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 |
|---|---|---|---|---|---|
| 6 | g.122780217C>A | CA2578729617 | FABP7 | c.74-74C>A (n.74-74C>A) c.62-74C>A (n.62-74C>A) | gnomAD v4 |
| 6 | g.122780217_122780221delinsCAGAA | CA1660115203 | FABP7 | c.74-74_74-70delinsCAGAA (n.74-74_74-70delinsCAGAA) c.62-74_62-70delinsCAGAA (n.62-74_62-70delinsCAGAA) | |
| 6 | g.122780218A>G | CA2680210747 | FABP7 | c.74-73A>G (n.74-73A>G) c.62-73A>G (n.62-73A>G) | gnomAD v4 |
| 6 | g.122780220_122780223del | CA818250008 | FABP7 | c.74-71_74-68del (n.74-71_74-68del) c.62-71_62-68del (n.62-71_62-68del) | dbSNP gnomAD v4 |
| 6 | g.122780219G>C | CA2680210748 | FABP7 | c.74-72G>C (n.74-72G>C) c.62-72G>C (n.62-72G>C) | gnomAD v4 |
| 6 | g.122780220A>G | CA2680210749 | FABP7 | c.74-71A>G (n.74-71A>G) c.62-71A>G (n.62-71A>G) | gnomAD v4 |
| 6 | g.122780221A= | CA1660115204 | FABP7 | c.74-70A= (n.74-70A=) c.62-70A= (n.62-70A=) | |
| 6 | g.122780221A>G | CA818250010 | FABP7 | c.74-70A>G (n.74-70A>G) c.62-70A>G (n.62-70A>G) | dbSNP gnomAD v4 |
| 6 | g.122780223G>T | CA2680210750 | FABP7 | c.74-68G>T (n.74-68G>T) c.62-68G>T (n.62-68G>T) | gnomAD v4 |
| 6 | g.122780224C>A | CA2680210751 | FABP7 | c.74-67C>A (n.74-67C>A) c.62-67C>A (n.62-67C>A) | gnomAD v4 |
| 6 | g.122780224C= | CA1660115205 | FABP7 | c.74-67C= (n.74-67C=) c.62-67C= (n.62-67C=) | |
| 6 | g.122780224C>G | CA818250011 | FABP7 | c.74-67C>G (n.74-67C>G) c.62-67C>G (n.62-67C>G) | dbSNP |
| 6 | g.122780225A>C | CA2680210753 | FABP7 | c.74-66A>C (n.74-66A>C) c.62-66A>C (n.62-66A>C) | gnomAD v4 |
| 6 | g.122780225dup | CA2680210752 | FABP7 | c.74-66dup (n.74-66dup) c.62-66dup (n.62-66dup) | gnomAD v4 |
| 6 | g.122780225_122780226insAGAATCTGCTTTCT | CA2680210754 | FABP7 | c.74-66_74-65insAGAATCTGCTTTCT (n.74-66_74-65insAGAATCTGCTTTCT) c.62-66_62-65insAGAATCTGCTTTCT (n.62-66_62-65insAGAATCTGCTTTCT) | gnomAD v4 |
| 6 | g.122780226G= | CA1660115206 | FABP7 | c.74-65G= (n.74-65G=) c.62-65G= (n.62-65G=) | |
| 6 | g.122780226G>T | CA147076742 | FABP7 | c.74-65G>T (n.74-65G>T) c.62-65G>T (n.62-65G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.122780227A>C | CA2680210755 | FABP7 | c.74-64A>C (n.74-64A>C) c.62-64A>C (n.62-64A>C) | gnomAD v4 |
| 6 | g.122780228T>A | CA2581595834 | FABP7 | c.74-63T>A (n.74-63T>A) c.62-63T>A (n.62-63T>A) | gnomAD v4 |
| 6 | g.122780228T>C | CA2581595835 | FABP7 | c.74-63T>C (n.74-63T>C) c.62-63T>C (n.62-63T>C) | |
| 6 | g.122780228T>G | CA12416439 | FABP7 | c.74-63T>G (n.74-63T>G) c.62-63T>G (n.62-63T>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.122780228T= | CA1660115207 | FABP7 | c.74-63T= (n.74-63T=) c.62-63T= (n.62-63T=) | |
| 6 | g.122780229T>G | CA2680210756 | FABP7 | c.74-62T>G (n.74-62T>G) c.62-62T>G (n.62-62T>G) | gnomAD v4 |
| 6 | g.122780230C= | CA1660115208 | FABP7 | c.74-61C= (n.74-61C=) c.62-61C= (n.62-61C=) | |
| 6 | g.122780230C>T | CA1660115209 | FABP7 | c.74-61C>T (n.74-61C>T) c.62-61C>T (n.62-61C>T) | dbSNP |
| 6 | g.122780231T>C | CA2680210757 | FABP7 | c.74-60T>C (n.74-60T>C) c.62-60T>C (n.62-60T>C) | gnomAD v4 |
| 6 | g.122780232del | CA2680210758 | FABP7 | c.74-59del (n.74-59del) c.62-59del (n.62-59del) | gnomAD v4 |
| 6 | g.122780232T>C | CA2680210759 | FABP7 | c.74-59T>C (n.74-59T>C) c.62-59T>C (n.62-59T>C) | gnomAD v4 |
| 6 | g.122780233G>T | CA2680210760 | FABP7 | c.74-58G>T (n.74-58G>T) c.62-58G>T (n.62-58G>T) | gnomAD v4 |
| 6 | g.122780234C>A | CA2680210761 | FABP7 | c.74-57C>A (n.74-57C>A) c.62-57C>A (n.62-57C>A) | gnomAD v4 |
| 6 | g.122780234C>T | CA2578729618 | FABP7 | c.74-57C>T (n.74-57C>T) c.62-57C>T (n.62-57C>T) | gnomAD v4 |
| 6 | g.122780235T>A | CA2680210762 | FABP7 | c.74-56T>A (n.74-56T>A) c.62-56T>A (n.62-56T>A) | gnomAD v4 |
| 6 | g.122780235T>C | CA2680210763 | FABP7 | c.74-56T>C (n.74-56T>C) c.62-56T>C (n.62-56T>C) | gnomAD v4 |
| 6 | g.122780236T>C | CA2578729619 | FABP7 | c.74-55T>C (n.74-55T>C) c.62-55T>C (n.62-55T>C) | |
| 6 | g.122780236T>G | CA147076750 | FABP7 | c.74-55T>G (n.74-55T>G) c.62-55T>G (n.62-55T>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.122780236T= | CA1660115210 | FABP7 | c.74-55T= (n.74-55T=) c.62-55T= (n.62-55T=) | |
| 6 | g.122780237T>C | CA2680210764 | FABP7 | c.74-54T>C (n.74-54T>C) c.62-54T>C (n.62-54T>C) | gnomAD v4 |
| 6 | g.122780238G>A | CA818250016 | FABP7 | c.74-53G>A (n.74-53G>A) c.62-53G>A (n.62-53G>A) | dbSNP |
| 6 | g.122780238G= | CA1660115211 | FABP7 | c.74-53G= (n.74-53G=) c.62-53G= (n.62-53G=) | |
| 6 | g.122780239T>C | CA147076751 | FABP7 | c.74-52T>C (n.74-52T>C) c.62-52T>C (n.62-52T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.122780239T>G | CA2680210765 | FABP7 | c.74-52T>G (n.74-52T>G) c.62-52T>G (n.62-52T>G) | gnomAD v4 |
| 6 | g.122780239T= | CA1660115212 | FABP7 | c.74-52T= (n.74-52T=) c.62-52T= (n.62-52T=) | |
| 6 | g.122780240G>C | CA570510039 | FABP7 | c.74-51G>C (n.74-51G>C) c.62-51G>C (n.62-51G>C) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.122780240G= | CA1660115213 | FABP7 | c.74-51G= (n.74-51G=) c.62-51G= (n.62-51G=) | |
| 6 | g.122780240G>T | CA2680210766 | FABP7 | c.74-51G>T (n.74-51G>T) c.62-51G>T (n.62-51G>T) | gnomAD v4 |
| 6 | g.122780241A>G | CA2680210767 | FABP7 | c.74-50A>G (n.74-50A>G) c.62-50A>G (n.62-50A>G) | gnomAD v4 |
| 6 | g.122780242G>A | CA3982878 | FABP7 | c.74-49G>A (n.74-49G>A) c.62-49G>A (n.62-49G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.122780242G>C | CA818250025 | FABP7 | c.74-49G>C (n.74-49G>C) c.62-49G>C (n.62-49G>C) | dbSNP |
| 6 | g.122780242G= | CA1660115214 | FABP7 | c.74-49G= (n.74-49G=) c.62-49G= (n.62-49G=) | |
| 6 | g.122780242G>T | CA2680210768 | FABP7 | c.74-49G>T (n.74-49G>T) c.62-49G>T (n.62-49G>T) | gnomAD v4 |
| 6 | g.122780245A= | CA1660115215 | FABP7 | c.74-46A= (n.74-46A=) c.62-46A= (n.62-46A=) | |
| 6 | g.122780245A>G | CA570510040 | FABP7 | c.74-46A>G (n.74-46A>G) c.62-46A>G (n.62-46A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.122780246T>C | CA1660115217 | FABP7 | c.74-45T>C (n.74-45T>C) c.62-45T>C (n.62-45T>C) | dbSNP gnomAD v4 |
| 6 | g.122780246T= | CA1660115216 | FABP7 | c.74-45T= (n.74-45T=) c.62-45T= (n.62-45T=) | |
| 6 | g.122780249del | CA2680210769 | FABP7 | c.74-42del (n.74-42del) c.62-42del (n.62-42del) | gnomAD v4 |
| 6 | g.122780248T>C | CA570510041 | FABP7 | c.74-43T>C (n.74-43T>C) c.62-43T>C (n.62-43T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.122780248T= | CA1660115218 | FABP7 | c.74-43T= (n.74-43T=) c.62-43T= (n.62-43T=) | |
| 6 | g.122780250G>T | CA2578729621 | FABP7 | c.74-41G>T (n.74-41G>T) c.62-41G>T (n.62-41G>T) | |
| 6 | g.122780251del | CA2578729620 | FABP7 | c.74-40del (n.74-40del) c.62-40del (n.62-40del) | |
| 6 | g.122780251G>A | CA3982879 | FABP7 | c.74-40G>A (n.74-40G>A) c.62-40G>A (n.62-40G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.122780251G= | CA1660115219 | FABP7 | c.74-40G= (n.74-40G=) c.62-40G= (n.62-40G=) | |
| 6 | g.122780253A>C | CA2680210770 | FABP7 | c.74-38A>C (n.74-38A>C) c.62-38A>C (n.62-38A>C) | gnomAD v4 |
| 6 | g.122780254G>A | CA2680210771 | FABP7 | c.74-37G>A (n.74-37G>A) c.62-37G>A (n.62-37G>A) | gnomAD v4 |
| 6 | g.122780255T>C | CA570510042 | FABP7 | c.74-36T>C (n.74-36T>C) c.62-36T>C (n.62-36T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.122780255T= | CA1660115220 | FABP7 | c.74-36T= (n.74-36T=) c.62-36T= (n.62-36T=) | |
| 6 | g.122780256C>A | CA2680210772 | FABP7 | c.74-35C>A (n.74-35C>A) c.62-35C>A (n.62-35C>A) | gnomAD v4 |
| 6 | g.122780256C= | CA1660115221 | FABP7 | c.74-35C= (n.74-35C=) c.62-35C= (n.62-35C=) | |
| 6 | g.122780256C>T | CA3982880 | FABP7 | c.74-35C>T (n.74-35C>T) c.62-35C>T (n.62-35C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.122780257G>A | CA147076787 | FABP7 | c.74-34G>A (n.74-34G>A) c.62-34G>A (n.62-34G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.122780257G>C | CA818250036 | FABP7 | c.74-34G>C (n.74-34G>C) c.62-34G>C (n.62-34G>C) | dbSNP |
| 6 | g.122780257G= | CA1660115222 | FABP7 | c.74-34G= (n.74-34G=) c.62-34G= (n.62-34G=) | |
| 6 | g.122780259T>C | CA570510043 | FABP7 | c.74-32T>C (n.74-32T>C) c.62-32T>C (n.62-32T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.122780259T= | CA1660115223 | FABP7 | c.74-32T= (n.74-32T=) c.62-32T= (n.62-32T=) | |
| 6 | g.122780260G>A | CA2680210773 | FABP7 | c.74-31G>A (n.74-31G>A) c.62-31G>A (n.62-31G>A) | gnomAD v4 |
| 6 | g.122780260G>C | CA451977534 | FABP7 | c.74-31G>C (n.74-31G>C) c.62-31G>C (n.62-31G>C) | dbSNP |
| 6 | g.122780260G= | CA1660115224 | FABP7 | c.74-31G= (n.74-31G=) c.62-31G= (n.62-31G=) | |
| 6 | g.122780262A>G | CA2680210774 | FABP7 | c.74-29A>G (n.74-29A>G) c.62-29A>G (n.62-29A>G) | dbSNP gnomAD v4 |
| 6 | g.122780263G>T | CA2578729622 | FABP7 | c.74-28G>T (n.74-28G>T) c.62-28G>T (n.62-28G>T) | gnomAD v4 |
| 6 | g.122780266T>C | CA2772886461 | FABP7 | c.74-25T>C (n.74-25T>C) c.62-25T>C (n.62-25T>C) | |
| 6 | g.122780268T>A | CA2680210775 | FABP7 | c.74-23T>A (n.74-23T>A) c.62-23T>A (n.62-23T>A) | gnomAD v4 |
| 6 | g.122780268T>C | CA2680210776 | FABP7 | c.74-23T>C (n.74-23T>C) c.62-23T>C (n.62-23T>C) | gnomAD v4 |
| 6 | g.122780269_122780270delinsAC | CA1660115225 | FABP7 | c.74-22_74-21delinsAC (n.74-22_74-21delinsAC) c.62-22_62-21delinsAC (n.62-22_62-21delinsAC) | |
| 6 | g.122780270del | CA1660115226 | FABP7 | c.74-21del (n.74-21del) c.62-21del (n.62-21del) | dbSNP |
| 6 | g.122780270C= | CA1660115227 | FABP7 | c.74-21C= (n.74-21C=) c.62-21C= (n.62-21C=) | |
| 6 | g.122780270C>T | CA2680210777 | FABP7 | c.74-21C>T (n.74-21C>T) c.62-21C>T (n.62-21C>T) | gnomAD v4 |
| 6 | g.122780271T>A | CA2680210779 | FABP7 | c.74-20T>A (n.74-20T>A) c.62-20T>A (n.62-20T>A) | gnomAD v4 |
| 6 | g.122780271T>C | CA2680210778 | FABP7 | c.74-20T>C (n.74-20T>C) c.62-20T>C (n.62-20T>C) | gnomAD v4 |
| 6 | g.122780271T>G | CA1660115228 | FABP7 | c.74-20T>G (n.74-20T>G) c.62-20T>G (n.62-20T>G) | dbSNP gnomAD v4 |
| 6 | g.122780271T= | CA1660115229 | FABP7 | c.74-20T= (n.74-20T=) c.62-20T= (n.62-20T=) | |
| 6 | g.122780272_122780274dup | CA1093957490 | FABP7 | c.74-19_74-17dup (n.74-19_74-17dup) c.62-19_62-17dup (n.62-19_62-17dup) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.122780272G>A | CA2680210780 | FABP7 | c.74-19G>A (n.74-19G>A) c.62-19G>A (n.62-19G>A) | gnomAD v4 |
| 6 | g.122780275C>G | CA2578729623 | FABP7 | c.74-16C>G (n.74-16C>G) c.62-16C>G (n.62-16C>G) | |
| 6 | g.122780275C>T | CA2713061024 | FABP7 | c.74-16C>T (n.74-16C>T) c.62-16C>T (n.62-16C>T) | dbSNP |
| 6 | g.122780276C= | CA1660115230 | FABP7 | c.74-15C= (n.74-15C=) c.62-15C= (n.62-15C=) | |
| 6 | g.122780276C>T | CA1660115231 | FABP7 | c.74-15C>T (n.74-15C>T) c.62-15C>T (n.62-15C>T) | dbSNP gnomAD v4 |
| 6 | g.122780277C>T | CA2680210781 | FABP7 | c.74-14C>T (n.74-14C>T) c.62-14C>T (n.62-14C>T) | gnomAD v4 |
| 6 | g.122780278T>G | CA570510044 | FABP7 | c.74-13T>G (n.74-13T>G) c.62-13T>G (n.62-13T>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.122780278T= | CA1660115232 | FABP7 | c.74-13T= (n.74-13T=) c.62-13T= (n.62-13T=) | |
| 6 | g.122780279T>A | CA3982881 | FABP7 | c.74-12T>A (n.74-12T>A) c.62-12T>A (n.62-12T>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.122780279T>G | CA2772886462 | FABP7 | c.74-12T>G (n.74-12T>G) c.62-12T>G (n.62-12T>G) | |
| 6 | g.122780279T= | CA1660115233 | FABP7 | c.74-12T= (n.74-12T=) c.62-12T= (n.62-12T=) | |
| 6 | g.122780280T>C | CA3982882 | FABP7 | c.74-11T>C (n.74-11T>C) c.62-11T>C (n.62-11T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.122780280T= | CA1660115234 | FABP7 | c.74-11T= (n.74-11T=) c.62-11T= (n.62-11T=) | |
| 6 | g.122780281G>C | CA570510045 | FABP7 | c.74-10G>C (n.74-10G>C) c.62-10G>C (n.62-10G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.122780281G= | CA1660115235 | FABP7 | c.74-10G= (n.74-10G=) c.62-10G= (n.62-10G=) | |
| 6 | g.122780282C= | CA1660115236 | FABP7 | c.74-9C= (n.74-9C=) c.62-9C= (n.62-9C=) | |
| 6 | g.122780282C>G | CA1660115237 | FABP7 | c.74-9C>G (n.74-9C>G) c.62-9C>G (n.62-9C>G) | dbSNP |
| 6 | g.122780282C>T | CA2772886463 | FABP7 | c.74-9C>T (n.74-9C>T) c.62-9C>T (n.62-9C>T) | |
| 6 | g.122780284A>G | CA2680210782 | FABP7 | c.74-7A>G (n.74-7A>G) c.62-7A>G (n.62-7A>G) | gnomAD v4 |
| 6 | g.122780285T>C | CA2566972665 | FABP7 | c.74-6T>C (n.74-6T>C) c.62-6T>C (n.62-6T>C) | |
| 6 | g.122780287T>C | CA3982883 | FABP7 | c.74-4T>C (n.74-4T>C) c.62-4T>C (n.62-4T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.122780287T= | CA1660115238 | FABP7 | c.74-4T= (n.74-4T=) c.62-4T= (n.62-4T=) | |
| 6 | g.122780289A= | CA1660115239 | FABP7 | c.74-2A= (n.74-2A=) c.62-2A= (n.62-2A=) | |
| 6 | g.122780289A>C | CA365488672 | FABP7 | c.74-2A>C (n.74-2A>C) c.62-2A>C (n.62-2A>C) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.122780289A>G | CA365488673 | FABP7 | c.74-2A>G (n.74-2A>G) c.62-2A>G (n.62-2A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.122780289A>T | CA365488675 | FABP7 | c.74-2A>T (n.74-2A>T) c.62-2A>T (n.62-2A>T) | gnomAD v4 |
| 6 | g.122780290G>A | CA365488681 | FABP7 | c.74-1G>A (n.74-1G>A) c.62-1G>A (n.62-1G>A) | gnomAD v4 |
| 6 | g.122780290G>C | CA365488678 | FABP7 | c.74-1G>C (n.74-1G>C) c.62-1G>C (n.62-1G>C) | |
| 6 | g.122780290G>T | CA365488679 | FABP7 | c.74-1G>T (n.74-1G>T) c.62-1G>T (n.62-1G>T) | |
| 6 | g.122780291G>A | CA3982884 | FABP7 | c.74G>A (p.Gly25Asp) c.62G>A (p.Gly21Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.122780291G>C | CA365488684 | FABP7 | c.74G>C (p.Gly25Ala) c.62G>C (p.Gly21Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.122780291G= | CA1660115240 | FABP7 | c.74G= (p.Gly25=) c.62G= (p.Gly21=) | |
| 6 | g.122780291G>T | CA365488686 | FABP7 | c.74G>T (p.Gly25Val) c.62G>T (p.Gly21Val) | |
| 6 | g.122780292C>A | CA3982885 | FABP7 | c.75C>A (p.Gly25=) c.63C>A (p.Gly21=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 6 | g.122780292C= | CA1660115241 | FABP7 | c.75C= (p.Gly25=) c.63C= (p.Gly21=) | |
| 6 | g.122780292C>G | CA451977535 | FABP7 | c.75C>G (p.Gly25=) c.63C>G (p.Gly21=) | |
| 6 | g.122780292C>T | CA3982886 | FABP7 | c.75C>T (p.Gly25=) c.63C>T (p.Gly21=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.122780293G>A | CA3982887 | FABP7 | c.76G>A (p.Val26Met) c.64G>A (p.Val22Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.122780293G>C | CA365488690 | FABP7 | c.76G>C (p.Val26Leu) c.64G>C (p.Val22Leu) | |
| 6 | g.122780293G= | CA1660115242 | FABP7 | c.76G= (p.Val26=) c.64G= (p.Val22=) | |
| 6 | g.122780293G>T | CA365488691 | FABP7 | c.76G>T (p.Val26Leu) c.64G>T (p.Val22Leu) | |
| 6 | g.122780294T>A | CA365488693 | FABP7 | c.77T>A (p.Val26Glu) c.65T>A (p.Val22Glu) | |
| 6 | g.122780294T>C | CA365488694 | FABP7 | c.77T>C (p.Val26Ala) c.65T>C (p.Val22Ala) | |
| 6 | g.122780294T>G | CA365488696 | FABP7 | c.77T>G (p.Val26Gly) c.65T>G (p.Val22Gly) | dbSNP |
| 6 | g.122780294T= | CA1660115243 | FABP7 | c.77T= (p.Val26=) c.65T= (p.Val22=) | |
| 6 | g.122780295G>A | CA451977536 | FABP7 | c.78G>A (p.Val26=) c.66G>A (p.Val22=) | |
| 6 | g.122780295G>C | CA451977537 | FABP7 | c.78G>C (p.Val26=) c.66G>C (p.Val22=) | |
| 6 | g.122780295G>T | CA451977538 | FABP7 | c.78G>T (p.Val26=) c.66G>T (p.Val22=) | |
| 6 | g.122780296G>A | CA365488702 | FABP7 | c.79G>A (p.Gly27Ser) c.67G>A (p.Gly23Ser) | gnomAD v4 |
| 6 | g.122780296G>C | CA365488700 | FABP7 | c.79G>C (p.Gly27Arg) c.67G>C (p.Gly23Arg) | |
| 6 | g.122780296G>T | CA365488698 | FABP7 | c.79G>T (p.Gly27Cys) c.67G>T (p.Gly23Cys) | |
| 6 | g.122780297G>A | CA365488704 | FABP7 | c.80G>A (p.Gly27Asp) c.68G>A (p.Gly23Asp) | |
| 6 | g.122780297G>C | CA365488706 | FABP7 | c.80G>C (p.Gly27Ala) c.68G>C (p.Gly23Ala) | |
| 6 | g.122780297G>T | CA365488707 | FABP7 | c.80G>T (p.Gly27Val) c.68G>T (p.Gly23Val) | |
| 6 | g.122780298C>A | CA451977541 | FABP7 | c.81C>A (p.Gly27=) c.69C>A (p.Gly23=) | |
| 6 | g.122780298C= | CA1660115244 | FABP7 | c.81C= (p.Gly27=) c.69C= (p.Gly23=) | |
| 6 | g.122780298C>G | CA451977540 | FABP7 | c.81C>G (p.Gly27=) c.69C>G (p.Gly23=) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.122780298C>T | CA451977539 | FABP7 | c.81C>T (p.Gly27=) c.69C>T (p.Gly23=) | |
| 6 | g.122780299T>A | CA365488710 | FABP7 | c.82T>A (p.Phe28Ile) c.70T>A (p.Phe24Ile) | |
| 6 | g.122780299T>C | CA365488711 | FABP7 | c.82T>C (p.Phe28Leu) c.70T>C (p.Phe24Leu) | |
| 6 | g.122780299T>G | CA3982888 | FABP7 | c.82T>G (p.Phe28Val) c.70T>G (p.Phe24Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.122780299T= | CA1660115245 | FABP7 | c.82T= (p.Phe28=) c.70T= (p.Phe24=) | |
| 6 | g.122780300T>A | CA365488717 | FABP7 | c.83T>A (p.Phe28Tyr) c.71T>A (p.Phe24Tyr) | |
| 6 | g.122780300T>C | CA365488715 | FABP7 | c.83T>C (p.Phe28Ser) c.71T>C (p.Phe24Ser) | gnomAD v4 |
| 6 | g.122780300T>G | CA365488716 | FABP7 | c.83T>G (p.Phe28Cys) c.71T>G (p.Phe24Cys) | |
| 6 | g.122780301T>A | CA365488720 | FABP7 | c.84T>A (p.Phe28Leu) c.72T>A (p.Phe24Leu) | |
| 6 | g.122780301T>C | CA451977542 | FABP7 | c.84T>C (p.Phe28=) c.72T>C (p.Phe24=) | |
| 6 | g.122780301T>G | CA365488721 | FABP7 | c.84T>G (p.Phe28Leu) c.72T>G (p.Phe24Leu) | |
| 6 | g.122780302G>A | CA365488724 | FABP7 | c.85G>A (p.Ala29Thr) c.73G>A (p.Ala25Thr) | gnomAD v4 |
| 6 | g.122780302G>C | CA147076830 | FABP7 | c.85G>C (p.Ala29Pro) c.73G>C (p.Ala25Pro) | dbSNP |
| 6 | g.122780302G= | CA1660115246 | FABP7 | c.85G= (p.Ala29=) c.73G= (p.Ala25=) | |
| 6 | g.122780302G>T | CA365488725 | FABP7 | c.85G>T (p.Ala29Ser) c.73G>T (p.Ala25Ser) | |
| 6 | g.122780303C>A | CA365488728 | FABP7 | c.86C>A (p.Ala29Asp) c.74C>A (p.Ala25Asp) | |
| 6 | g.122780303C>G | CA365488731 | FABP7 | c.86C>G (p.Ala29Gly) c.74C>G (p.Ala25Gly) | |
| 6 | g.122780303C>T | CA365488729 | FABP7 | c.86C>T (p.Ala29Val) c.74C>T (p.Ala25Val) | |
| 6 | g.122780304C>A | CA451977543 | FABP7 | c.87C>A (p.Ala29=) c.75C>A (p.Ala25=) | |
| 6 | g.122780304C>G | CA451977544 | FABP7 | c.87C>G (p.Ala29=) c.75C>G (p.Ala25=) | |
| 6 | g.122780304C>T | CA451977545 | FABP7 | c.87C>T (p.Ala29=) c.75C>T (p.Ala25=) | |
| 6 | g.122780305A= | CA1660115247 | FABP7 | c.88A= (p.Thr30=) c.76A= (p.Thr26=) | |
| 6 | g.122780305A>C | CA365488734 | FABP7 | c.88A>C (p.Thr30Pro) c.76A>C (p.Thr26Pro) | |
| 6 | g.122780305A>G | CA365488735 | FABP7 | c.88A>G (p.Thr30Ala) c.76A>G (p.Thr26Ala) | |
| 6 | g.122780305A>T | CA365488737 | FABP7 | c.88A>T (p.Thr30Ser) c.76A>T (p.Thr26Ser) | dbSNP |
| 6 | g.122780306C>A | CA365488738 | FABP7 | c.89C>A (p.Thr30Asn) c.77C>A (p.Thr26Asn) | |
| 6 | g.122780306C>G | CA365488739 | FABP7 | c.89C>G (p.Thr30Ser) c.77C>G (p.Thr26Ser) | |
| 6 | g.122780306C>T | CA365488741 | FABP7 | c.89C>T (p.Thr30Ile) c.77C>T (p.Thr26Ile) | |
| 6 | g.122780307T>A | CA451977546 | FABP7 | c.90T>A (p.Thr30=) c.78T>A (p.Thr26=) | |
| 6 | g.122780307T>C | CA451977547 | FABP7 | c.90T>C (p.Thr30=) c.78T>C (p.Thr26=) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.122780307T>G | CA451977548 | FABP7 | c.90T>G (p.Thr30=) c.78T>G (p.Thr26=) | gnomAD v4 |
| 6 | g.122780307T= | CA1660115248 | FABP7 | c.90T= (p.Thr30=) c.78T= (p.Thr26=) | |
| 6 | g.122780308A= | CA1660115249 | FABP7 | c.91A= (p.Arg31=) c.79A= (p.Arg27=) | |
| 6 | g.122780308A>C | CA451977549 | FABP7 | c.91A>C (p.Arg31=) c.79A>C (p.Arg27=) | |
| 6 | g.122780308A>G | CA365488744 | FABP7 | c.91A>G (p.Arg31Gly) c.79A>G (p.Arg27Gly) | |
| 6 | g.122780308A>T | CA365488745 | FABP7 | c.91A>T (p.Arg31Trp) c.79A>T (p.Arg27Trp) | |
| 6 | g.122780309G>A | CA365488748 | FABP7 | c.92G>A (p.Arg31Lys) c.80G>A (p.Arg27Lys) | gnomAD v4 |
| 6 | g.122780309G>C | CA365488750 | FABP7 | c.92G>C (p.Arg31Thr) c.80G>C (p.Arg27Thr) | |
| 6 | g.122780309G>T | CA365488751 | FABP7 | c.92G>T (p.Arg31Met) c.80G>T (p.Arg27Met) | |
| 6 | g.122780310dup | CA818250088 | FABP7 | c.93dup (p.Gln32AlafsTer?) c.81dup (p.Gln28AlafsTer?) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.122780310G>A | CA451977550 | FABP7 | c.93G>A (p.Arg31=) c.81G>A (p.Arg27=) | COSMIC COSMIC |
| 6 | g.122780310G>C | CA365488755 | FABP7 | c.93G>C (p.Arg31Ser) c.81G>C (p.Arg27Ser) | |
| 6 | g.122780310G>T | CA365488753 | FABP7 | c.93G>T (p.Arg31Ser) c.81G>T (p.Arg27Ser) | |
| 6 | g.122780311C>A | CA365488757 | FABP7 | c.94C>A (p.Gln32Lys) c.82C>A (p.Gln28Lys) | |
| 6 | g.122780311C= | CA1660115250 | FABP7 | c.94C= (p.Gln32=) c.82C= (p.Gln28=) | |
| 6 | g.122780311C>G | CA365488760 | FABP7 | c.94C>G (p.Gln32Glu) c.82C>G (p.Gln28Glu) | |
| 6 | g.122780311C>T | CA365488759 | FABP7 | c.94C>T (p.Gln32Ter) c.82C>T (p.Gln28Ter) | |
| 6 | g.122780312A= | CA1660115251 | FABP7 | c.95A= (p.Gln32=) c.83A= (p.Gln28=) | |
| 6 | g.122780312A>C | CA365488765 | FABP7 | c.95A>C (p.Gln32Pro) c.83A>C (p.Gln28Pro) | |
| 6 | g.122780312A>G | CA147076839 | FABP7 | c.95A>G (p.Gln32Arg) c.83A>G (p.Gln28Arg) | dbSNP |
| 6 | g.122780312A>T | CA365488764 | FABP7 | c.95A>T (p.Gln32Leu) c.83A>T (p.Gln28Leu) | |
| 6 | g.122780312dup | CA3982889 | FABP7 | c.95dup (p.Val33GlyfsTer?) c.83dup (p.Val29GlyfsTer?) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.122780313G>A | CA451977551 | FABP7 | c.96G>A (p.Gln32=) c.84G>A (p.Gln28=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.122780313G>C | CA365488767 | FABP7 | c.96G>C (p.Gln32His) c.84G>C (p.Gln28His) | |
| 6 | g.122780313G= | CA1660115252 | FABP7 | c.96G= (p.Gln32=) c.84G= (p.Gln28=) | |
| 6 | g.122780313G>T | CA365488769 | FABP7 | c.96G>T (p.Gln32His) c.84G>T (p.Gln28His) | |
| 6 | g.122780314del | CA2680210783 | FABP7 | c.97del (p.Val33TrpfsTer4) c.85del (p.Val29TrpfsTer4) | gnomAD v4 |
| 6 | g.122780314G>A | CA365488771 | FABP7 | c.97G>A (p.Val33Met) c.85G>A (p.Val29Met) | |
| 6 | g.122780314G>C | CA365488772 | FABP7 | c.97G>C (p.Val33Leu) c.85G>C (p.Val29Leu) | |
| 6 | g.122780314G>T | CA365488774 | FABP7 | c.97G>T (p.Val33Leu) c.85G>T (p.Val29Leu) | gnomAD v4 |
| 6 | g.122780315T>A | CA365488780 | FABP7 | c.98T>A (p.Val33Glu) c.86T>A (p.Val29Glu) | |
| 6 | g.122780315T>C | CA365488778 | FABP7 | c.98T>C (p.Val33Ala) c.86T>C (p.Val29Ala) | |
| 6 | g.122780315T>G | CA365488776 | FABP7 | c.98T>G (p.Val33Gly) c.86T>G (p.Val29Gly) | |
| 6 | g.122780316G>A | CA451977552 | FABP7 | c.99G>A (p.Val33=) c.87G>A (p.Val29=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.122780316G>C | CA451977553 | FABP7 | c.99G>C (p.Val33=) c.87G>C (p.Val29=) | |
| 6 | g.122780316G= | CA1660115253 | FABP7 | c.99G= (p.Val33=) c.87G= (p.Val29=) | |
| 6 | g.122780316G>T | CA451977554 | FABP7 | c.99G>T (p.Val33=) c.87G>T (p.Val29=) |