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New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.94418334G>A | CA524392879 | ABCD3 | c.-145G>A (n.-145G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94418334G= | CA1181573423 | ABCD3 | c.-145G= (n.-145G=) | |
| 1 | g.94418334G>T | CA2646662929 | ABCD3 | c.-145G>T (n.-145G>T) | gnomAD v4 |
| 1 | g.94418335G>C | CA740556288 | ABCD3 | c.-144G>C (n.-144G>C) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.94418335G= | CA1181573424 | ABCD3 | c.-144G= (n.-144G=) | |
| 1 | g.94418336C>A | CA2646662930 | ABCD3 | c.-143C>A (n.-143C>A) | gnomAD v4 |
| 1 | g.94418336C= | CA1181573425 | ABCD3 | c.-143C= (n.-143C=) | |
| 1 | g.94418336C>T | CA524392880 | ABCD3 | c.-143C>T (n.-143C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94418337G>A | CA524392881 | ABCD3 | c.-142G>A (n.-142G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94418337G>C | CA1004588732 | ABCD3 | c.-142G>C (n.-142G>C) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.94418337G= | CA1181573426 | ABCD3 | c.-142G= (n.-142G=) | |
| 1 | g.94418337G>T | CA2646662931 | ABCD3 | c.-142G>T (n.-142G>T) | gnomAD v4 |
| 1 | g.94418338G>A | CA2646662932 | ABCD3 | c.-141G>A (n.-141G>A) | gnomAD v4 |
| 1 | g.94418338G>T | CA2646662933 | ABCD3 | c.-141G>T (n.-141G>T) | gnomAD v4 |
| 1 | g.94418339C>A | CA2646662934 | ABCD3 | c.-140C>A (n.-140C>A) | gnomAD v4 |
| 1 | g.94418339C>T | CA2646662935 | ABCD3 | c.-140C>T (n.-140C>T) | gnomAD v4 |
| 1 | g.94418340G>A | CA2646662936 | ABCD3 | c.-139G>A (n.-139G>A) | gnomAD v4 |
| 1 | g.94418340G>T | CA2740161412 | ABCD3 | c.-139G>T (n.-139G>T) | |
| 1 | g.94418341C>A | CA2646662937 | ABCD3 | c.-138C>A (n.-138C>A) | gnomAD v4 |
| 1 | g.94418341C>G | CA2646662938 | ABCD3 | c.-138C>G (n.-138C>G) | gnomAD v4 |
| 1 | g.94418342G>T | CA2646662939 | ABCD3 | c.-137G>T (n.-137G>T) | gnomAD v4 |
| 1 | g.94418343A>G | CA2696518483 | ABCD3 | c.-136A>G (n.-136A>G) | dbSNP |
| 1 | g.94418343A>T | CA2646662940 | ABCD3 | c.-136A>T (n.-136A>T) | gnomAD v4 |
| 1 | g.94418344G>A | CA26875682 | ABCD3 | c.-135G>A (n.-135G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.94418344G= | CA1181573427 | ABCD3 | c.-135G= (n.-135G=) | |
| 1 | g.94418344G>T | CA1181573428 | ABCD3 | c.-135G>T (n.-135G>T) | dbSNP gnomAD v4 |
| 1 | g.94418344_94418370delinsGCCAGGGGGCGGTCCTGCGCGGCCGGC | CA1181573429 | ABCD3 | c.-135_-109delinsGCCAGGGGGCGGTCCTGCGCGGCCGGC (n.-135_-109delinsGCCAGGGGGCGGTCCTGCGCGGCCGGC) | |
| 1 | g.94418345C= | CA1181573431 | ABCD3 | c.-134C= (n.-134C=) | |
| 1 | g.94418345C>G | CA1004588744 | ABCD3 | c.-134C>G (n.-134C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.94418345C>T | CA1181573430 | ABCD3 | c.-134C>T (n.-134C>T) | dbSNP gnomAD v4 |
| 1 | g.94418347_94418372del | CA26875684 | ABCD3 | c.-132_-107del (n.-132_-107del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94418346C>A | CA2646662941 | ABCD3 | c.-133C>A (n.-133C>A) | gnomAD v4 |
| 1 | g.94418347A>C | CA2646662942 | ABCD3 | c.-132A>C (n.-132A>C) | gnomAD v4 |
| 1 | g.94418347A>G | CA2646662943 | ABCD3 | c.-132A>G (n.-132A>G) | dbSNP gnomAD v4 |
| 1 | g.94418347_94418348delinsAG | CA1181573432 | ABCD3 | c.-132_-131delinsAG (n.-132_-131delinsAG) | |
| 1 | g.94418348G>A | CA2646662946 | ABCD3 | c.-131G>A (n.-131G>A) | gnomAD v4 |
| 1 | g.94418348G>T | CA2646662945 | ABCD3 | c.-131G>T (n.-131G>T) | gnomAD v4 |
| 1 | g.94418352dup | CA2646662944 | ABCD3 | c.-127dup (n.-127dup) | gnomAD v4 |
| 1 | g.94418352del | CA26875687 | ABCD3 | c.-127del (n.-127del) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.94418349G>A | CA2646662947 | ABCD3 | c.-130G>A (n.-130G>A) | gnomAD v4 |
| 1 | g.94418350G>A | CA2646662948 | ABCD3 | c.-129G>A (n.-129G>A) | gnomAD v4 |
| 1 | g.94418350G>C | CA2646662949 | ABCD3 | c.-129G>C (n.-129G>C) | gnomAD v4 |
| 1 | g.94418350G>T | CA2646662950 | ABCD3 | c.-129G>T (n.-129G>T) | gnomAD v4 |
| 1 | g.94418351G>A | CA26875705 | ABCD3 | c.-128G>A (n.-128G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.94418351G>C | CA26875706 | ABCD3 | c.-128G>C (n.-128G>C) | dbSNP |
| 1 | g.94418351G= | CA1181573433 | ABCD3 | c.-128G= (n.-128G=) | |
| 1 | g.94418351G>T | CA2646662951 | ABCD3 | c.-128G>T (n.-128G>T) | gnomAD v4 |
| 1 | g.94418352G>A | CA1181573435 | ABCD3 | c.-127G>A (n.-127G>A) | dbSNP gnomAD v4 |
| 1 | g.94418352G>C | CA2646662952 | ABCD3 | c.-127G>C (n.-127G>C) | gnomAD v4 |
| 1 | g.94418352G= | CA1181573434 | ABCD3 | c.-127G= (n.-127G=) | |
| 1 | g.94418353C>A | CA2646662953 | ABCD3 | c.-126C>A (n.-126C>A) | gnomAD v4 |
| 1 | g.94418353C= | CA1181573436 | ABCD3 | c.-126C= (n.-126C=) | |
| 1 | g.94418353C>G | CA2744628701 | ABCD3 | c.-126C>G (n.-126C>G) | |
| 1 | g.94418353C>T | CA26875711 | ABCD3 | c.-126C>T (n.-126C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.94418354G>A | CA2646662954 | ABCD3 | c.-125G>A (n.-125G>A) | gnomAD v4 |
| 1 | g.94418354G>T | CA2646662955 | ABCD3 | c.-125G>T (n.-125G>T) | gnomAD v4 |
| 1 | g.94418355G>C | CA2646662956 | ABCD3 | c.-124G>C (n.-124G>C) | gnomAD v4 |
| 1 | g.94418355G>T | CA2646662957 | ABCD3 | c.-124G>T (n.-124G>T) | gnomAD v4 |
| 1 | g.94418356T>C | CA524392886 | ABCD3 | c.-123T>C (n.-123T>C) | dbSNP gnomAD v2 |
| 1 | g.94418356T>G | CA2646662958 | ABCD3 | c.-123T>G (n.-123T>G) | gnomAD v4 |
| 1 | g.94418356T= | CA1181573437 | ABCD3 | c.-123T= (n.-123T=) | |
| 1 | g.94418357C>A | CA2646662959 | ABCD3 | c.-122C>A (n.-122C>A) | gnomAD v4 |
| 1 | g.94418357C= | CA1181573438 | ABCD3 | c.-122C= (n.-122C=) | |
| 1 | g.94418357C>T | CA740556302 | ABCD3 | c.-122C>T (n.-122C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.94418358C>A | CA2646662960 | ABCD3 | c.-121C>A (n.-121C>A) | gnomAD v4 |
| 1 | g.94418358C= | CA1140803045 | ABCD3 | c.-121C= (n.-121C=) | |
| 1 | g.94418358C>G | CA2646662961 | ABCD3 | c.-121C>G (n.-121C>G) | gnomAD v4 |
| 1 | g.94418358C>T | CA26875723 | ABCD3 | c.-121C>T (n.-121C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94418359T>C | CA2646662962 | ABCD3 | c.-120T>C (n.-120T>C) | gnomAD v4 |
| 1 | g.94418360G>A | CA1181573440 | ABCD3 | c.-119G>A (n.-119G>A) | dbSNP gnomAD v4 |
| 1 | g.94418360G= | CA1181573439 | ABCD3 | c.-119G= (n.-119G=) | |
| 1 | g.94418360G>T | CA2646662963 | ABCD3 | c.-119G>T (n.-119G>T) | gnomAD v4 |
| 1 | g.94418361C>A | CA2646662964 | ABCD3 | c.-118C>A (n.-118C>A) | gnomAD v4 |
| 1 | g.94418361C>T | CA2646662965 | ABCD3 | c.-118C>T (n.-118C>T) | gnomAD v4 |
| 1 | g.94418362G>A | CA2646662966 | ABCD3 | c.-117G>A (n.-117G>A) | gnomAD v4 |
| 1 | g.94418362G>C | CA2646662967 | ABCD3 | c.-117G>C (n.-117G>C) | gnomAD v4 |
| 1 | g.94418363C>A | CA2646662968 | ABCD3 | c.-116C>A (n.-116C>A) | gnomAD v4 |
| 1 | g.94418363C>T | CA2646662969 | ABCD3 | c.-116C>T (n.-116C>T) | gnomAD v4 |
| 1 | g.94418364G>A | CA2646662970 | ABCD3 | c.-115G>A (n.-115G>A) | gnomAD v4 |
| 1 | g.94418364G>C | CA1181573441 | ABCD3 | c.-115G>C (n.-115G>C) | dbSNP |
| 1 | g.94418364G= | CA1181573442 | ABCD3 | c.-115G= (n.-115G=) | |
| 1 | g.94418364G>T | CA2646662971 | ABCD3 | c.-115G>T (n.-115G>T) | gnomAD v4 |
| 1 | g.94418365G>A | CA2646662972 | ABCD3 | c.-114G>A (n.-114G>A) | gnomAD v4 |
| 1 | g.94418365G>T | CA2646662973 | ABCD3 | c.-114G>T (n.-114G>T) | gnomAD v4 |
| 1 | g.94418366C>A | CA2646662974 | ABCD3 | c.-113C>A (n.-113C>A) | gnomAD v4 |
| 1 | g.94418366C= | CA1181573443 | ABCD3 | c.-113C= (n.-113C=) | |
| 1 | g.94418366C>T | CA740556305 | ABCD3 | c.-113C>T (n.-113C>T) | dbSNP gnomAD v4 |
| 1 | g.94418369_94418374del | CA2602013205 | ABCD3 | c.-110_-105del (n.-110_-105del) | gnomAD v3 gnomAD v4 |
| 1 | g.94418367C>A | CA1004588749 | ABCD3 | c.-112C>A (n.-112C>A) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.94418367C= | CA1181573444 | ABCD3 | c.-112C= (n.-112C=) | |
| 1 | g.94418367C>G | CA1004588750 | ABCD3 | c.-112C>G (n.-112C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.94418367C>T | CA1181573445 | ABCD3 | c.-112C>T (n.-112C>T) | dbSNP gnomAD v4 |
| 1 | g.94418368G>A | CA2646662975 | ABCD3 | c.-111G>A (n.-111G>A) | gnomAD v4 |
| 1 | g.94418368G>T | CA2646662976 | ABCD3 | c.-111G>T (n.-111G>T) | gnomAD v4 |
| 1 | g.94418369G>A | CA2646662978 | ABCD3 | c.-110G>A (n.-110G>A) | gnomAD v4 |
| 1 | g.94418369G>T | CA2646662977 | ABCD3 | c.-110G>T (n.-110G>T) | dbSNP gnomAD v4 |
| 1 | g.94418370C>G | CA2646662979 | ABCD3 | c.-109C>G (n.-109C>G) | gnomAD v4 |
| 1 | g.94418370C>T | CA2646662980 | ABCD3 | c.-109C>T (n.-109C>T) | gnomAD v4 |
| 1 | g.94418371C>A | CA2646662981 | ABCD3 | c.-108C>A (n.-108C>A) | gnomAD v4 |
| 1 | g.94418371C= | CA1181573446 | ABCD3 | c.-108C= (n.-108C=) | |
| 1 | g.94418371C>G | CA26875731 | ABCD3 | c.-108C>G (n.-108C>G) | dbSNP gnomAD v4 |
| 1 | g.94418371C>T | CA2646662982 | ABCD3 | c.-108C>T (n.-108C>T) | gnomAD v4 |
| 1 | g.94418372C>A | CA2646662983 | ABCD3 | c.-107C>A (n.-107C>A) | gnomAD v4 |
| 1 | g.94418372C= | CA1181573447 | ABCD3 | c.-107C= (n.-107C=) | |
| 1 | g.94418372C>T | CA1181573448 | ABCD3 | c.-107C>T (n.-107C>T) | dbSNP gnomAD v4 |
| 1 | g.94418373C>A | CA2646662984 | ABCD3 | c.-106C>A (n.-106C>A) | gnomAD v4 |
| 1 | g.94418373C>T | CA2646662985 | ABCD3 | c.-106C>T (n.-106C>T) | gnomAD v4 |
| 1 | g.94418374G>A | CA1004588752 | ABCD3 | c.-105G>A (n.-105G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.94418374G>C | CA2646662986 | ABCD3 | c.-105G>C (n.-105G>C) | gnomAD v4 |
| 1 | g.94418374G= | CA1181573449 | ABCD3 | c.-105G= (n.-105G=) | |
| 1 | g.94418374G>T | CA2646662987 | ABCD3 | c.-105G>T (n.-105G>T) | gnomAD v4 |
| 1 | g.94418375C>A | CA2646662988 | ABCD3 | c.-104C>A (n.-104C>A) | gnomAD v4 |
| 1 | g.94418375C= | CA1181573450 | ABCD3 | c.-104C= (n.-104C=) | |
| 1 | g.94418375C>G | CA1181573451 | ABCD3 | c.-104C>G (n.-104C>G) | dbSNP |
| 1 | g.94418377C>A | CA2646662989 | ABCD3 | c.-102C>A (n.-102C>A) | gnomAD v4 |
| 1 | g.94418377C>G | CA2646662990 | ABCD3 | c.-102C>G (n.-102C>G) | gnomAD v4 |
| 1 | g.94418377C>T | CA2646662991 | ABCD3 | c.-102C>T (n.-102C>T) | gnomAD v4 |
| 1 | g.94418378T>A | CA740556310 | ABCD3 | c.-101T>A (n.-101T>A) | dbSNP |
| 1 | g.94418378T>C | CA524392890 | ABCD3 | c.-101T>C (n.-101T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94418378T= | CA1181573452 | ABCD3 | c.-101T= (n.-101T=) | |
| 1 | g.94418378_94418385del | CA2646662992 | ABCD3 | c.-101_-94del (n.-101_-94del) | gnomAD v4 |
| 1 | g.94418379C>A | CA2646662993 | ABCD3 | c.-100C>A (n.-100C>A) | gnomAD v4 |
| 1 | g.94418379C= | CA1181573453 | ABCD3 | c.-100C= (n.-100C=) | |
| 1 | g.94418379C>G | CA524392893 | ABCD3 | c.-100C>G (n.-100C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94418379C>T | CA2574439515 | ABCD3 | c.-100C>T (n.-100C>T) | gnomAD v4 |
| 1 | g.94418380T>G | CA2574439520 | ABCD3 | c.-99T>G (n.-99T>G) | |
| 1 | g.94418381G>A | CA524392896 | ABCD3 | c.-98G>A (n.-98G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94418381G= | CA1181573454 | ABCD3 | c.-98G= (n.-98G=) | |
| 1 | g.94418381G>T | CA2559217956 | ABCD3 | c.-98G>T (n.-98G>T) | |
| 1 | g.94418382C>A | CA2646662994 | ABCD3 | c.-97C>A (n.-97C>A) | gnomAD v4 |
| 1 | g.94418382C= | CA1181573455 | ABCD3 | c.-97C= (n.-97C=) | |
| 1 | g.94418382C>G | CA2646662995 | ABCD3 | c.-97C>G (n.-97C>G) | gnomAD v4 |
| 1 | g.94418382C>T | CA524392900 | ABCD3 | c.-97C>T (n.-97C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94418383T>C | CA1004588757 | ABCD3 | c.-96T>C (n.-96T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.94418383T= | CA1181573456 | ABCD3 | c.-96T= (n.-96T=) | |
| 1 | g.94418384C>A | CA2646662996 | ABCD3 | c.-95C>A (n.-95C>A) | gnomAD v4 |
| 1 | g.94418384C>G | CA2646662997 | ABCD3 | c.-95C>G (n.-95C>G) | gnomAD v4 |
| 1 | g.94418385T>A | CA1181573458 | ABCD3 | c.-94T>A (n.-94T>A) | dbSNP |
| 1 | g.94418385T>C | CA26875739 | ABCD3 | c.-94T>C (n.-94T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94418385T>G | CA26875744 | ABCD3 | c.-94T>G (n.-94T>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94418385T= | CA1181573457 | ABCD3 | c.-94T= (n.-94T=) | |
| 1 | g.94418386C>A | CA740556333 | ABCD3 | c.-93C>A (n.-93C>A) | dbSNP gnomAD v4 |
| 1 | g.94418386C= | CA1181573459 | ABCD3 | c.-93C= (n.-93C=) | |
| 1 | g.94418386C>G | CA2646662998 | ABCD3 | c.-93C>G (n.-93C>G) | gnomAD v4 |
| 1 | g.94418386C>T | CA2574439527 | ABCD3 | c.-93C>T (n.-93C>T) | gnomAD v4 |
| 1 | g.94418387C>A | CA2646662999 | ABCD3 | c.-92C>A (n.-92C>A) | gnomAD v4 |
| 1 | g.94418387C>T | CA2646663000 | ABCD3 | c.-92C>T (n.-92C>T) | gnomAD v4 |
| 1 | g.94418388T>C | CA2646663001 | ABCD3 | c.-91T>C (n.-91T>C) | gnomAD v4 |
| 1 | g.94418389C= | CA1181573460 | ABCD3 | c.-90C= (n.-90C=) | |
| 1 | g.94418389C>T | CA1181573461 | ABCD3 | c.-90C>T (n.-90C>T) | dbSNP gnomAD v4 |
| 1 | g.94418390C>A | CA2574439529 | ABCD3 | c.-89C>A (n.-89C>A) | gnomAD v4 |
| 1 | g.94418390C>G | CA2646663002 | ABCD3 | c.-89C>G (n.-89C>G) | gnomAD v4 |
| 1 | g.94418390C>T | CA2744628702 | ABCD3 | c.-89C>T (n.-89C>T) | |
| 1 | g.94418391C>A | CA2646663003 | ABCD3 | c.-88C>A (n.-88C>A) | gnomAD v4 |
| 1 | g.94418391C>G | CA2646663004 | ABCD3 | c.-88C>G (n.-88C>G) | gnomAD v4 |
| 1 | g.94418391C>T | CA2646663005 | ABCD3 | c.-88C>T (n.-88C>T) | gnomAD v4 |
| 1 | g.94418392A= | CA1181573462 | ABCD3 | c.-87A= (n.-87A=) | |
| 1 | g.94418392A>C | CA2574439533 | ABCD3 | c.-87A>C (n.-87A>C) | gnomAD v4 |
| 1 | g.94418392A>G | CA1004588762 | ABCD3 | c.-87A>G (n.-87A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.94418392A>T | CA2646663006 | ABCD3 | c.-87A>T (n.-87A>T) | gnomAD v4 |
| 1 | g.94418393G>C | CA740556334 | ABCD3 | c.-86G>C (n.-86G>C) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.94418393G= | CA1181573463 | ABCD3 | c.-86G= (n.-86G=) | |
| 1 | g.94418393G>T | CA2646663007 | ABCD3 | c.-86G>T (n.-86G>T) | gnomAD v4 |
| 1 | g.94418394T>C | CA2646663008 | ABCD3 | c.-85T>C (n.-85T>C) | gnomAD v4 |
| 1 | g.94418394T>G | CA1181573465 | ABCD3 | c.-85T>G (n.-85T>G) | dbSNP |
| 1 | g.94418394T= | CA1181573464 | ABCD3 | c.-85T= (n.-85T=) | |
| 1 | g.94418395C>A | CA2574439534 | ABCD3 | c.-84C>A (n.-84C>A) | gnomAD v4 |
| 1 | g.94418395C>G | CA2646663009 | ABCD3 | c.-84C>G (n.-84C>G) | gnomAD v4 |
| 1 | g.94418395C>T | CA2646663010 | ABCD3 | c.-84C>T (n.-84C>T) | gnomAD v4 |
| 1 | g.94418396T>A | CA2574439536 | ABCD3 | c.-83T>A (n.-83T>A) | |
| 1 | g.94418396T>C | CA2646663011 | ABCD3 | c.-83T>C (n.-83T>C) | gnomAD v4 |
| 1 | g.94418396T>G | CA2646663012 | ABCD3 | c.-83T>G (n.-83T>G) | gnomAD v4 |
| 1 | g.94418397C>A | CA26875747 | ABCD3 | c.-82C>A (n.-82C>A) | dbSNP gnomAD v4 |
| 1 | g.94418397C= | CA1181573466 | ABCD3 | c.-82C= (n.-82C=) | |
| 1 | g.94418397C>G | CA1004588768 | ABCD3 | c.-82C>G (n.-82C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.94418397C>T | CA1181573467 | ABCD3 | c.-82C>T (n.-82C>T) | dbSNP gnomAD v4 |
| 1 | g.94418401dup | CA2646663013 | ABCD3 | c.-78dup (n.-78dup) | gnomAD v4 |
| 1 | g.94418401del | CA2646663014 | ABCD3 | c.-78del (n.-78del) | gnomAD v4 |
| 1 | g.94418398C= | CA1181573468 | ABCD3 | c.-81C= (n.-81C=) | |
| 1 | g.94418398C>G | CA2646663015 | ABCD3 | c.-81C>G (n.-81C>G) | gnomAD v4 |
| 1 | g.94418398C>T | CA26875752 | ABCD3 | c.-81C>T (n.-81C>T) | dbSNP gnomAD v4 |
| 1 | g.94418399C>A | CA2646663016 | ABCD3 | c.-80C>A (n.-80C>A) | gnomAD v4 |
| 1 | g.94418399C= | CA1181573469 | ABCD3 | c.-80C= (n.-80C=) | |
| 1 | g.94418399C>G | CA26875757 | ABCD3 | c.-80C>G (n.-80C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94418399C>T | CA26875760 | ABCD3 | c.-80C>T (n.-80C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.94418400C>A | CA1181573471 | ABCD3 | c.-79C>A (n.-79C>A) | dbSNP gnomAD v4 |
| 1 | g.94418400C= | CA1181573470 | ABCD3 | c.-79C= (n.-79C=) | |
| 1 | g.94418400C>G | CA2646663017 | ABCD3 | c.-79C>G (n.-79C>G) | gnomAD v4 |
| 1 | g.94418400C>T | CA524392903 | ABCD3 | c.-79C>T (n.-79C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94418400_94418401insG | CA2646663018 | ABCD3 | c.-79_-78insG (n.-79_-78insG) | gnomAD v4 |
| 1 | g.94418401C>A | CA913292424 | ABCD3 | c.-78C>A (n.-78C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94418401C= | CA1181573472 | ABCD3 | c.-78C= (n.-78C=) | |
| 1 | g.94418401C>G | CA2646663019 | ABCD3 | c.-78C>G (n.-78C>G) | gnomAD v4 |
| 1 | g.94418401C>T | CA2574439537 | ABCD3 | c.-78C>T (n.-78C>T) | gnomAD v4 |
| 1 | g.94418402G>A | CA740556339 | ABCD3 | c.-77G>A (n.-77G>A) | dbSNP gnomAD v4 |
| 1 | g.94418402G= | CA1181573473 | ABCD3 | c.-77G= (n.-77G=) | |
| 1 | g.94418402G>T | CA2646663020 | ABCD3 | c.-77G>T (n.-77G>T) | gnomAD v4 |
| 1 | g.94418403C>A | CA2646663021 | ABCD3 | c.-76C>A (n.-76C>A) | gnomAD v4 |
| 1 | g.94418403C>T | CA2646663022 | ABCD3 | c.-76C>T (n.-76C>T) | gnomAD v4 |
| 1 | g.94418404G>A | CA2574439538 | ABCD3 | c.-75G>A (n.-75G>A) | gnomAD v4 |
| 1 | g.94418404G>T | CA2574439539 | ABCD3 | c.-75G>T (n.-75G>T) | gnomAD v4 |
| 1 | g.94418405C>A | CA2646663023 | ABCD3 | c.-74C>A (n.-74C>A) | gnomAD v4 |
| 1 | g.94418405C= | CA1181573474 | ABCD3 | c.-74C= (n.-74C=) | |
| 1 | g.94418405C>G | CA1181573475 | ABCD3 | c.-74C>G (n.-74C>G) | dbSNP |
| 1 | g.94418405C>T | CA1181573476 | ABCD3 | c.-74C>T (n.-74C>T) | dbSNP gnomAD v4 |
| 1 | g.94418406T>C | CA2646663025 | ABCD3 | c.-73T>C (n.-73T>C) | gnomAD v4 |
| 1 | g.94418406T>G | CA2646663024 | ABCD3 | c.-73T>G (n.-73T>G) | gnomAD v4 |
| 1 | g.94418407G>A | CA2646663026 | ABCD3 | c.-72G>A (n.-72G>A) | gnomAD v4 |
| 1 | g.94418407G>T | CA2696518514 | ABCD3 | c.-72G>T (n.-72G>T) | dbSNP |
| 1 | g.94418408C>A | CA2646663027 | ABCD3 | c.-71C>A (n.-71C>A) | gnomAD v4 |
| 1 | g.94418408C= | CA1181573477 | ABCD3 | c.-71C= (n.-71C=) | |
| 1 | g.94418408C>G | CA2646663028 | ABCD3 | c.-71C>G (n.-71C>G) | gnomAD v4 |
| 1 | g.94418408C>T | CA524392906 | ABCD3 | c.-71C>T (n.-71C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94418409G>A | CA740556341 | ABCD3 | c.-70G>A (n.-70G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.94418409G>C | CA740556363 | ABCD3 | c.-70G>C (n.-70G>C) | dbSNP |
| 1 | g.94418409G= | CA1181573478 | ABCD3 | c.-70G= (n.-70G=) | |
| 1 | g.94418409G>T | CA26875765 | ABCD3 | c.-70G>T (n.-70G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94418410_94418411dup | CA2696518520 | ABCD3 | c.-69_-68dup (n.-69_-68dup) | dbSNP |
| 1 | g.94418410T>A | CA1004588786 | ABCD3 | c.-69T>A (n.-69T>A) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.94418410T>C | CA1181573480 | ABCD3 | c.-69T>C (n.-69T>C) | dbSNP gnomAD v4 |
| 1 | g.94418410T>G | CA26875768 | ABCD3 | c.-69T>G (n.-69T>G) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.94418410T= | CA1181573479 | ABCD3 | c.-69T= (n.-69T=) | |
| 1 | g.94418411G>A | CA2646663029 | ABCD3 | c.-68G>A (n.-68G>A) | gnomAD v4 |
| 1 | g.94418411G>T | CA2646663030 | ABCD3 | c.-68G>T (n.-68G>T) | gnomAD v4 |
| 1 | g.94418412C>A | CA1181573482 | ABCD3 | c.-67C>A (n.-67C>A) | dbSNP gnomAD v4 |
| 1 | g.94418412C= | CA1181573481 | ABCD3 | c.-67C= (n.-67C=) | |
| 1 | g.94418412C>T | CA2646663031 | ABCD3 | c.-67C>T (n.-67C>T) | dbSNP gnomAD v4 |
| 1 | g.94418413A= | CA1181573483 | ABCD3 | c.-66A= (n.-66A=) | |
| 1 | g.94418413A>C | CA1004588788 | ABCD3 | c.-66A>C (n.-66A>C) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.94418413A>G | CA524392909 | ABCD3 | c.-66A>G (n.-66A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94418413A>T | CA2646663032 | ABCD3 | c.-66A>T (n.-66A>T) | gnomAD v4 |
| 1 | g.94418414G>A | CA2646663033 | ABCD3 | c.-65G>A (n.-65G>A) | gnomAD v4 |
| 1 | g.94418414G= | CA1181573484 | ABCD3 | c.-65G= (n.-65G=) | |
| 1 | g.94418414G>T | CA1181573485 | ABCD3 | c.-65G>T (n.-65G>T) | dbSNP gnomAD v4 |
| 1 | g.94418415T>A | CA2646663034 | ABCD3 | c.-64T>A (n.-64T>A) | gnomAD v4 |
| 1 | g.94418415T>C | CA2646663035 | ABCD3 | c.-64T>C (n.-64T>C) | gnomAD v4 |
| 1 | g.94418415T>G | CA1181573486 | ABCD3 | c.-64T>G (n.-64T>G) | dbSNP gnomAD v4 |
| 1 | g.94418415T= | CA1181573487 | ABCD3 | c.-64T= (n.-64T=) | |
| 1 | g.94418416A= | CA1181573488 | ABCD3 | c.-63A= (n.-63A=) | |
| 1 | g.94418416A>C | CA2646663036 | ABCD3 | c.-63A>C (n.-63A>C) | gnomAD v4 |
| 1 | g.94418416A>G | CA26875772 | ABCD3 | c.-63A>G (n.-63A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.94418417del | CA2574439540 | ABCD3 | c.-62del (n.-62del) | gnomAD v4 |
| 1 | g.94418417A= | CA1181573489 | ABCD3 | c.-62A= (n.-62A=) | |
| 1 | g.94418417A>G | CA1181573490 | ABCD3 | c.-62A>G (n.-62A>G) | dbSNP gnomAD v4 |
| 1 | g.94418417A>T | CA2646663037 | ABCD3 | c.-62A>T (n.-62A>T) | gnomAD v4 |
| 1 | g.94418418G>A | CA1004588799 | ABCD3 | c.-61G>A (n.-61G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.94418418G= | CA1181573491 | ABCD3 | c.-61G= (n.-61G=) | |
| 1 | g.94418418G>T | CA2646663039 | ABCD3 | c.-61G>T (n.-61G>T) | gnomAD v4 |
| 1 | g.94418418_94418420dup | CA2646663038 | ABCD3 | c.-61_-59dup (n.-61_-59dup) | gnomAD v4 |
| 1 | g.94418419G>A | CA524392915 | ABCD3 | c.-60G>A (n.-60G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94418419G= | CA1181573492 | ABCD3 | c.-60G= (n.-60G=) | |
| 1 | g.94418419G>T | CA2646663041 | ABCD3 | c.-60G>T (n.-60G>T) | gnomAD v4 |
| 1 | g.94418420_94418425dup | CA2646663040 | ABCD3 | c.-59_-54dup (n.-59_-54dup) | gnomAD v4 |
| 1 | g.94418420T>G | CA2646663042 | ABCD3 | c.-59T>G (n.-59T>G) | gnomAD v4 |
| 1 | g.94418420_94418421insCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGC | CA1004588800 | ABCD3 | c.-59_-58insCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGC (n.-59_-58insCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGC) | gnomAD v3 gnomAD v4 |
| 1 | g.94418421A= | CA1181573494 | ABCD3 | c.-58A= (n.-58A=) | |
| 1 | g.94418421A>C | CA1004588801 | ABCD3 | c.-58A>C (n.-58A>C) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.94418421A>G | CA2574439543 | ABCD3 | c.-58A>G (n.-58A>G) | |
| 1 | g.94418421A>T | CA2646663043 | ABCD3 | c.-58A>T (n.-58A>T) | gnomAD v4 |
| 1 | g.94418421_94418436delinsAGCCGCCGCCGCCGCC | CA1181573493 | ABCD3 | c.-58_-43delinsAGCCGCCGCCGCCGCC (n.-58_-43delinsAGCCGCCGCCGCCGCC) | |
| 1 | g.94418422G>A | CA2646663045 | ABCD3 | c.-57G>A (n.-57G>A) | gnomAD v4 |
| 1 | g.94418422G>C | CA2646663046 | ABCD3 | c.-57G>C (n.-57G>C) | dbSNP gnomAD v4 |
| 1 | g.94418422G= | CA1181573495 | ABCD3 | c.-57G= (n.-57G=) | |
| 1 | g.94418422G>T | CA1181573496 | ABCD3 | c.-57G>T (n.-57G>T) | dbSNP gnomAD v4 |
| 1 | g.94418424_94418425insACCGCCGCC | CA2646663048 | ABCD3 | c.-55_-54insACCGCCGCC (n.-55_-54insACCGCCGCC) | gnomAD v4 |
| 1 | g.94418424_94418425insACCGCCGCCGCCGCC | CA2646663049 | ABCD3 | c.-55_-54insACCGCCGCCGCCGCC (n.-55_-54insACCGCCGCCGCCGCC) | gnomAD v4 |
| 1 | g.94418425_94418426insTCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCTGCCGCCGCCGCCGCCGCCGCCG | CA2533789729 | ABCD3 | c.-54_-53insTCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCTGCCGCCGCCGCCGCCGCCGCCG (n.-54_-53insTCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCTGCCGCCGCCGCCGCCGCCGCCG) | |
| 1 | g.94418426_94418427insGGCCGC | CA2574439566 | ABCD3 | c.-53_-52insGGCCGC (n.-53_-52insGGCCGC) | gnomAD v4 |
| 1 | g.94418426_94418427insTGCCGCCGC | CA2646663044 | ABCD3 | c.-53_-52insTGCCGCCGC (n.-53_-52insTGCCGCCGC) | gnomAD v4 |
| 1 | g.94418422_94418444delinsGCCGCCGCCGCCGCCGCCGCCGC | CA1144266998 | ABCD3 | c.-57_-35delinsGCCGCCGCCGCCGCCGCCGCCGC (n.-57_-35delinsGCCGCCGCCGCCGCCGCCGCCGC) | |
| 1 | g.94418444_94418445insCGCCGCCGCCGCCGCCGCCGCCGC | CA1004588890 | ABCD3 | c.-35_-34insCGCCGCCGCCGCCGCCGCCGCCGC (n.-35_-34insCGCCGCCGCCGCCGCCGCCGCCGC) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.94418444_94418445insCGCCGCCGCCGCCGCCGCCGCCGCCGC | CA740556430 | ABCD3 | c.-35_-34insCGCCGCCGCCGCCGCCGCCGCCGCCGC (n.-35_-34insCGCCGCCGCCGCCGCCGCCGCCGCCGC) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.94418444_94418445insCGCCGCCGCCGCCGCCGCCGCCGCCGCCGC | CA2646663047 | ABCD3 | c.-35_-34insCGCCGCCGCCGCCGCCGCCGCCGCCGCCGC (n.-35_-34insCGCCGCCGCCGCCGCCGCCGCCGCCGCCGC) | gnomAD v4 |
| 1 | g.94418444_94418445insCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGC | CA1004588864 | ABCD3 | c.-35_-34insCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGC (n.-35_-34insCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGC) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.94418444_94418445insCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGC | CA1004588874 | ABCD3 | c.-35_-34insCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGC (n.-35_-34insCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGC) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.94418444_94418445insCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGC | CA1004588875 | ABCD3 | c.-35_-34insCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGC (n.-35_-34insCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGC) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.94418444_94418445insCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGC | CA1004588877 | ABCD3 | c.-35_-34insCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGC (n.-35_-34insCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGC) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.94418444_94418445insCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGC | CA1004588856 | ABCD3 | c.-35_-34insCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGC (n.-35_-34insCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGC) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.94418444_94418445insCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGC | CA1004588885 | ABCD3 | c.-35_-34insCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGC (n.-35_-34insCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGC) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.94418444_94418445insCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGC | CA1004588826 | ABCD3 | c.-35_-34insCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGC (n.-35_-34insCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGC) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.94418444_94418445insCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGC | CA1004588830 | ABCD3 | c.-35_-34insCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGC (n.-35_-34insCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGC) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.94418444_94418445insCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGC | CA1004588832 | ABCD3 | c.-35_-34insCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGC (n.-35_-34insCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGC) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.94418444_94418445insCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGC | CA1004588829 | ABCD3 | c.-35_-34insCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGC (n.-35_-34insCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGC) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.94418444_94418445insCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGC | CA1004588833 | ABCD3 | c.-35_-34insCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGC (n.-35_-34insCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGC) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.94418444_94418445insCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGC | CA1004588834 | ABCD3 | c.-35_-34insCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGC (n.-35_-34insCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGC) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.94418444_94418445insCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGC | CA1004588836 | ABCD3 | c.-35_-34insCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGC (n.-35_-34insCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGC) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.94418444_94418445insCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGC | CA1004588841 | ABCD3 | c.-35_-34insCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGC (n.-35_-34insCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGC) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.94418444_94418445insCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGC | CA1004588844 | ABCD3 | c.-35_-34insCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGC (n.-35_-34insCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGC) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.94418444_94418445insCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGC | CA2844752901 | ABCD3 | c.-35_-34insCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGC (n.-35_-34insCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGC) | |
| 1 | g.94418444_94418445insCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGC | CA2744628703 | ABCD3 | c.-35_-34insCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGC (n.-35_-34insCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGC) | |
| 1 | g.94418444_94418445insCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCGCCGCCGCCGCCGCCGCCGCCGC | CA1139559860 | ABCD3 | c.-35_-34insCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCGCCGCCGCCGCCGCCGCCGCCGC (n.-35_-34insCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCGCCGCCGCCGCCGCCGCCGCCGC) | |
| 1 | g.94418442_94418444dup | CA26875777 | ABCD3 | c.-37_-35dup (n.-37_-35dup) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94418439_94418444dup | CA418833207 | ABCD3 | c.-40_-35dup (n.-40_-35dup) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94418436_94418444dup | CA524392927 | ABCD3 | c.-43_-35dup (n.-43_-35dup) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94418433_94418444dup | CA418833220 | ABCD3 | c.-46_-35dup (n.-46_-35dup) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94418430_94418444dup | CA524392920 | ABCD3 | c.-49_-35dup (n.-49_-35dup) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94418427_94418444dup | CA740556431 | ABCD3 | c.-52_-35dup (n.-52_-35dup) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.94418424_94418444dup | CA740556393 | ABCD3 | c.-55_-35dup (n.-55_-35dup) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.94418442_94418444del | CA26875778 | ABCD3 | c.-37_-35del (n.-37_-35del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.94418439_94418444del | CA26875781 | ABCD3 | c.-40_-35del (n.-40_-35del) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.94418436_94418444del | CA26875779 | ABCD3 | c.-43_-35del (n.-43_-35del) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.94418433_94418444del | CA740556427 | ABCD3 | c.-46_-35del (n.-46_-35del) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.94418430_94418444del | CA1004588855 | ABCD3 | c.-49_-35del (n.-49_-35del) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.94418423C>A | CA2646663050 | ABCD3 | c.-56C>A (n.-56C>A) | gnomAD v4 |
| 1 | g.94418423C= | CA1181573497 | ABCD3 | c.-56C= (n.-56C=) | |
| 1 | g.94418423C>G | CA1004588903 | ABCD3 | c.-56C>G (n.-56C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.94418423C>T | CA2646663051 | ABCD3 | c.-56C>T (n.-56C>T) | gnomAD v4 |
| 1 | g.94418423_94418424insGCC | CA916237846 | ABCD3 | c.-56_-55insGCC (n.-56_-55insGCC) | dbSNP |
| 1 | g.94418423_94418424insGCCGCC | CA916237847 | ABCD3 | c.-56_-55insGCCGCC (n.-56_-55insGCCGCC) | dbSNP |
| 1 | g.94418423_94418424insGCCGCCGCC | CA916237848 | ABCD3 | c.-56_-55insGCCGCCGCC (n.-56_-55insGCCGCCGCC) | dbSNP |
| 1 | g.94418423_94418424insGCCGCCGCCGCCGCC | CA916237850 | ABCD3 | c.-56_-55insGCCGCCGCCGCCGCC (n.-56_-55insGCCGCCGCCGCCGCC) | dbSNP |
| 1 | g.94418433_94418434insTCCGCCGCCGCC | CA2696518531 | ABCD3 | c.-46_-45insTCCGCCGCCGCC (n.-46_-45insTCCGCCGCCGCC) | dbSNP |
| 1 | g.94418424C>A | CA2574439569 | ABCD3 | c.-55C>A (n.-55C>A) | gnomAD v4 |
| 1 | g.94418424C= | CA1181573498 | ABCD3 | c.-55C= (n.-55C=) | |
| 1 | g.94418424C>G | CA1181573499 | ABCD3 | c.-55C>G (n.-55C>G) | dbSNP |
| 1 | g.94418424C>T | CA2574439570 | ABCD3 | c.-55C>T (n.-55C>T) | gnomAD v4 |
| 1 | g.94418425G>A | CA2574439571 | ABCD3 | c.-54G>A (n.-54G>A) | gnomAD v4 |
| 1 | g.94418425G>C | CA2696518549 | ABCD3 | c.-54G>C (n.-54G>C) | dbSNP |
| 1 | g.94418425G>T | CA2646663052 | ABCD3 | c.-54G>T (n.-54G>T) | gnomAD v4 |
| 1 | g.94418425_94418426insTAG | CA1181573500 | ABCD3 | c.-54_-53insTAG (n.-54_-53insTAG) | dbSNP gnomAD v4 |
| 1 | g.94418426C>A | CA2646663053 | ABCD3 | c.-53C>A (n.-53C>A) | gnomAD v4 |
| 1 | g.94418426C= | CA1146364755 | ABCD3 | c.-53C= (n.-53C=) | |
| 1 | g.94418426C>G | CA524392929 | ABCD3 | c.-53C>G (n.-53C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94418426C>T | CA26875784 | ABCD3 | c.-53C>T (n.-53C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.94418427C>A | CA524392930 | ABCD3 | c.-52C>A (n.-52C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94418427C= | CA1181573501 | ABCD3 | c.-52C= (n.-52C=) | |
| 1 | g.94418427C>T | CA26875788 | ABCD3 | c.-52C>T (n.-52C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.94418428G>A | CA2574439573 | ABCD3 | c.-51G>A (n.-51G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.94418428G>C | CA2696518605 | ABCD3 | c.-51G>C (n.-51G>C) | dbSNP |
| 1 | g.94418428G= | CA1181573502 | ABCD3 | c.-51G= (n.-51G=) | |
| 1 | g.94418428G>T | CA2646663054 | ABCD3 | c.-51G>T (n.-51G>T) | gnomAD v4 |
| 1 | g.94418429C>A | CA2646663055 | ABCD3 | c.-50C>A (n.-50C>A) | gnomAD v4 |
| 1 | g.94418430dup | CA524392932 | ABCD3 | c.-49dup (n.-49dup) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.94418430C>A | CA2646663057 | ABCD3 | c.-49C>A (n.-49C>A) | gnomAD v4 |
| 1 | g.94418430C= | CA1181573503 | ABCD3 | c.-49C= (n.-49C=) | |
| 1 | g.94418430C>G | CA2646663058 | ABCD3 | c.-49C>G (n.-49C>G) | gnomAD v4 |
| 1 | g.94418430C>T | CA1004588911 | ABCD3 | c.-49C>T (n.-49C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.94418431_94418432del | CA2646663056 | ABCD3 | c.-48_-47del (n.-48_-47del) | gnomAD v4 |
| 1 | g.94418431G>A | CA959945 | ABCD3 | c.-48G>A (n.-48G>A) | dbSNP ExAC gnomAD v4 |
| 1 | g.94418431G= | CA1181573504 | ABCD3 | c.-48G= (n.-48G=) | |
| 1 | g.94418431G>T | CA524392934 | ABCD3 | c.-48G>T (n.-48G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.94418432C>A | CA2646663059 | ABCD3 | c.-47C>A (n.-47C>A) | gnomAD v4 |
| 1 | g.94418432C= | CA1181573505 | ABCD3 | c.-47C= (n.-47C=) | |
| 1 | g.94418432C>T | CA1181573506 | ABCD3 | c.-47C>T (n.-47C>T) | dbSNP gnomAD v4 |
| 1 | g.94418436_94418437insTCCGCC | CA2696518652 | ABCD3 | c.-43_-42insTCCGCC (n.-43_-42insTCCGCC) | dbSNP |
| 1 | g.94418433C>A | CA2646663060 | ABCD3 | c.-46C>A (n.-46C>A) | gnomAD v4 |
| 1 | g.94418433C= | CA1181573508 | ABCD3 | c.-46C= (n.-46C=) | |
| 1 | g.94418433C>T | CA26875799 | ABCD3 | c.-46C>T (n.-46C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94418444_94418445insCGTCGCCGCCGCCGC | CA1181573507 | ABCD3 | c.-35_-34insCGTCGCCGCCGCCGC (n.-35_-34insCGTCGCCGCCGCCGC) | dbSNP gnomAD v4 |
| 1 | g.94418434G>A | CA959946 | ABCD3 | c.-45G>A (n.-45G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.94418434G= | CA1181573509 | ABCD3 | c.-45G= (n.-45G=) | |
| 1 | g.94418434G>T | CA2646663061 | ABCD3 | c.-45G>T (n.-45G>T) | gnomAD v4 |