCCCCCTCAGGGGGCTCGGGG | CA2740094766 | PEX26 | c.-3_17delinsTGCAGCCCCCCTCAGGGGGCTCGGGG | ClinVar |
22 | g.18078375T>A | CA513184615 | PEX26 | c.-2T>A (n.-2T>A) | |
22 | g.18078375T>C | CA10093190 | PEX26 | c.-2T>C (n.-2T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.18078375T>G | CA513184616 | PEX26 | c.-2T>G (n.-2T>G) | |
22 | g.18078375T= | CA2395402713 | PEX26 | c.-2T= (n.-2T=) | |
22 | g.18078376del | CA2655183392 | PEX26 | c.-1del (n.-1del) | gnomAD v4 |
22 | g.18078376T>A | CA513184617 | PEX26 | c.-1T>A (n.-1T>A) | |
22 | g.18078376T>C | CA513184619 | PEX26 | c.-1T>C (n.-1T>C) | gnomAD v4 |
22 | g.18078376T>G | CA513184620 | PEX26 | c.-1T>G (n.-1T>G) | gnomAD v4 |
22 | g.18078377A>C | CA410263933 | PEX26 | c.1A>C (p.Met1Leu) | |
22 | g.18078377A>G | CA410263926 | PEX26 | c.1A>G (p.Met1Val) | |
22 | g.18078377A>T | CA410263929 | PEX26 | c.1A>T (p.Met1Leu) | gnomAD v4 |
22 | g.18078378T>A | CA410263937 | PEX26 | c.2T>A (p.Met1Lys) | |
22 | g.18078378T>C | CA115372 | PEX26 | c.2T>C (p.Met1Thr) | ClinVar dbSNP gnomAD v4 |
22 | g.18078378T>G | CA410263942 | PEX26 | c.2T>G (p.Met1Arg) | dbSNP gnomAD v2 |
22 | g.18078378T= | CA2395402714 | PEX26 | c.2T= (p.Met1=) | |
22 | g.18078379G>A | CA410263946 | PEX26 | c.3G>A (p.Met1Ile) | |
22 | g.18078379G>C | CA410263950 | PEX26 | c.3G>C (p.Met1Ile) | |
22 | g.18078379G>T | CA410263953 | PEX26 | c.3G>T (p.Met1Ile) | gnomAD v4 |
22 | g.18078381_18078383del | CA2513240593 | PEX26 | c.5_7del (p.Lys2del) | |
22 | g.18078380A>C | CA410263957 | PEX26 | c.4A>C (p.Lys2Gln) | |
22 | g.18078380A>G | CA410263959 | PEX26 | c.4A>G (p.Lys2Glu) | |
22 | g.18078380A>T | CA410263961 | PEX26 | c.4A>T (p.Lys2Ter) | |
22 | g.18078381A>C | CA410263962 | PEX26 | c.5A>C (p.Lys2Thr) | |
22 | g.18078381A>G | CA410263963 | PEX26 | c.5A>G (p.Lys2Arg) | |
22 | g.18078381A>T | CA410263964 | PEX26 | c.5A>T (p.Lys2Met) | gnomAD v4 |
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) |