OUTAGE/INTERRUPTION NOTICE:2024-06-14T21:00:00-0400 — 2024-06-17T08:00:00-0400
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.19110690C>A | CA506060130 | SLC25A42 | c.771C>A (p.Ala257=) c.963C>A (p.Ala321=) | gnomAD v4 |
| 19 | g.19110690C>G | CA506060128 | SLC25A42 | c.771C>G (p.Ala257=) c.963C>G (p.Ala321=) | |
| 19 | g.19110690C>T | CA506060129 | SLC25A42 | c.771C>T (p.Ala257=) c.963C>T (p.Ala321=) | |
| 19 | g.19110691G>A | CA404897943 | SLC25A42 | c.772G>A (p.Gly258Ser) c.964G>A (p.Gly322Ser) | gnomAD v4 |
| 19 | g.19110691G>C | CA404897944 | SLC25A42 | c.772G>C (p.Gly258Arg) c.964G>C (p.Gly322Arg) | |
| 19 | g.19110691G>T | CA404897942 | SLC25A42 | c.772G>T (p.Gly258Cys) c.964G>T (p.Gly322Cys) | |
| 19 | g.19110692G>A | CA404897946 | SLC25A42 | c.773G>A (p.Gly258Asp) c.965G>A (p.Gly322Asp) | gnomAD v4 |
| 19 | g.19110692G>C | CA404897945 | SLC25A42 | c.773G>C (p.Gly258Ala) c.965G>C (p.Gly322Ala) | |
| 19 | g.19110692G>T | CA404897947 | SLC25A42 | c.773G>T (p.Gly258Val) c.965G>T (p.Gly322Val) | |
| 19 | g.19110693C>A | CA506060134 | SLC25A42 | c.774C>A (p.Gly258=) c.966C>A (p.Gly322=) | |
| 19 | g.19110693C>G | CA506060135 | SLC25A42 | c.774C>G (p.Gly258=) c.966C>G (p.Gly322=) | |
| 19 | g.19110693C>T | CA506060136 | SLC25A42 | c.774C>T (p.Gly258=) c.966C>T (p.Gly322=) | |
| 19 | g.19110694G>A | CA404897948 | SLC25A42 | c.775G>A (p.Val259Ile) c.967G>A (p.Val323Ile) | gnomAD v4 |
| 19 | g.19110694G>C | CA404897949 | SLC25A42 | c.775G>C (p.Val259Leu) c.967G>C (p.Val323Leu) | |
| 19 | g.19110694G>T | CA404897950 | SLC25A42 | c.775G>T (p.Val259Phe) c.967G>T (p.Val323Phe) | |
| 19 | g.19110695T>A | CA404897951 | SLC25A42 | c.776T>A (p.Val259Asp) c.968T>A (p.Val323Asp) | |
| 19 | g.19110695T>C | CA404897952 | SLC25A42 | c.776T>C (p.Val259Ala) c.968T>C (p.Val323Ala) | |
| 19 | g.19110695T>G | CA404897953 | SLC25A42 | c.776T>G (p.Val259Gly) c.968T>G (p.Val323Gly) | |
| 19 | g.19110696C>A | CA506060138 | SLC25A42 | c.777C>A (p.Val259=) c.969C>A (p.Val323=) | |
| 19 | g.19110696C>G | CA506060139 | SLC25A42 | c.777C>G (p.Val259=) c.969C>G (p.Val323=) | |
| 19 | g.19110696C>T | CA506060140 | SLC25A42 | c.777C>T (p.Val259=) c.969C>T (p.Val323=) | |
| 19 | g.19110697A>C | CA404897954 | SLC25A42 | c.778A>C (p.Thr260Pro) c.970A>C (p.Thr324Pro) | |
| 19 | g.19110697A>G | CA404897955 | SLC25A42 | c.778A>G (p.Thr260Ala) c.970A>G (p.Thr324Ala) | |
| 19 | g.19110697A>T | CA404897956 | SLC25A42 | c.778A>T (p.Thr260Ser) c.970A>T (p.Thr324Ser) | |
| 19 | g.19110698C>A | CA404897957 | SLC25A42 | c.779C>A (p.Thr260Lys) c.971C>A (p.Thr324Lys) | |
| 19 | g.19110698C>G | CA404897958 | SLC25A42 | c.779C>G (p.Thr260Arg) c.971C>G (p.Thr324Arg) | |
| 19 | g.19110698C>T | CA404897959 | SLC25A42 | c.779C>T (p.Thr260Met) c.971C>T (p.Thr324Met) | gnomAD v4 |
| 19 | g.19110699G>A | CA306290757 | SLC25A42 | c.780G>A (p.Thr260=) c.972G>A (p.Thr324=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.19110699G>C | CA506060142 | SLC25A42 | c.780G>C (p.Thr260=) c.972G>C (p.Thr324=) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.19110699G= | CA2326684779 | SLC25A42 | c.780G= (p.Thr260=) c.972G= (p.Thr324=) | |
| 19 | g.19110699G>T | CA506060144 | SLC25A42 | c.780G>T (p.Thr260=) c.972G>T (p.Thr324=) | |
| 19 | g.19110700G>A | CA9321572 | SLC25A42 | c.781G>A (p.Gly261Ser) c.973G>A (p.Gly325Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.19110700G>C | CA404897960 | SLC25A42 | c.781G>C (p.Gly261Arg) c.973G>C (p.Gly325Arg) | dbSNP |
| 19 | g.19110700G= | CA2326684780 | SLC25A42 | c.781G= (p.Gly261=) c.973G= (p.Gly325=) | |
| 19 | g.19110700G>T | CA404897961 | SLC25A42 | c.781G>T (p.Gly261Cys) c.973G>T (p.Gly325Cys) | dbSNP |
| 19 | g.19110701G>A | CA404897962 | SLC25A42 | c.782G>A (p.Gly261Asp) c.974G>A (p.Gly325Asp) | gnomAD v4 |
| 19 | g.19110701G>C | CA404897963 | SLC25A42 | c.782G>C (p.Gly261Ala) c.974G>C (p.Gly325Ala) | |
| 19 | g.19110701G>T | CA404897964 | SLC25A42 | c.782G>T (p.Gly261Val) c.974G>T (p.Gly325Val) | |
| 19 | g.19110702C>A | CA506060146 | SLC25A42 | c.783C>A (p.Gly261=) c.975C>A (p.Gly325=) | |
| 19 | g.19110702C>G | CA506060147 | SLC25A42 | c.783C>G (p.Gly261=) c.975C>G (p.Gly325=) | |
| 19 | g.19110702C>T | CA506060148 | SLC25A42 | c.783C>T (p.Gly261=) c.975C>T (p.Gly325=) | gnomAD v4 |
| 19 | g.19110703T>A | CA306290761 | SLC25A42 | c.784T>A (p.Tyr262Asn) c.976T>A (p.Tyr326Asn) | dbSNP gnomAD v4 |
| 19 | g.19110703T>C | CA404897965 | SLC25A42 | c.784T>C (p.Tyr262His) c.976T>C (p.Tyr326His) | gnomAD v4 |
| 19 | g.19110703T>G | CA404897966 | SLC25A42 | c.784T>G (p.Tyr262Asp) c.976T>G (p.Tyr326Asp) | |
| 19 | g.19110703T= | CA2326684781 | SLC25A42 | c.784T= (p.Tyr262=) c.976T= (p.Tyr326=) | |
| 19 | g.19110704A>C | CA404897967 | SLC25A42 | c.785A>C (p.Tyr262Ser) c.977A>C (p.Tyr326Ser) | |
| 19 | g.19110704A>G | CA404897968 | SLC25A42 | c.785A>G (p.Tyr262Cys) c.977A>G (p.Tyr326Cys) | |
| 19 | g.19110704A>T | CA404897969 | SLC25A42 | c.785A>T (p.Tyr262Phe) c.977A>T (p.Tyr326Phe) | |
| 19 | g.19110705C>A | CA404897970 | SLC25A42 | c.786C>A (p.Tyr262Ter) c.978C>A (p.Tyr326Ter) | |
| 19 | g.19110705C>G | CA404897971 | SLC25A42 | c.786C>G (p.Tyr262Ter) c.978C>G (p.Tyr326Ter) | |
| 19 | g.19110705C>T | CA506060213 | SLC25A42 | c.786C>T (p.Tyr262=) c.978C>T (p.Tyr326=) | |
| 19 | g.19110706C>A | CA404897974 | SLC25A42 | c.787C>A (p.Pro263Thr) c.979C>A (p.Pro327Thr) | |
| 19 | g.19110706C>G | CA404897973 | SLC25A42 | c.787C>G (p.Pro263Ala) c.979C>G (p.Pro327Ala) | gnomAD v4 |
| 19 | g.19110706C>T | CA404897972 | SLC25A42 | c.787C>T (p.Pro263Ser) c.979C>T (p.Pro327Ser) | |
| 19 | g.19110707C>A | CA404897975 | SLC25A42 | c.788C>A (p.Pro263Gln) c.980C>A (p.Pro327Gln) | |
| 19 | g.19110707C= | CA2326684782 | SLC25A42 | c.788C= (p.Pro263=) c.980C= (p.Pro327=) | |
| 19 | g.19110707C>G | CA404897976 | SLC25A42 | c.788C>G (p.Pro263Arg) c.980C>G (p.Pro327Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.19110707C>T | CA404897977 | SLC25A42 | c.788C>T (p.Pro263Leu) c.980C>T (p.Pro327Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.19110708G>A | CA506060214 | SLC25A42 | c.789G>A (p.Pro263=) c.981G>A (p.Pro327=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.19110708G>C | CA506060215 | SLC25A42 | c.789G>C (p.Pro263=) c.981G>C (p.Pro327=) | |
| 19 | g.19110708G= | CA2326684783 | SLC25A42 | c.789G= (p.Pro263=) c.981G= (p.Pro327=) | |
| 19 | g.19110708G>T | CA506060216 | SLC25A42 | c.789G>T (p.Pro263=) c.981G>T (p.Pro327=) | |
| 19 | g.19110709C>A | CA404897978 | SLC25A42 | c.790C>A (p.Arg264Ser) c.982C>A (p.Arg328Ser) | |
| 19 | g.19110709C>G | CA404897979 | SLC25A42 | c.790C>G (p.Arg264Gly) c.982C>G (p.Arg328Gly) | |
| 19 | g.19110709C>T | CA404897980 | SLC25A42 | c.790C>T (p.Arg264Cys) c.982C>T (p.Arg328Cys) | gnomAD v4 |
| 19 | g.19110710G>A | CA404897981 | SLC25A42 | c.791G>A (p.Arg264His) c.983G>A (p.Arg328His) | dbSNP gnomAD v4 |
| 19 | g.19110710G>C | CA404897982 | SLC25A42 | c.791G>C (p.Arg264Pro) c.983G>C (p.Arg328Pro) | |
| 19 | g.19110710G= | CA2326684784 | SLC25A42 | c.791G= (p.Arg264=) c.983G= (p.Arg328=) | |
| 19 | g.19110710G>T | CA404897983 | SLC25A42 | c.791G>T (p.Arg264Leu) c.983G>T (p.Arg328Leu) | |
| 19 | g.19110711C>A | CA506060218 | SLC25A42 | c.792C>A (p.Arg264=) c.984C>A (p.Arg328=) | |
| 19 | g.19110711C= | CA2326684785 | SLC25A42 | c.792C= (p.Arg264=) c.984C= (p.Arg328=) | |
| 19 | g.19110711C>G | CA506060217 | SLC25A42 | c.792C>G (p.Arg264=) c.984C>G (p.Arg328=) | gnomAD v4 |
| 19 | g.19110711C>T | CA9321573 | SLC25A42 | c.792C>T (p.Arg264=) c.984C>T (p.Arg328=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.19110714_19110730dup | CA2813857968 | SLC25A42 | c.795_811dup (p.Leu271ProfsTer24) c.987_1003dup (p.Leu335ProfsTer24) | |
| 19 | g.19110712G>A | CA9321574 | SLC25A42 | c.793G>A (p.Ala265Thr) c.985G>A (p.Ala329Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.19110712G>C | CA404897984 | SLC25A42 | c.793G>C (p.Ala265Pro) c.985G>C (p.Ala329Pro) | |
| 19 | g.19110712G= | CA2326684786 | SLC25A42 | c.793G= (p.Ala265=) c.985G= (p.Ala329=) | |
| 19 | g.19110712G>T | CA404897985 | SLC25A42 | c.793G>T (p.Ala265Ser) c.985G>T (p.Ala329Ser) | |
| 19 | g.19110712_19110713delinsGC | CA2326684787 | SLC25A42 | c.793_794delinsGC (p.Ala265=) c.985_986delinsGC (p.Ala329=) | |
| 19 | g.19110713C>A | CA404897988 | SLC25A42 | c.794C>A (p.Ala265Asp) c.986C>A (p.Ala329Asp) | |
| 19 | g.19110713C= | CA2326684788 | SLC25A42 | c.794C= (p.Ala265=) c.986C= (p.Ala329=) | |
| 19 | g.19110713C>G | CA404897986 | SLC25A42 | c.794C>G (p.Ala265Gly) c.986C>G (p.Ala329Gly) | |
| 19 | g.19110713C>T | CA404897987 | SLC25A42 | c.794C>T (p.Ala265Val) c.986C>T (p.Ala329Val) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.19110714del | CA632627726 | SLC25A42 | c.795del (p.Ser266ProfsTer23) c.987del (p.Ser330ProfsTer23) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.19110714C>A | CA506060219 | SLC25A42 | c.795C>A (p.Ala265=) c.987C>A (p.Ala329=) | |
| 19 | g.19110714C= | CA2326684789 | SLC25A42 | c.795C= (p.Ala265=) c.987C= (p.Ala329=) | |
| 19 | g.19110714C>G | CA506060220 | SLC25A42 | c.795C>G (p.Ala265=) c.987C>G (p.Ala329=) | gnomAD v4 |
| 19 | g.19110714C>T | CA9321575 | SLC25A42 | c.795C>T (p.Ala265=) c.987C>T (p.Ala329=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.19110715T>A | CA404897989 | SLC25A42 | c.796T>A (p.Ser266Thr) c.988T>A (p.Ser330Thr) | |
| 19 | g.19110715T>C | CA404897990 | SLC25A42 | c.796T>C (p.Ser266Pro) c.988T>C (p.Ser330Pro) | |
| 19 | g.19110715T>G | CA404897991 | SLC25A42 | c.796T>G (p.Ser266Ala) c.988T>G (p.Ser330Ala) | |
| 19 | g.19110716C>A | CA404897992 | SLC25A42 | c.797C>A (p.Ser266Tyr) c.989C>A (p.Ser330Tyr) | |
| 19 | g.19110716C>G | CA404897993 | SLC25A42 | c.797C>G (p.Ser266Cys) c.989C>G (p.Ser330Cys) | |
| 19 | g.19110716C>T | CA404897994 | SLC25A42 | c.797C>T (p.Ser266Phe) c.989C>T (p.Ser330Phe) | |
| 19 | g.19110717C>A | CA506060221 | SLC25A42 | c.798C>A (p.Ser266=) c.990C>A (p.Ser330=) | |
| 19 | g.19110717C= | CA2326684790 | SLC25A42 | c.798C= (p.Ser266=) c.990C= (p.Ser330=) | |
| 19 | g.19110717C>G | CA506060222 | SLC25A42 | c.798C>G (p.Ser266=) c.990C>G (p.Ser330=) | |
| 19 | g.19110717C>T | CA306290770 | SLC25A42 | c.798C>T (p.Ser266=) c.990C>T (p.Ser330=) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.19110718A= | CA2326684791 | SLC25A42 | c.799A= (p.Ile267=) c.991A= (p.Ile331=) | |
| 19 | g.19110718A>C | CA404897995 | SLC25A42 | c.799A>C (p.Ile267Leu) c.991A>C (p.Ile331Leu) | |
| 19 | g.19110718A>G | CA404897996 | SLC25A42 | c.799A>G (p.Ile267Val) c.991A>G (p.Ile331Val) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.19110718A>T | CA404897997 | SLC25A42 | c.799A>T (p.Ile267Phe) c.991A>T (p.Ile331Phe) | |
| 19 | g.19110719T>A | CA404897998 | SLC25A42 | c.800T>A (p.Ile267Asn) c.992T>A (p.Ile331Asn) | |
| 19 | g.19110719T>C | CA404897999 | SLC25A42 | c.800T>C (p.Ile267Thr) c.992T>C (p.Ile331Thr) | |
| 19 | g.19110719T>G | CA404898000 | SLC25A42 | c.800T>G (p.Ile267Ser) c.992T>G (p.Ile331Ser) | |
| 19 | g.19110720C>A | CA506060223 | SLC25A42 | c.801C>A (p.Ile267=) c.993C>A (p.Ile331=) | |
| 19 | g.19110720C= | CA2326684792 | SLC25A42 | c.801C= (p.Ile267=) c.993C= (p.Ile331=) | |
| 19 | g.19110720C>G | CA404898001 | SLC25A42 | c.801C>G (p.Ile267Met) c.993C>G (p.Ile331Met) | |
| 19 | g.19110720C>T | CA506060224 | SLC25A42 | c.801C>T (p.Ile267=) c.993C>T (p.Ile331=) | ClinVar dbSNP gnomAD v4 |
| 19 | g.19110721G>A | CA404898003 | SLC25A42 | c.802G>A (p.Ala268Thr) c.994G>A (p.Ala332Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.19110721G>C | CA404898002 | SLC25A42 | c.802G>C (p.Ala268Pro) c.994G>C (p.Ala332Pro) | |
| 19 | g.19110721G= | CA2326684793 | SLC25A42 | c.802G= (p.Ala268=) c.994G= (p.Ala332=) | |
| 19 | g.19110721G>T | CA9321576 | SLC25A42 | c.802G>T (p.Ala268Ser) c.994G>T (p.Ala332Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.19110722C>A | CA404898004 | SLC25A42 | c.803C>A (p.Ala268Asp) c.995C>A (p.Ala332Asp) | |
| 19 | g.19110722C= | CA2326684794 | SLC25A42 | c.803C= (p.Ala268=) c.995C= (p.Ala332=) | |
| 19 | g.19110722C>G | CA404898005 | SLC25A42 | c.803C>G (p.Ala268Gly) c.995C>G (p.Ala332Gly) | |
| 19 | g.19110722C>T | CA404898006 | SLC25A42 | c.803C>T (p.Ala268Val) c.995C>T (p.Ala332Val) | dbSNP gnomAD v4 |
| 19 | g.19110723C>A | CA506060226 | SLC25A42 | c.804C>A (p.Ala268=) c.996C>A (p.Ala332=) | |
| 19 | g.19110723C= | CA2326684795 | SLC25A42 | c.804C= (p.Ala268=) c.996C= (p.Ala332=) | |
| 19 | g.19110723C>G | CA506060227 | SLC25A42 | c.804C>G (p.Ala268=) c.996C>G (p.Ala332=) | dbSNP |
| 19 | g.19110723C>T | CA506060228 | SLC25A42 | c.804C>T (p.Ala268=) c.996C>T (p.Ala332=) | gnomAD v4 |
| 19 | g.19110724C>A | CA404898007 | SLC25A42 | c.805C>A (p.Arg269Ser) c.997C>A (p.Arg333Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.19110724C= | CA2326684796 | SLC25A42 | c.805C= (p.Arg269=) c.997C= (p.Arg333=) | |
| 19 | g.19110724C>G | CA404898008 | SLC25A42 | c.805C>G (p.Arg269Gly) c.997C>G (p.Arg333Gly) | gnomAD v4 |
| 19 | g.19110724C>T | CA9321577 | SLC25A42 | c.805C>T (p.Arg269Cys) c.997C>T (p.Arg333Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.19110725G>A | CA306290775 | SLC25A42 | c.806G>A (p.Arg269His) c.998G>A (p.Arg333His) | dbSNP gnomAD v2 |
| 19 | g.19110725G>C | CA404898009 | SLC25A42 | c.806G>C (p.Arg269Pro) c.998G>C (p.Arg333Pro) | |
| 19 | g.19110725G= | CA2326684797 | SLC25A42 | c.806G= (p.Arg269=) c.998G= (p.Arg333=) | |
| 19 | g.19110725G>T | CA404898010 | SLC25A42 | c.806G>T (p.Arg269Leu) c.998G>T (p.Arg333Leu) | |
| 19 | g.19110726C>A | CA506060229 | SLC25A42 | c.807C>A (p.Arg269=) c.999C>A (p.Arg333=) | |
| 19 | g.19110726C>G | CA506060230 | SLC25A42 | c.807C>G (p.Arg269=) c.999C>G (p.Arg333=) | |
| 19 | g.19110726C>T | CA506060231 | SLC25A42 | c.807C>T (p.Arg269=) c.999C>T (p.Arg333=) | |
| 19 | g.19110727A= | CA2326684798 | SLC25A42 | c.808A= (p.Thr270=) c.1000A= (p.Thr334=) | |
| 19 | g.19110727A>C | CA404898011 | SLC25A42 | c.808A>C (p.Thr270Pro) c.1000A>C (p.Thr334Pro) | |
| 19 | g.19110727A>G | CA404898012 | SLC25A42 | c.808A>G (p.Thr270Ala) c.1000A>G (p.Thr334Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.19110727A>T | CA404898013 | SLC25A42 | c.808A>T (p.Thr270Ser) c.1000A>T (p.Thr334Ser) | |
| 19 | g.19110728C>A | CA306290780 | SLC25A42 | c.809C>A (p.Thr270Lys) c.1001C>A (p.Thr334Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.19110728C= | CA2326684799 | SLC25A42 | c.809C= (p.Thr270=) c.1001C= (p.Thr334=) | |
| 19 | g.19110728C>G | CA404898014 | SLC25A42 | c.809C>G (p.Thr270Arg) c.1001C>G (p.Thr334Arg) | |
| 19 | g.19110728C>T | CA404898015 | SLC25A42 | c.809C>T (p.Thr270Met) c.1001C>T (p.Thr334Met) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.19110729G>A | CA506060232 | SLC25A42 | c.810G>A (p.Thr270=) c.1002G>A (p.Thr334=) | |
| 19 | g.19110729G>C | CA506060233 | SLC25A42 | c.810G>C (p.Thr270=) c.1002G>C (p.Thr334=) | |
| 19 | g.19110729G>T | CA506060234 | SLC25A42 | c.810G>T (p.Thr270=) c.1002G>T (p.Thr334=) | |
| 19 | g.19110730C>A | CA404898016 | SLC25A42 | c.811C>A (p.Leu271Met) c.1003C>A (p.Leu335Met) | |
| 19 | g.19110730C>G | CA404898017 | SLC25A42 | c.811C>G (p.Leu271Val) c.1003C>G (p.Leu335Val) | gnomAD v4 |
| 19 | g.19110730C>T | CA506060235 | SLC25A42 | c.811C>T (p.Leu271=) c.1003C>T (p.Leu335=) | |
| 19 | g.19110731T>A | CA404898018 | SLC25A42 | c.812T>A (p.Leu271Gln) c.1004T>A (p.Leu335Gln) | |
| 19 | g.19110731T>C | CA404898019 | SLC25A42 | c.812T>C (p.Leu271Pro) c.1004T>C (p.Leu335Pro) | |
| 19 | g.19110731T>G | CA404898020 | SLC25A42 | c.812T>G (p.Leu271Arg) c.1004T>G (p.Leu335Arg) | |
| 19 | g.19110732G>A | CA506060237 | SLC25A42 | c.813G>A (p.Leu271=) c.1005G>A (p.Leu335=) | dbSNP |
| 19 | g.19110732G>C | CA506060239 | SLC25A42 | c.813G>C (p.Leu271=) c.1005G>C (p.Leu335=) | |
| 19 | g.19110732G= | CA2326684800 | SLC25A42 | c.813G= (p.Leu271=) c.1005G= (p.Leu335=) | |
| 19 | g.19110732G>T | CA506060236 | SLC25A42 | c.813G>T (p.Leu271=) c.1005G>T (p.Leu335=) | |
| 19 | g.19110733C>A | CA404898021 | SLC25A42 | c.814C>A (p.Arg272Ser) c.1006C>A (p.Arg336Ser) | gnomAD v4 |
| 19 | g.19110733C= | CA2326684801 | SLC25A42 | c.814C= (p.Arg272=) c.1006C= (p.Arg336=) | |
| 19 | g.19110733C>G | CA404898022 | SLC25A42 | c.814C>G (p.Arg272Gly) c.1006C>G (p.Arg336Gly) | ClinVar |
| 19 | g.19110733C>T | CA404898023 | SLC25A42 | c.814C>T (p.Arg272Cys) c.1006C>T (p.Arg336Cys) | dbSNP gnomAD v4 |
| 19 | g.19110734G>A | CA404898024 | SLC25A42 | c.815G>A (p.Arg272His) c.1007G>A (p.Arg336His) | gnomAD v4 |
| 19 | g.19110734G>C | CA404898025 | SLC25A42 | c.815G>C (p.Arg272Pro) c.1007G>C (p.Arg336Pro) | gnomAD v4 |
| 19 | g.19110734G>T | CA404898026 | SLC25A42 | c.815G>T (p.Arg272Leu) c.1007G>T (p.Arg336Leu) | ClinVar |
| 19 | g.19110735C>A | CA506060240 | SLC25A42 | c.816C>A (p.Arg272=) c.1008C>A (p.Arg336=) | |
| 19 | g.19110735C= | CA2326684802 | SLC25A42 | c.816C= (p.Arg272=) c.1008C= (p.Arg336=) | |
| 19 | g.19110735C>G | CA506060241 | SLC25A42 | c.816C>G (p.Arg272=) c.1008C>G (p.Arg336=) | |
| 19 | g.19110735C>T | CA506060242 | SLC25A42 | c.816C>T (p.Arg272=) c.1008C>T (p.Arg336=) | dbSNP |
| 19 | g.19110736A>C | CA404898028 | SLC25A42 | c.817A>C (p.Thr273Pro) c.1009A>C (p.Thr337Pro) | |
| 19 | g.19110736A>G | CA404898029 | SLC25A42 | c.817A>G (p.Thr273Ala) c.1009A>G (p.Thr337Ala) | |
| 19 | g.19110736A>T | CA404898027 | SLC25A42 | c.817A>T (p.Thr273Ser) c.1009A>T (p.Thr337Ser) | gnomAD v4 |
| 19 | g.19110737C>A | CA404898030 | SLC25A42 | c.818C>A (p.Thr273Asn) c.1010C>A (p.Thr337Asn) | |
| 19 | g.19110737C>G | CA404898031 | SLC25A42 | c.818C>G (p.Thr273Ser) c.1010C>G (p.Thr337Ser) | |
| 19 | g.19110737C>T | CA404898032 | SLC25A42 | c.818C>T (p.Thr273Ile) c.1010C>T (p.Thr337Ile) | gnomAD v4 |
| 19 | g.19110738C>A | CA506060245 | SLC25A42 | c.819C>A (p.Thr273=) c.1011C>A (p.Thr337=) | |
| 19 | g.19110738C>G | CA506060243 | SLC25A42 | c.819C>G (p.Thr273=) c.1011C>G (p.Thr337=) | |
| 19 | g.19110738C>T | CA506060244 | SLC25A42 | c.819C>T (p.Thr273=) c.1011C>T (p.Thr337=) | |
| 19 | g.19110738_19110739insCTCCTGCCGCCGCTCGCGCGCGAAGACAGACAGAATAACGCGCCGCGCATCACGGACCTCCTGCGCGCCGCCACGCGC | CA2550529811 | SLC25A42 | c.819_820insCTCCTGCCGCCGCTCGCGCGCGAAGACAGACAGAATAACGCGCCGCGCATCACGGACCTCCTGCGCGCCGCCACGCGC (p.Thr273_Ile274insLeuLeuProProLeuAlaArgGluAspArgGlnAsnAsnAlaProArgIleThrAspLeuLeuArgAlaAlaThrArg) c.1011_1012insCTCCTGCCGCCGCTCGCGCGCGAAGACAGACAGAATAACGCGCCGCGCATCACGGACCTCCTGCGCGCCGCCACGCGC (p.Thr337_Ile338insLeuLeuProProLeuAlaArgGluAspArgGlnAsnAsnAlaProArgIleThrAspLeuLeuArgAlaAlaThrArg) | |
| 19 | g.19110739A= | CA2326684803 | SLC25A42 | c.820A= (p.Ile274=) c.1012A= (p.Ile338=) | |
| 19 | g.19110739A>C | CA404898033 | SLC25A42 | c.820A>C (p.Ile274Leu) c.1012A>C (p.Ile338Leu) | |
| 19 | g.19110739A>G | CA306290784 | SLC25A42 | c.820A>G (p.Ile274Val) c.1012A>G (p.Ile338Val) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.19110739A>T | CA404898034 | SLC25A42 | c.820A>T (p.Ile274Phe) c.1012A>T (p.Ile338Phe) | gnomAD v4 |
| 19 | g.19110740T>A | CA404898035 | SLC25A42 | c.821T>A (p.Ile274Asn) c.1013T>A (p.Ile338Asn) | gnomAD v4 |
| 19 | g.19110740T>C | CA404898036 | SLC25A42 | c.821T>C (p.Ile274Thr) c.1013T>C (p.Ile338Thr) | |
| 19 | g.19110740T>G | CA404898037 | SLC25A42 | c.821T>G (p.Ile274Ser) c.1013T>G (p.Ile338Ser) | |
| 19 | g.19110740_19110758delinsTCGTGCGGGAGGAGGGCGC | CA2326684804 | SLC25A42 | c.821_839delinsTCGTGCGGGAGGAGGGCGC (p.Ile274=) c.1013_1031delinsTCGTGCGGGAGGAGGGCGC (p.Ile338=) | |
| 19 | g.19110741C>A | CA506060246 | SLC25A42 | c.822C>A (p.Ile274=) c.1014C>A (p.Ile338=) | gnomAD v4 |
| 19 | g.19110741C>G | CA404898038 | SLC25A42 | c.822C>G (p.Ile274Met) c.1014C>G (p.Ile338Met) | |
| 19 | g.19110741C>T | CA506060247 | SLC25A42 | c.822C>T (p.Ile274=) c.1014C>T (p.Ile338=) | |
| 19 | g.19110747_19110764del | CA784005100 | SLC25A42 | c.828_845del (p.Glu277_Arg282del) c.1020_1037del (p.Glu341_Arg346del) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.19110742G>A | CA404898039 | SLC25A42 | c.823G>A (p.Val275Met) c.1015G>A (p.Val339Met) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.19110742G>C | CA404898040 | SLC25A42 | c.823G>C (p.Val275Leu) c.1015G>C (p.Val339Leu) | |
| 19 | g.19110742G= | CA2326684805 | SLC25A42 | c.823G= (p.Val275=) c.1015G= (p.Val339=) | |
| 19 | g.19110742G>T | CA404898041 | SLC25A42 | c.823G>T (p.Val275Leu) c.1015G>T (p.Val339Leu) | dbSNP gnomAD v4 |
| 19 | g.19110742_19110743insACGGCC | CA2559278020 | SLC25A42 | c.823_824insACGGCC (p.Val275delinsAspGlyLeu) c.1015_1016insACGGCC (p.Val339delinsAspGlyLeu) | |
| 19 | g.19110743T>A | CA404898044 | SLC25A42 | c.824T>A (p.Val275Glu) c.1016T>A (p.Val339Glu) | |
| 19 | g.19110743T>C | CA404898043 | SLC25A42 | c.824T>C (p.Val275Ala) c.1016T>C (p.Val339Ala) | |
| 19 | g.19110743T>G | CA404898042 | SLC25A42 | c.824T>G (p.Val275Gly) c.1016T>G (p.Val339Gly) | |
| 19 | g.19110744G>A | CA506060250 | SLC25A42 | c.825G>A (p.Val275=) c.1017G>A (p.Val339=) | |
| 19 | g.19110744G>C | CA506060248 | SLC25A42 | c.825G>C (p.Val275=) c.1017G>C (p.Val339=) | |
| 19 | g.19110744G>T | CA506060249 | SLC25A42 | c.825G>T (p.Val275=) c.1017G>T (p.Val339=) | |
| 19 | g.19110744_19110745insACCCTTGA | CA2565678351 | SLC25A42 | c.825_826insACCCTTGA (p.Arg276ThrfsTer16) c.1017_1018insACCCTTGA (p.Arg340ThrfsTer16) | |
| 19 | g.19110745C>A | CA506060252 | SLC25A42 | c.826C>A (p.Arg276=) c.1018C>A (p.Arg340=) | |
| 19 | g.19110745C>G | CA404898045 | SLC25A42 | c.826C>G (p.Arg276Gly) c.1018C>G (p.Arg340Gly) | |
| 19 | g.19110745C>T | CA404898046 | SLC25A42 | c.826C>T (p.Arg276Trp) c.1018C>T (p.Arg340Trp) | gnomAD v4 |
| 19 | g.19110746G>A | CA9321578 | SLC25A42 | c.827G>A (p.Arg276Gln) c.1019G>A (p.Arg340Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.19110746G>C | CA404898047 | SLC25A42 | c.827G>C (p.Arg276Pro) c.1019G>C (p.Arg340Pro) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.19110746G= | CA2326684806 | SLC25A42 | c.827G= (p.Arg276=) c.1019G= (p.Arg340=) | |
| 19 | g.19110746G>T | CA404898048 | SLC25A42 | c.827G>T (p.Arg276Leu) c.1019G>T (p.Arg340Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.19110747G>A | CA506060253 | SLC25A42 | c.828G>A (p.Arg276=) c.1020G>A (p.Arg340=) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.19110747G>C | CA506060254 | SLC25A42 | c.828G>C (p.Arg276=) c.1020G>C (p.Arg340=) | |
| 19 | g.19110747G= | CA2326684807 | SLC25A42 | c.828G= (p.Arg276=) c.1020G= (p.Arg340=) | |
| 19 | g.19110747G>T | CA506060255 | SLC25A42 | c.828G>T (p.Arg276=) c.1020G>T (p.Arg340=) | |
| 19 | g.19110752_19110754del | CA2583667823 | SLC25A42 | c.833_835del (p.Glu278del) c.1025_1027del (p.Glu342del) | gnomAD v4 |
| 19 | g.19110747_19110748insCTACGTCATCC | CA2562677566 | SLC25A42 | c.828_829insCTACGTCATCC (p.Glu277LeufsTer16) c.1020_1021insCTACGTCATCC (p.Glu341LeufsTer16) | |
| 19 | g.19110748G>A | CA404898049 | SLC25A42 | c.829G>A (p.Glu277Lys) c.1021G>A (p.Glu341Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.19110748G>C | CA404898050 | SLC25A42 | c.829G>C (p.Glu277Gln) c.1021G>C (p.Glu341Gln) | dbSNP gnomAD v4 |
| 19 | g.19110748G= | CA2326684808 | SLC25A42 | c.829G= (p.Glu277=) c.1021G= (p.Glu341=) | |
| 19 | g.19110748G>T | CA404898051 | SLC25A42 | c.829G>T (p.Glu277Ter) c.1021G>T (p.Glu341Ter) | |
| 19 | g.19110749A= | CA2326684809 | SLC25A42 | c.830A= (p.Glu277=) c.1022A= (p.Glu341=) | |
| 19 | g.19110749A>C | CA404898052 | SLC25A42 | c.830A>C (p.Glu277Ala) c.1022A>C (p.Glu341Ala) | |
| 19 | g.19110749A>G | CA404898053 | SLC25A42 | c.830A>G (p.Glu277Gly) c.1022A>G (p.Glu341Gly) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.19110749A>T | CA404898054 | SLC25A42 | c.830A>T (p.Glu277Val) c.1022A>T (p.Glu341Val) | |
| 19 | g.19110750G>A | CA506060256 | SLC25A42 | c.831G>A (p.Glu277=) c.1023G>A (p.Glu341=) | |
| 19 | g.19110750G>C | CA404898055 | SLC25A42 | c.831G>C (p.Glu277Asp) c.1023G>C (p.Glu341Asp) | |
| 19 | g.19110750G>T | CA404898056 | SLC25A42 | c.831G>T (p.Glu277Asp) c.1023G>T (p.Glu341Asp) | |
| 19 | g.19110751G>A | CA404898059 | SLC25A42 | c.832G>A (p.Glu278Lys) c.1024G>A (p.Glu342Lys) | |
| 19 | g.19110751G>C | CA404898058 | SLC25A42 | c.832G>C (p.Glu278Gln) c.1024G>C (p.Glu342Gln) | |
| 19 | g.19110751G>T | CA404898057 | SLC25A42 | c.832G>T (p.Glu278Ter) c.1024G>T (p.Glu342Ter) | |
| 19 | g.19110752A= | CA2326684810 | SLC25A42 | c.833A= (p.Glu278=) c.1025A= (p.Glu342=) | |
| 19 | g.19110752A>C | CA404898060 | SLC25A42 | c.833A>C (p.Glu278Ala) c.1025A>C (p.Glu342Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.19110752A>G | CA404898061 | SLC25A42 | c.833A>G (p.Glu278Gly) c.1025A>G (p.Glu342Gly) | |
| 19 | g.19110752A>T | CA404898062 | SLC25A42 | c.833A>T (p.Glu278Val) c.1025A>T (p.Glu342Val) | |
| 19 | g.19110753G>A | CA506060257 | SLC25A42 | c.834G>A (p.Glu278=) c.1026G>A (p.Glu342=) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.19110753G>C | CA404898063 | SLC25A42 | c.834G>C (p.Glu278Asp) c.1026G>C (p.Glu342Asp) | |
| 19 | g.19110753G= | CA2326684811 | SLC25A42 | c.834G= (p.Glu278=) c.1026G= (p.Glu342=) | |
| 19 | g.19110753G>T | CA404898064 | SLC25A42 | c.834G>T (p.Glu278Asp) c.1026G>T (p.Glu342Asp) | |
| 19 | g.19110755dup | CA2583667824 | SLC25A42 | c.836dup (p.Ala280ArgfsTer?) c.1028dup (p.Ala344ArgfsTer?) | gnomAD v4 |
| 19 | g.19110754G>A | CA404898065 | SLC25A42 | c.835G>A (p.Gly279Ser) c.1027G>A (p.Gly343Ser) | gnomAD v4 |
| 19 | g.19110754G>C | CA404898066 | SLC25A42 | c.835G>C (p.Gly279Arg) c.1027G>C (p.Gly343Arg) | |
| 19 | g.19110754G>T | CA404898067 | SLC25A42 | c.835G>T (p.Gly279Cys) c.1027G>T (p.Gly343Cys) | |
| 19 | g.19110755G>A | CA404898068 | SLC25A42 | c.836G>A (p.Gly279Asp) c.1028G>A (p.Gly343Asp) | dbSNP |
| 19 | g.19110755G>C | CA404898070 | SLC25A42 | c.836G>C (p.Gly279Ala) c.1028G>C (p.Gly343Ala) | |
| 19 | g.19110755G= | CA2326684812 | SLC25A42 | c.836G= (p.Gly279=) c.1028G= (p.Gly343=) | |
| 19 | g.19110755G>T | CA404898069 | SLC25A42 | c.836G>T (p.Gly279Val) c.1028G>T (p.Gly343Val) | |
| 19 | g.19110756C>A | CA506060258 | SLC25A42 | c.837C>A (p.Gly279=) c.1029C>A (p.Gly343=) | |
| 19 | g.19110756C= | CA2326684813 | SLC25A42 | c.837C= (p.Gly279=) c.1029C= (p.Gly343=) | |
| 19 | g.19110756C>G | CA506060259 | SLC25A42 | c.837C>G (p.Gly279=) c.1029C>G (p.Gly343=) | dbSNP |
| 19 | g.19110756C>T | CA9321579 | SLC25A42 | c.837C>T (p.Gly279=) c.1029C>T (p.Gly343=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.19110757G>A | CA404898071 | SLC25A42 | c.838G>A (p.Ala280Thr) c.1030G>A (p.Ala344Thr) | |
| 19 | g.19110757G>C | CA404898072 | SLC25A42 | c.838G>C (p.Ala280Pro) c.1030G>C (p.Ala344Pro) | |
| 19 | g.19110757G>T | CA404898073 | SLC25A42 | c.838G>T (p.Ala280Ser) c.1030G>T (p.Ala344Ser) | |
| 19 | g.19110758C>A | CA404898076 | SLC25A42 | c.839C>A (p.Ala280Asp) c.1031C>A (p.Ala344Asp) | |
| 19 | g.19110758C= | CA2326684814 | SLC25A42 | c.839C= (p.Ala280=) c.1031C= (p.Ala344=) | |
| 19 | g.19110758C>G | CA404898074 | SLC25A42 | c.839C>G (p.Ala280Gly) c.1031C>G (p.Ala344Gly) | |
| 19 | g.19110758C>T | CA404898075 | SLC25A42 | c.839C>T (p.Ala280Val) c.1031C>T (p.Ala344Val) | dbSNP |
| 19 | g.19110759C>A | CA506060260 | SLC25A42 | c.840C>A (p.Ala280=) c.1032C>A (p.Ala344=) | |
| 19 | g.19110759C= | CA2326684815 | SLC25A42 | c.840C= (p.Ala280=) c.1032C= (p.Ala344=) | |
| 19 | g.19110759C>G | CA506060261 | SLC25A42 | c.840C>G (p.Ala280=) c.1032C>G (p.Ala344=) | gnomAD v4 |
| 19 | g.19110759C>T | CA506060262 | SLC25A42 | c.840C>T (p.Ala280=) c.1032C>T (p.Ala344=) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.19110760G>A | CA9321580 | SLC25A42 | c.841G>A (p.Val281Met) c.1033G>A (p.Val345Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.19110760G>C | CA404898077 | SLC25A42 | c.841G>C (p.Val281Leu) c.1033G>C (p.Val345Leu) | gnomAD v4 |
| 19 | g.19110760G= | CA2326684816 | SLC25A42 | c.841G= (p.Val281=) c.1033G= (p.Val345=) | |
| 19 | g.19110760G>T | CA404898078 | SLC25A42 | c.841G>T (p.Val281Leu) c.1033G>T (p.Val345Leu) | dbSNP |
| 19 | g.19110761T>A | CA404898079 | SLC25A42 | c.842T>A (p.Val281Glu) c.1034T>A (p.Val345Glu) | gnomAD v4 |
| 19 | g.19110761T>C | CA404898080 | SLC25A42 | c.842T>C (p.Val281Ala) c.1034T>C (p.Val345Ala) | |
| 19 | g.19110761T>G | CA404898081 | SLC25A42 | c.842T>G (p.Val281Gly) c.1034T>G (p.Val345Gly) | |
| 19 | g.19110762G>A | CA506060263 | SLC25A42 | c.843G>A (p.Val281=) c.1035G>A (p.Val345=) | |
| 19 | g.19110762G>C | CA9321581 | SLC25A42 | c.843G>C (p.Val281=) c.1035G>C (p.Val345=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.19110762G= | CA2326684817 | SLC25A42 | c.843G= (p.Val281=) c.1035G= (p.Val345=) | |
| 19 | g.19110762G>T | CA506060264 | SLC25A42 | c.843G>T (p.Val281=) c.1035G>T (p.Val345=) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.19110763C>A | CA404898082 | SLC25A42 | c.844C>A (p.Arg282Ser) c.1036C>A (p.Arg346Ser) | dbSNP gnomAD v4 |
| 19 | g.19110763C= | CA2326684818 | SLC25A42 | c.844C= (p.Arg282=) c.1036C= (p.Arg346=) | |
| 19 | g.19110763C>G | CA404898083 | SLC25A42 | c.844C>G (p.Arg282Gly) c.1036C>G (p.Arg346Gly) | |
| 19 | g.19110763C>T | CA404898084 | SLC25A42 | c.844C>T (p.Arg282Cys) c.1036C>T (p.Arg346Cys) | dbSNP gnomAD v4 |
| 19 | g.19110764G>A | CA404898085 | SLC25A42 | c.845G>A (p.Arg282His) c.1037G>A (p.Arg346His) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.19110764G>C | CA404898086 | SLC25A42 | c.845G>C (p.Arg282Pro) c.1037G>C (p.Arg346Pro) | |
| 19 | g.19110764G= | CA2326684819 | SLC25A42 | c.845G= (p.Arg282=) c.1037G= (p.Arg346=) | |
| 19 | g.19110764G>T | CA404898087 | SLC25A42 | c.845G>T (p.Arg282Leu) c.1037G>T (p.Arg346Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.19110765C>A | CA506060265 | SLC25A42 | c.846C>A (p.Arg282=) c.1038C>A (p.Arg346=) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.19110765C= | CA2326684820 | SLC25A42 | c.846C= (p.Arg282=) c.1038C= (p.Arg346=) | |
| 19 | g.19110765C>G | CA506060267 | SLC25A42 | c.846C>G (p.Arg282=) c.1038C>G (p.Arg346=) | |
| 19 | g.19110765C>T | CA506060266 | SLC25A42 | c.846C>T (p.Arg282=) c.1038C>T (p.Arg346=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.19110766G>A | CA404898088 | SLC25A42 | c.847G>A (p.Gly283Ser) c.1039G>A (p.Gly347Ser) | |
| 19 | g.19110766G>C | CA404898090 | SLC25A42 | c.847G>C (p.Gly283Arg) c.1039G>C (p.Gly347Arg) | |
| 19 | g.19110766G>T | CA404898089 | SLC25A42 | c.847G>T (p.Gly283Cys) c.1039G>T (p.Gly347Cys) | gnomAD v4 |
| 19 | g.19110767del | CA2583667825 | SLC25A42 | c.848del (p.Gly283AlafsTer6) c.1040del (p.Gly347AlafsTer6) | gnomAD v4 |
| 19 | g.19110767G>A | CA404898091 | SLC25A42 | c.848G>A (p.Gly283Asp) c.1040G>A (p.Gly347Asp) | |
| 19 | g.19110767G>C | CA9321582 | SLC25A42 | c.848G>C (p.Gly283Ala) c.1040G>C (p.Gly347Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.19110767G= | CA2326684821 | SLC25A42 | c.848G= (p.Gly283=) c.1040G= (p.Gly347=) | |
| 19 | g.19110767G>T | CA404898092 | SLC25A42 | c.848G>T (p.Gly283Val) c.1040G>T (p.Gly347Val) | |
| 19 | g.19110768C>A | CA506060268 | SLC25A42 | c.849C>A (p.Gly283=) c.1041C>A (p.Gly347=) | |
| 19 | g.19110768C= | CA2326684822 | SLC25A42 | c.849C= (p.Gly283=) c.1041C= (p.Gly347=) | |
| 19 | g.19110768C>G | CA506060269 | SLC25A42 | c.849C>G (p.Gly283=) c.1041C>G (p.Gly347=) | |
| 19 | g.19110768C>T | CA506060270 | SLC25A42 | c.849C>T (p.Gly283=) c.1041C>T (p.Gly347=) | dbSNP |
| 19 | g.19110769C>A | CA404898093 | SLC25A42 | c.850C>A (p.Leu284Ile) c.1042C>A (p.Leu348Ile) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.19110769C= | CA2326684823 | SLC25A42 | c.850C= (p.Leu284=) c.1042C= (p.Leu348=) | |
| 19 | g.19110769C>G | CA404898094 | SLC25A42 | c.850C>G (p.Leu284Val) c.1042C>G (p.Leu348Val) | |
| 19 | g.19110769C>T | CA404898095 | SLC25A42 | c.850C>T (p.Leu284Phe) c.1042C>T (p.Leu348Phe) | |
| 19 | g.19110770T>A | CA404898096 | SLC25A42 | c.851T>A (p.Leu284His) c.1043T>A (p.Leu348His) | |
| 19 | g.19110770T>C | CA404898097 | SLC25A42 | c.851T>C (p.Leu284Pro) c.1043T>C (p.Leu348Pro) | |
| 19 | g.19110770T>G | CA404898098 | SLC25A42 | c.851T>G (p.Leu284Arg) c.1043T>G (p.Leu348Arg) | |
| 19 | g.19110771C>A | CA506060271 | SLC25A42 | c.852C>A (p.Leu284=) c.1044C>A (p.Leu348=) | |
| 19 | g.19110771C= | CA2326684824 | SLC25A42 | c.852C= (p.Leu284=) c.1044C= (p.Leu348=) | |
| 19 | g.19110771C>G | CA506060272 | SLC25A42 | c.852C>G (p.Leu284=) c.1044C>G (p.Leu348=) | dbSNP COSMIC |
| 19 | g.19110771C>T | CA506060273 | SLC25A42 | c.852C>T (p.Leu284=) c.1044C>T (p.Leu348=) | COSMIC |
| 19 | g.19110772T>A | CA404898099 | SLC25A42 | c.853T>A (p.Tyr285Asn) c.1045T>A (p.Tyr349Asn) | |
| 19 | g.19110772T>C | CA404898100 | SLC25A42 | c.853T>C (p.Tyr285His) c.1045T>C (p.Tyr349His) | |
| 19 | g.19110772T>G | CA404898101 | SLC25A42 | c.853T>G (p.Tyr285Asp) c.1045T>G (p.Tyr349Asp) | |
| 19 | g.19110773A= | CA2326684825 | SLC25A42 | c.854A= (p.Tyr285=) c.1046A= (p.Tyr349=) | |
| 19 | g.19110773A>C | CA404898103 | SLC25A42 | c.854A>C (p.Tyr285Ser) c.1046A>C (p.Tyr349Ser) | |
| 19 | g.19110773A>G | CA404898104 | SLC25A42 | c.854A>G (p.Tyr285Cys) c.1046A>G (p.Tyr349Cys) | dbSNP gnomAD v4 |
| 19 | g.19110773A>T | CA404898102 | SLC25A42 | c.854A>T (p.Tyr285Phe) c.1046A>T (p.Tyr349Phe) | |
| 19 | g.19110774C>A | CA404898105 | SLC25A42 | c.855C>A (p.Tyr285Ter) c.1047C>A (p.Tyr349Ter) | |
| 19 | g.19110774C>G | CA404898106 | SLC25A42 | c.855C>G (p.Tyr285Ter) c.1047C>G (p.Tyr349Ter) | |
| 19 | g.19110774C>T | CA506060275 | SLC25A42 | c.855C>T (p.Tyr285=) c.1047C>T (p.Tyr349=) | gnomAD v4 |
| 19 | g.19110775A>C | CA404898107 | SLC25A42 | c.856A>C (p.Lys286Gln) c.1048A>C (p.Lys350Gln) | |
| 19 | g.19110775A>G | CA404898108 | SLC25A42 | c.856A>G (p.Lys286Glu) c.1048A>G (p.Lys350Glu) | |
| 19 | g.19110775A>T | CA404898109 | SLC25A42 | c.856A>T (p.Lys286Ter) c.1048A>T (p.Lys350Ter) | |
| 19 | g.19110777del | CA2583667826 | SLC25A42 | c.858del (p.Gly287AlafsTer2) c.1050del (p.Gly351AlafsTer2) | gnomAD v4 |
| 19 | g.19110776A= | CA2326684826 | SLC25A42 | c.857A= (p.Lys286=) c.1049A= (p.Lys350=) | |
| 19 | g.19110776A>C | CA404898112 | SLC25A42 | c.857A>C (p.Lys286Thr) c.1049A>C (p.Lys350Thr) | |
| 19 | g.19110776A>G | CA404898110 | SLC25A42 | c.857A>G (p.Lys286Arg) c.1049A>G (p.Lys350Arg) | dbSNP gnomAD v2 |
| 19 | g.19110776A>T | CA404898111 | SLC25A42 | c.857A>T (p.Lys286Ile) c.1049A>T (p.Lys350Ile) | |
| 19 | g.19110777A>C | CA404898113 | SLC25A42 | c.858A>C (p.Lys286Asn) c.1050A>C (p.Lys350Asn) | |
| 19 | g.19110777A>G | CA506060276 | SLC25A42 | c.858A>G (p.Lys286=) c.1050A>G (p.Lys350=) | |
| 19 | g.19110777A>T | CA404898114 | SLC25A42 | c.858A>T (p.Lys286Asn) c.1050A>T (p.Lys350Asn) | |
| 19 | g.19110778G>A | CA404898115 | SLC25A42 | c.859G>A (p.Gly287Ser) c.1051G>A (p.Gly351Ser) | |
| 19 | g.19110778G>C | CA404898116 | SLC25A42 | c.859G>C (p.Gly287Arg) c.1051G>C (p.Gly351Arg) | |
| 19 | g.19110778G>T | CA404898117 | SLC25A42 | c.859G>T (p.Gly287Cys) c.1051G>T (p.Gly351Cys) | |
| 19 | g.19110779G>A | CA404898120 | SLC25A42 | c.860G>A (p.Gly287Asp) c.1052G>A (p.Gly351Asp) | |
| 19 | g.19110779G>C | CA404898118 | SLC25A42 | c.860G>C (p.Gly287Ala) c.1052G>C (p.Gly351Ala) | |
| 19 | g.19110779G>T | CA404898119 | SLC25A42 | c.860G>T (p.Gly287Val) c.1052G>T (p.Gly351Val) | |
| 19 | g.19110780C>A | CA506060277 | SLC25A42 | c.861C>A (p.Gly287=) c.1053C>A (p.Gly351=) | |
| 19 | g.19110780C>G | CA506060278 | SLC25A42 | c.861C>G (p.Gly287=) c.1053C>G (p.Gly351=) | |
| 19 | g.19110780C>T | CA506060279 | SLC25A42 | c.861C>T (p.Gly287=) c.1053C>T (p.Gly351=) | |
| 19 | g.19110781T>A | CA404898121 | SLC25A42 | c.862T>A (p.Leu288Met) c.1054T>A (p.Leu352Met) | |
| 19 | g.19110781T>C | CA506060280 | SLC25A42 | c.862T>C (p.Leu288=) c.1054T>C (p.Leu352=) | |
| 19 | g.19110781T>G | CA404898122 | SLC25A42 | c.862T>G (p.Leu288Val) c.1054T>G (p.Leu352Val) | |
| 19 | g.19110782T>A | CA404898123 | SLC25A42 | c.863T>A (p.Leu288Ter) c.1055T>A (p.Leu352Ter) | |
| 19 | g.19110782T>C | CA404898124 | SLC25A42 | c.863T>C (p.Leu288Ser) c.1055T>C (p.Leu352Ser) | |
| 19 | g.19110782T>G | CA404898125 | SLC25A42 | c.863T>G (p.Leu288Trp) c.1055T>G (p.Leu352Trp) | dbSNP |
| 19 | g.19110782T= | CA2326684827 | SLC25A42 | c.863T= (p.Leu288=) c.1055T= (p.Leu352=) | |
| 19 | g.19110783G>A | CA9321583 | SLC25A42 | c.864G>A (p.Leu288=) c.1056G>A (p.Leu352=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.19110783G>C | CA306290816 | SLC25A42 | c.864G>C (p.Leu288Phe) c.1056G>C (p.Leu352Phe) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 19 | g.19110783G= | CA2326684828 | SLC25A42 | c.864G= (p.Leu288=) c.1056G= (p.Leu352=) | |
| 19 | g.19110783G>T | CA404898126 | SLC25A42 | c.864G>T (p.Leu288Phe) c.1056G>T (p.Leu352Phe) | |
| 19 | g.19110784A>C | CA404898127 | SLC25A42 | c.865A>C (p.Ser289Arg) c.1057A>C (p.Ser353Arg) | |
| 19 | g.19110784A>G | CA404898128 | SLC25A42 | c.865A>G (p.Ser289Gly) c.1057A>G (p.Ser353Gly) | |
| 19 | g.19110784A>T | CA404898129 | SLC25A42 | c.865A>T (p.Ser289Cys) c.1057A>T (p.Ser353Cys) | |
| 19 | g.19110785G>A | CA404898130 | SLC25A42 | c.866G>A (p.Ser289Asn) c.1058G>A (p.Ser353Asn) | gnomAD v4 |
| 19 | g.19110785G>C | CA404898131 | SLC25A42 | c.866G>C (p.Ser289Thr) c.1058G>C (p.Ser353Thr) | |
| 19 | g.19110785G>T | CA404898132 | SLC25A42 | c.866G>T (p.Ser289Ile) c.1058G>T (p.Ser353Ile) | |
| 19 | g.19110786C>A | CA404898134 | SLC25A42 | c.867C>A (p.Ser289Arg) c.1059C>A (p.Ser353Arg) | |
| 19 | g.19110786C= | CA2326684829 | SLC25A42 | c.867C= (p.Ser289=) c.1059C= (p.Ser353=) | |
| 19 | g.19110786C>G | CA404898133 | SLC25A42 | c.867C>G (p.Ser289Arg) c.1059C>G (p.Ser353Arg) | gnomAD v4 |
| 19 | g.19110786C>T | CA9321584 | SLC25A42 | c.867C>T (p.Ser289=) c.1059C>T (p.Ser353=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.19110787A= | CA2326684830 | SLC25A42 | c.868A= (p.Met290=) c.1060A= (p.Met354=) | |
| 19 | g.19110787A>C | CA404898135 | SLC25A42 | c.868A>C (p.Met290Leu) c.1060A>C (p.Met354Leu) | |
| 19 | g.19110787A>G | CA9321585 | SLC25A42 | c.868A>G (p.Met290Val) c.1060A>G (p.Met354Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.19110787A>T | CA404898136 | SLC25A42 | c.868A>T (p.Met290Leu) c.1060A>T (p.Met354Leu) | COSMIC |
| 19 | g.19110788T>A | CA404898137 | SLC25A42 | c.869T>A (p.Met290Lys) c.1061T>A (p.Met354Lys) | |
| 19 | g.19110788T>C | CA404898138 | SLC25A42 | c.869T>C (p.Met290Thr) c.1061T>C (p.Met354Thr) | |
| 19 | g.19110788T>G | CA404898139 | SLC25A42 | c.869T>G (p.Met290Arg) c.1061T>G (p.Met354Arg) | |
| 19 | g.19110789G>A | CA404898140 | SLC25A42 | c.870G>A (p.Met290Ile) c.1062G>A (p.Met354Ile) | |
| 19 | g.19110789G>C | CA404898141 | SLC25A42 | c.870G>C (p.Met290Ile) c.1062G>C (p.Met354Ile) | |
| 19 | g.19110789G>T | CA404898142 | SLC25A42 | c.870G>T (p.Met290Ile) c.1062G>T (p.Met354Ile) | |
| 19 | g.19110790A= | CA2326684831 | SLC25A42 | c.871A= (p.Asn291=) c.1063A= (p.Asn355=) | |
| 19 | g.19110790A>C | CA404898143 | SLC25A42 | c.871A>C (p.Asn291His) c.1063A>C (p.Asn355His) | |
| 19 | g.19110790A>G | CA279953 | SLC25A42 | c.871A>G (p.Asn291Asp) c.1063A>G (p.Asn355Asp) | ClinVar dbSNP |
| 19 | g.19110790A>T | CA404898144 | SLC25A42 | c.871A>T (p.Asn291Tyr) c.1063A>T (p.Asn355Tyr) |