Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.78124794C>TCA2694156275PGK1c.937-80C>T (n.937-80C>T)
c.853-80C>T (n.853-80C>T)
 gnomAD v4
Xg.78124795T>CCA2694156276PGK1c.937-79T>C (n.937-79T>C)
c.853-79T>C (n.853-79T>C)
 gnomAD v4
Xg.78124795T>GCA2579650874PGK1c.937-79T>G (n.937-79T>G)
c.853-79T>G (n.853-79T>G)
 gnomAD v4
Xg.78124796G>TCA2694156277PGK1c.937-78G>T (n.937-78G>T)
c.853-78G>T (n.853-78G>T)
 gnomAD v4
Xg.78124797A>TCA657970152PGK1c.937-77A>T (n.937-77A>T)
c.853-77A>T (n.853-77A>T)
 COSMIC COSMIC
Xg.78124798G>ACA2568319224PGK1c.937-76G>A (n.937-76G>A)
c.853-76G>A (n.853-76G>A)
 gnomAD v4
Xg.78124801C>ACA2579650875PGK1c.937-73C>A (n.937-73C>A)
c.853-73C>A (n.853-73C>A)
 gnomAD v4
Xg.78124801C>TCA2579650876PGK1c.937-73C>T (n.937-73C>T)
c.853-73C>T (n.853-73C>T)
 gnomAD v4
Xg.78124803G>TCA2579650877PGK1c.937-71G>T (n.937-71G>T)
c.853-71G>T (n.853-71G>T)
 gnomAD v4
Xg.78124804delCA2694156278PGK1c.937-70del (n.937-70del)
c.853-70del (n.853-70del)
 gnomAD v4
Xg.78124804G>ACA2694156279PGK1c.937-70G>A (n.937-70G>A)
c.853-70G>A (n.853-70G>A)
 gnomAD v4
Xg.78124804G>CCA2439141048PGK1c.937-70G>C (n.937-70G>C)
c.853-70G>C (n.853-70G>C)
 dbSNP
Xg.78124804G=CA2439141047PGK1c.937-70G= (n.937-70G=)
c.853-70G= (n.853-70G=)
Xg.78124805T>GCA2519637316PGK1c.937-69T>G (n.937-69T>G)
c.853-69T>G (n.853-69T>G)
 gnomAD v4
Xg.78124806C>ACA2694156280PGK1c.937-68C>A (n.937-68C>A)
c.853-68C>A (n.853-68C>A)
 gnomAD v4
Xg.78124807T>CCA2694156281PGK1c.937-67T>C (n.937-67T>C)
c.853-67T>C (n.853-67T>C)
 gnomAD v4
Xg.78124807_78124810delinsTTGGCA2439141049PGK1c.937-67_937-64delinsTTGG (n.937-67_937-64delinsTTGG)
c.853-67_853-64delinsTTGG (n.853-67_853-64delinsTTGG)
Xg.78124811_78124813delCA2439141050PGK1c.937-63_937-61del (n.937-63_937-61del)
c.853-63_853-61del (n.853-63_853-61del)
 dbSNP
Xg.78124809G>TCA2579650878PGK1c.937-65G>T (n.937-65G>T)
c.853-65G>T (n.853-65G>T)
 gnomAD v4
Xg.78124810G>CCA331586244PGK1c.937-64G>C (n.937-64G>C)
c.853-64G>C (n.853-64G>C)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.78124810G=CA2439141051PGK1c.937-64G= (n.937-64G=)
c.853-64G= (n.853-64G=)
Xg.78124810G>TCA2579650879PGK1c.937-64G>T (n.937-64G>T)
c.853-64G>T (n.853-64G>T)
 gnomAD v4
Xg.78124811T>GCA2694156282PGK1c.937-63T>G (n.937-63T>G)
c.853-63T>G (n.853-63T>G)
 gnomAD v4
Xg.78124813delCA2694156283PGK1c.937-61del (n.937-61del)
c.853-61del (n.853-61del)
 gnomAD v4
Xg.78124813G>TCA2694156284PGK1c.937-61G>T (n.937-61G>T)
c.853-61G>T (n.853-61G>T)
 gnomAD v4
Xg.78124814A>GCA2694156285PGK1c.937-60A>G (n.937-60A>G)
c.853-60A>G (n.853-60A>G)
 gnomAD v4
Xg.78124814A>TCA2694156286PGK1c.937-60A>T (n.937-60A>T)
c.853-60A>T (n.853-60A>T)
 gnomAD v4
Xg.78124815G>ACA642709033PGK1c.937-59G>A (n.937-59G>A)
c.853-59G>A (n.853-59G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.78124815G=CA2439141052PGK1c.937-59G= (n.937-59G=)
c.853-59G= (n.853-59G=)
Xg.78124816G=CA2439141053PGK1c.937-58G= (n.937-58G=)
c.853-58G= (n.853-58G=)
Xg.78124817T>CCA2694156287PGK1c.937-57T>C (n.937-57T>C)
c.853-57T>C (n.853-57T>C)
 gnomAD v4
Xg.78124817_78124818insATCA2439141054PGK1c.937-57_937-56insAT (n.937-57_937-56insAT)
c.853-57_853-56insAT (n.853-57_853-56insAT)
 dbSNP
Xg.78124818G>ACA2514390327PGK1c.937-56G>A (n.937-56G>A)
c.853-56G>A (n.853-56G>A)
Xg.78124818G>CCA1134523362PGK1c.937-56G>C (n.937-56G>C)
c.853-56G>C (n.853-56G>C)
 dbSNP gnomAD v3 gnomAD v4
Xg.78124818G=CA2439141055PGK1c.937-56G= (n.937-56G=)
c.853-56G= (n.853-56G=)
Xg.78124819G>ACA2694156288PGK1c.937-55G>A (n.937-55G>A)
c.853-55G>A (n.853-55G>A)
 gnomAD v4
Xg.78124821G>ACA331586245PGK1c.937-53G>A (n.937-53G>A)
c.853-53G>A (n.853-53G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.78124821G=CA2439141056PGK1c.937-53G= (n.937-53G=)
c.853-53G= (n.853-53G=)
Xg.78124821dupCA2694156289PGK1c.937-53dup (n.937-53dup)
c.853-53dup (n.853-53dup)
 gnomAD v4
Xg.78124822T>GCA878428615PGK1c.937-52T>G (n.937-52T>G)
c.853-52T>G (n.853-52T>G)
 dbSNP gnomAD v4
Xg.78124822T=CA2439141057PGK1c.937-52T= (n.937-52T=)
c.853-52T= (n.853-52T=)
Xg.78124824dupCA2579650880PGK1c.937-50dup (n.937-50dup)
c.853-50dup (n.853-50dup)
Xg.78124824delCA2579650881PGK1c.937-50del (n.937-50del)
c.853-50del (n.853-50del)
Xg.78124823T>CCA10459795PGK1c.937-51T>C (n.937-51T>C)
c.853-51T>C (n.853-51T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.78124823T=CA2439141058PGK1c.937-51T= (n.937-51T=)
c.853-51T= (n.853-51T=)
Xg.78124824T>GCA10459796PGK1c.937-50T>G (n.937-50T>G)
c.853-50T>G (n.853-50T>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.78124824T=CA2439141059PGK1c.937-50T= (n.937-50T=)
c.853-50T= (n.853-50T=)
Xg.78124825A>GCA2694156290PGK1c.937-49A>G (n.937-49A>G)
c.853-49A>G (n.853-49A>G)
 gnomAD v4
Xg.78124825A>TCA2694156291PGK1c.937-49A>T (n.937-49A>T)
c.853-49A>T (n.853-49A>T)
 gnomAD v4
Xg.78124826A>CCA2741766186PGK1c.937-48A>C (n.937-48A>C)
c.853-48A>C (n.853-48A>C)
Xg.78124827G>ACA2694156292PGK1c.937-47G>A (n.937-47G>A)
c.853-47G>A (n.853-47G>A)
 gnomAD v4
Xg.78124827G>CCA2741766187PGK1c.937-47G>C (n.937-47G>C)
c.853-47G>C (n.853-47G>C)
Xg.78124830G>CCA2694156293PGK1c.937-44G>C (n.937-44G>C)
c.853-44G>C (n.853-44G>C)
 gnomAD v4
Xg.78124830G>TCA2579650882PGK1c.937-44G>T (n.937-44G>T)
c.853-44G>T (n.853-44G>T)
 gnomAD v4
Xg.78124831C>ACA2579650883PGK1c.937-43C>A (n.937-43C>A)
c.853-43C>A (n.853-43C>A)
 gnomAD v4
Xg.78124832T>CCA2694156294PGK1c.937-42T>C (n.937-42T>C)
c.853-42T>C (n.853-42T>C)
 gnomAD v4
Xg.78124832T>GCA2694156295PGK1c.937-42T>G (n.937-42T>G)
c.853-42T>G (n.853-42T>G)
 gnomAD v4
Xg.78124833T>CCA2694156296PGK1c.937-41T>C (n.937-41T>C)
c.853-41T>C (n.853-41T>C)
 gnomAD v4
Xg.78124835T>CCA10459797PGK1c.937-39T>C (n.937-39T>C)
c.853-39T>C (n.853-39T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.78124835T=CA2439141060PGK1c.937-39T= (n.937-39T=)
c.853-39T= (n.853-39T=)
Xg.78124836C>ACA2694156297PGK1c.937-38C>A (n.937-38C>A)
c.853-38C>A (n.853-38C>A)
 gnomAD v4
Xg.78124836C>TCA2694156298PGK1c.937-38C>T (n.937-38C>T)
c.853-38C>T (n.853-38C>T)
 gnomAD v4
Xg.78124837T>CCA2694156299PGK1c.937-37T>C (n.937-37T>C)
c.853-37T>C (n.853-37T>C)
 gnomAD v4
Xg.78124838T>CCA2694156301PGK1c.937-36T>C (n.937-36T>C)
c.853-36T>C (n.853-36T>C)
 gnomAD v4
Xg.78124839G>ACA2694156302PGK1c.937-35G>A (n.937-35G>A)
c.853-35G>A (n.853-35G>A)
 gnomAD v4
Xg.78124839G>CCA2439141062PGK1c.937-35G>C (n.937-35G>C)
c.853-35G>C (n.853-35G>C)
 dbSNP
Xg.78124839G=CA2439141061PGK1c.937-35G= (n.937-35G=)
c.853-35G= (n.853-35G=)
Xg.78124839G>TCA2694156303PGK1c.937-35G>T (n.937-35G>T)
c.853-35G>T (n.853-35G>T)
 gnomAD v4
Xg.78124840A>GCA2519220359PGK1c.937-34A>G (n.937-34A>G)
c.853-34A>G (n.853-34A>G)
 gnomAD v4
Xg.78124842A>GCA2694156304PGK1c.937-32A>G (n.937-32A>G)
c.853-32A>G (n.853-32A>G)
 gnomAD v4
Xg.78124843G>ACA2566157238PGK1c.937-31G>A (n.937-31G>A)
c.853-31G>A (n.853-31G>A)
 gnomAD v4
Xg.78124844C>ACA2694156305PGK1c.937-30C>A (n.937-30C>A)
c.853-30C>A (n.853-30C>A)
 gnomAD v4
Xg.78124844C>TCA2579650884PGK1c.937-30C>T (n.937-30C>T)
c.853-30C>T (n.853-30C>T)
 gnomAD v4
Xg.78124845T>CCA10459798PGK1c.937-29T>C (n.937-29T>C)
c.853-29T>C (n.853-29T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.78124845T=CA2439141063PGK1c.937-29T= (n.937-29T=)
c.853-29T= (n.853-29T=)
Xg.78124846C>ACA2694156306PGK1c.937-28C>A (n.937-28C>A)
c.853-28C>A (n.853-28C>A)
 gnomAD v4
Xg.78124846C=CA2439141064PGK1c.937-28C= (n.937-28C=)
c.853-28C= (n.853-28C=)
Xg.78124846C>GCA2694156307PGK1c.937-28C>G (n.937-28C>G)
c.853-28C>G (n.853-28C>G)
 gnomAD v4
Xg.78124846C>TCA331586246PGK1c.937-28C>T (n.937-28C>T)
c.853-28C>T (n.853-28C>T)
 dbSNP gnomAD v2 gnomAD v4
Xg.78124849delCA2694156308PGK1c.937-25del (n.937-25del)
c.853-25del (n.853-25del)
 gnomAD v4
Xg.78124849C>ACA2694156309PGK1c.937-25C>A (n.937-25C>A)
c.853-25C>A (n.853-25C>A)
 gnomAD v4
Xg.78124849C=CA2439141065PGK1c.937-25C= (n.937-25C=)
c.853-25C= (n.853-25C=)
Xg.78124849C>GCA2694156310PGK1c.937-25C>G (n.937-25C>G)
c.853-25C>G (n.853-25C>G)
 gnomAD v4
Xg.78124849C>TCA878428626PGK1c.937-25C>T (n.937-25C>T)
c.853-25C>T (n.853-25C>T)
 dbSNP gnomAD v4
Xg.78124850T>ACA2579650885PGK1c.937-24T>A (n.937-24T>A)
c.853-24T>A (n.853-24T>A)
 gnomAD v4
Xg.78124850T>CCA2517184799PGK1c.937-24T>C (n.937-24T>C)
c.853-24T>C (n.853-24T>C)
 gnomAD v4
Xg.78124851T>ACA10459799PGK1c.937-23T>A (n.937-23T>A)
c.853-23T>A (n.853-23T>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.78124851T>GCA2694156311PGK1c.937-23T>G (n.937-23T>G)
c.853-23T>G (n.853-23T>G)
 gnomAD v4
Xg.78124851T=CA2439141066PGK1c.937-23T= (n.937-23T=)
c.853-23T= (n.853-23T=)
Xg.78124852C>ACA2694156313PGK1c.937-22C>A (n.937-22C>A)
c.853-22C>A (n.853-22C>A)
 gnomAD v4
Xg.78124852C>TCA2694156312PGK1c.937-22C>T (n.937-22C>T)
c.853-22C>T (n.853-22C>T)
 gnomAD v4
Xg.78124854C>ACA10459801PGK1c.937-20C>A (n.937-20C>A)
c.853-20C>A (n.853-20C>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.78124854C=CA2439141067PGK1c.937-20C= (n.937-20C=)
c.853-20C= (n.853-20C=)
Xg.78124854C>GCA878428656PGK1c.937-20C>G (n.937-20C>G)
c.853-20C>G (n.853-20C>G)
 dbSNP gnomAD v4
Xg.78124854C>TCA878428640PGK1c.937-20C>T (n.937-20C>T)
c.853-20C>T (n.853-20C>T)
 dbSNP
Xg.78124855T>ACA2565648522PGK1c.937-19T>A (n.937-19T>A)
c.853-19T>A (n.853-19T>A)
Xg.78124857dupCA10459800PGK1c.937-17dup (n.937-17dup)
c.853-17dup (n.853-17dup)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.78124857delCA2694156314PGK1c.937-17del (n.937-17del)
c.853-17del (n.853-17del)
 gnomAD v4
Xg.78124856T>GCA2694156315PGK1c.937-18T>G (n.937-18T>G)
c.853-18T>G (n.853-18T>G)
 dbSNP gnomAD v4
Xg.78124856_78124858delinsTTCCA2439141068PGK1c.937-18_937-16delinsTTC (n.937-18_937-16delinsTTC)
c.853-18_853-16delinsTTC (n.853-18_853-16delinsTTC)
Xg.78124857_78124858delCA2439141069PGK1c.937-17_937-16del (n.937-17_937-16del)
c.853-17_853-16del (n.853-17_853-16del)
 dbSNP
Xg.78124858C>ACA2694156316PGK1c.937-16C>A (n.937-16C>A)
c.853-16C>A (n.853-16C>A)
 gnomAD v4
Xg.78124858C>TCA2537392590PGK1c.937-16C>T (n.937-16C>T)
c.853-16C>T (n.853-16C>T)
Xg.78124860C>ACA2548932905PGK1c.937-14C>A (n.937-14C>A)
c.853-14C>A (n.853-14C>A)
Xg.78124861C=CA2439141070PGK1c.937-13C= (n.937-13C=)
c.853-13C= (n.853-13C=)
Xg.78124861C>TCA10459802PGK1c.937-13C>T (n.937-13C>T)
c.853-13C>T (n.853-13C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.78124862T>ACA2694156317PGK1c.937-12T>A (n.937-12T>A)
c.853-12T>A (n.853-12T>A)
 gnomAD v4
Xg.78124862T>GCA2694156318PGK1c.937-12T>G (n.937-12T>G)
c.853-12T>G (n.853-12T>G)
 gnomAD v4
Xg.78124863C>ACA2570891651PGK1c.937-11C>A (n.937-11C>A)
c.853-11C>A (n.853-11C>A)
Xg.78124863C>GCA2694156319PGK1c.937-11C>G (n.937-11C>G)
c.853-11C>G (n.853-11C>G)
 gnomAD v4
Xg.78124865A=CA2439141071PGK1c.937-9A= (n.937-9A=)
c.853-9A= (n.853-9A=)
Xg.78124865A>GCA10459803PGK1c.937-9A>G (n.937-9A>G)
c.853-9A>G (n.853-9A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.78124866C>ACA2694156321PGK1c.937-8C>A (n.937-8C>A)
c.853-8C>A (n.853-8C>A)
 gnomAD v4
Xg.78124866C=CA2439141072PGK1c.937-8C= (n.937-8C=)
c.853-8C= (n.853-8C=)
Xg.78124866C>GCA2597116902PGK1c.937-8C>G (n.937-8C>G)
c.853-8C>G (n.853-8C>G)
 gnomAD v3 gnomAD v4
Xg.78124866C>TCA10459804PGK1c.937-8C>T (n.937-8C>T)
c.853-8C>T (n.853-8C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.78124869delCA2579650886PGK1c.937-5del (n.937-5del)
c.853-5del (n.853-5del)
Xg.78124867C=CA2439141073PGK1c.937-7C= (n.937-7C=)
c.853-7C= (n.853-7C=)
Xg.78124867C>TCA642709034PGK1c.937-7C>T (n.937-7C>T)
c.853-7C>T (n.853-7C>T)
 dbSNP gnomAD v2 gnomAD v4
Xg.78124868C=CA2439141074PGK1c.937-6C= (n.937-6C=)
c.853-6C= (n.853-6C=)
Xg.78124868C>TCA642709035PGK1c.937-6C>T (n.937-6C>T)
c.853-6C>T (n.853-6C>T)
 dbSNP gnomAD v2 gnomAD v4
Xg.78124869C>ACA2694156322PGK1c.937-5C>A (n.937-5C>A)
c.853-5C>A (n.853-5C>A)
 gnomAD v4
Xg.78124869C>TCA2579650887PGK1c.937-5C>T (n.937-5C>T)
c.853-5C>T (n.853-5C>T)
 gnomAD v4
Xg.78124871C>TCA2520880620PGK1c.937-3C>T (n.937-3C>T)
c.853-3C>T (n.853-3C>T)
Xg.78124872A>CCA413717181PGK1c.937-2A>C (n.937-2A>C)
c.853-2A>C (n.853-2A>C)
Xg.78124872A>GCA413717183PGK1c.937-2A>G (n.937-2A>G)
c.853-2A>G (n.853-2A>G)
Xg.78124872A>TCA413717185PGK1c.937-2A>T (n.937-2A>T)
c.853-2A>T (n.853-2A>T)
Xg.78124873G>ACA413717187PGK1c.937-1G>A (n.937-1G>A)
c.853-1G>A (n.853-1G>A)
Xg.78124873G>CCA413717188PGK1c.937-1G>C (n.937-1G>C)
c.853-1G>C (n.853-1G>C)
Xg.78124873G>TCA413717190PGK1c.937-1G>T (n.937-1G>T)
c.853-1G>T (n.853-1G>T)
 COSMIC
Xg.78124874G>ACA413717192PGK1c.937G>A (p.Gly313Ser)
c.853G>A (p.Gly285Ser)
 dbSNP
Xg.78124874G>CCA413717193PGK1c.937G>C (p.Gly313Arg)
c.853G>C (p.Gly285Arg)
Xg.78124874G=CA2439141075PGK1c.937G= (p.Gly313=)
c.853G= (p.Gly285=)
Xg.78124874G>TCA413717195PGK1c.937G>T (p.Gly313Cys)
c.853G>T (p.Gly285Cys)
Xg.78124875G>ACA413717197PGK1c.938G>A (p.Gly313Asp)
c.854G>A (p.Gly285Asp)
Xg.78124875G>CCA413717199PGK1c.938G>C (p.Gly313Ala)
c.854G>C (p.Gly285Ala)
Xg.78124875G>TCA413717201PGK1c.938G>T (p.Gly313Val)
c.854G>T (p.Gly285Val)
Xg.78124876C>ACA517381116PGK1c.939C>A (p.Gly313=)
c.855C>A (p.Gly285=)
 gnomAD v4
Xg.78124876C=CA2439141076PGK1c.939C= (p.Gly313=)
c.855C= (p.Gly285=)
Xg.78124876C>GCA517381119PGK1c.939C>G (p.Gly313=)
c.855C>G (p.Gly285=)
Xg.78124876C>TCA10459805PGK1c.939C>T (p.Gly313=)
c.855C>T (p.Gly285=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.78124877T>ACA413717205PGK1c.940T>A (p.Leu314Met)
c.856T>A (p.Leu286Met)
Xg.78124877T>CCA517381121PGK1c.940T>C (p.Leu314=)
c.856T>C (p.Leu286=)
 dbSNP
Xg.78124877T>GCA413717208PGK1c.940T>G (p.Leu314Val)
c.856T>G (p.Leu286Val)
Xg.78124877T=CA2439141077PGK1c.940T= (p.Leu314=)
c.856T= (p.Leu286=)
Xg.78124878T>ACA413717211PGK1c.941T>A (p.Leu314Ter)
c.857T>A (p.Leu286Ter)
Xg.78124878T>CCA413717213PGK1c.941T>C (p.Leu314Ser)
c.857T>C (p.Leu286Ser)
Xg.78124878T>GCA413717215PGK1c.941T>G (p.Leu314Trp)
c.857T>G (p.Leu286Trp)
Xg.78124879G>ACA517381130PGK1c.942G>A (p.Leu314=)
c.858G>A (p.Leu286=)
 ClinVar gnomAD v4
Xg.78124879G>CCA413717218PGK1c.942G>C (p.Leu314Phe)
c.858G>C (p.Leu286Phe)
Xg.78124879G>TCA413717219PGK1c.942G>T (p.Leu314Phe)
c.858G>T (p.Leu286Phe)
Xg.78124880G>ACA413717223PGK1c.943G>A (p.Asp315Asn)
c.859G>A (p.Asp287Asn)
 ClinVar dbSNP
Xg.78124880G>CCA413717224PGK1c.943G>C (p.Asp315His)
c.859G>C (p.Asp287His)
Xg.78124880G>TCA413717226PGK1c.943G>T (p.Asp315Tyr)
c.859G>T (p.Asp287Tyr)
Xg.78124881A=CA2439141078PGK1c.944A= (p.Asp315=)
c.860A= (p.Asp287=)
Xg.78124881A>CCA413717229PGK1c.944A>C (p.Asp315Ala)
c.860A>C (p.Asp287Ala)
Xg.78124881A>GCA413717230PGK1c.944A>G (p.Asp315Gly)
c.860A>G (p.Asp287Gly)
 dbSNP gnomAD v2 COSMIC
Xg.78124881A>TCA413717232PGK1c.944A>T (p.Asp315Val)
c.860A>T (p.Asp287Val)
Xg.78124882C>ACA413717234PGK1c.945C>A (p.Asp315Glu)
c.861C>A (p.Asp287Glu)
 gnomAD v4
Xg.78124882C>GCA413717235PGK1c.945C>G (p.Asp315Glu)
c.861C>G (p.Asp287Glu)
Xg.78124882C>TCA517381144PGK1c.945C>T (p.Asp315=)
c.861C>T (p.Asp287=)
Xg.78124883T>ACA413717241PGK1c.946T>A (p.Cys316Ser)
c.862T>A (p.Cys288Ser)
Xg.78124883T>CCA120826PGK1c.946T>C (p.Cys316Arg)
c.862T>C (p.Cys288Arg)
 ClinVar dbSNP
Xg.78124883T>GCA413717238PGK1c.946T>G (p.Cys316Gly)
c.862T>G (p.Cys288Gly)
Xg.78124883T=CA2439141079PGK1c.946T= (p.Cys316=)
c.862T= (p.Cys288=)
Xg.78124884G>ACA413717243PGK1c.947G>A (p.Cys316Tyr)
c.863G>A (p.Cys288Tyr)
 gnomAD v4
Xg.78124884G>CCA413717245PGK1c.947G>C (p.Cys316Ser)
c.863G>C (p.Cys288Ser)
Xg.78124884G>TCA413717247PGK1c.947G>T (p.Cys316Phe)
c.863G>T (p.Cys288Phe)
Xg.78124885T>ACA413717248PGK1c.948T>A (p.Cys316Ter)
c.864T>A (p.Cys288Ter)
Xg.78124885T>CCA517381156PGK1c.948T>C (p.Cys316=)
c.864T>C (p.Cys288=)
 gnomAD v4
Xg.78124885T>GCA413717249PGK1c.948T>G (p.Cys316Trp)
c.864T>G (p.Cys288Trp)
Xg.78124886G>ACA413717252PGK1c.949G>A (p.Gly317Ser)
c.865G>A (p.Gly289Ser)
Xg.78124886G>CCA413717254PGK1c.949G>C (p.Gly317Arg)
c.865G>C (p.Gly289Arg)
Xg.78124886G>TCA413717256PGK1c.949G>T (p.Gly317Cys)
c.865G>T (p.Gly289Cys)
Xg.78124887delCA2579650888PGK1c.950del (p.Gly317ValfsTer?)
c.866del (p.Gly289ValfsTer?)
 gnomAD v4
Xg.78124887G>ACA413717258PGK1c.950G>A (p.Gly317Asp)
c.866G>A (p.Gly289Asp)
 ClinVar
Xg.78124887G>CCA413717260PGK1c.950G>C (p.Gly317Ala)
c.866G>C (p.Gly289Ala)
Xg.78124887G>TCA413717262PGK1c.950G>T (p.Gly317Val)
c.866G>T (p.Gly289Val)
Xg.78124888T>ACA517381168PGK1c.951T>A (p.Gly317=)
c.867T>A (p.Gly289=)
Xg.78124888T>CCA517381165PGK1c.951T>C (p.Gly317=)
c.867T>C (p.Gly289=)
Xg.78124888T>GCA517381166PGK1c.951T>G (p.Gly317=)
c.867T>G (p.Gly289=)
Xg.78124889C>ACA413717265PGK1c.952C>A (p.Pro318Thr)
c.868C>A (p.Pro290Thr)
Xg.78124889C=CA2439141080PGK1c.952C= (p.Pro318=)
c.868C= (p.Pro290=)
Xg.78124889C>GCA413717266PGK1c.952C>G (p.Pro318Ala)
c.868C>G (p.Pro290Ala)
Xg.78124889C>TCA10459806PGK1c.952C>T (p.Pro318Ser)
c.868C>T (p.Pro290Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.78124890C>ACA413717272PGK1c.953C>A (p.Pro318His)
c.869C>A (p.Pro290His)
Xg.78124890C>GCA413717274PGK1c.953C>G (p.Pro318Arg)
c.869C>G (p.Pro290Arg)
Xg.78124890C>TCA413717270PGK1c.953C>T (p.Pro318Leu)
c.869C>T (p.Pro290Leu)
Xg.78124891T>ACA517381179PGK1c.954T>A (p.Pro318=)
c.870T>A (p.Pro290=)
Xg.78124891T>CCA517381180PGK1c.954T>C (p.Pro318=)
c.870T>C (p.Pro290=)
Xg.78124891T>GCA517381182PGK1c.954T>G (p.Pro318=)
c.870T>G (p.Pro290=)
Xg.78124892G>ACA413717276PGK1c.955G>A (p.Glu319Lys)
c.871G>A (p.Glu291Lys)
Xg.78124892G>CCA413717277PGK1c.955G>C (p.Glu319Gln)
c.871G>C (p.Glu291Gln)
Xg.78124892G>TCA413717279PGK1c.955G>T (p.Glu319Ter)
c.871G>T (p.Glu291Ter)
Xg.78124893A=CA2439141081PGK1c.956A= (p.Glu319=)
c.872A= (p.Glu291=)
Xg.78124893A>CCA413717281PGK1c.956A>C (p.Glu319Ala)
c.872A>C (p.Glu291Ala)
Xg.78124893A>GCA413717282PGK1c.956A>G (p.Glu319Gly)
c.872A>G (p.Glu291Gly)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.78124893A>TCA413717285PGK1c.956A>T (p.Glu319Val)
c.872A>T (p.Glu291Val)

Number of alleles fetched